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class="vector-toc-numb">2</span> <span>Causes</span> </div> </a> <button aria-controls="toc-Causes-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Causes subsection</span> </button> <ul id="toc-Causes-sublist" class="vector-toc-list"> <li id="toc-Genetics" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Genetics"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.1</span> <span>Genetics</span> </div> </a> <ul id="toc-Genetics-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Pathophysiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Pathophysiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Pathophysiology</span> </div> </a> <ul id="toc-Pathophysiology-sublist" class="vector-toc-list"> </ul> </li> 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href="#Stalling_of_disease"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.1</span> <span>Stalling of disease</span> </div> </a> <ul id="toc-Stalling_of_disease-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Bone_marrow_derived_stem_cells_(BMSC)" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Bone_marrow_derived_stem_cells_(BMSC)"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.2</span> <span>Bone marrow derived stem cells (BMSC)</span> </div> </a> <ul id="toc-Bone_marrow_derived_stem_cells_(BMSC)-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Argus_retinal_prosthesis" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Argus_retinal_prosthesis"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.3</span> <span>Argus retinal prosthesis</span> </div> </a> <ul id="toc-Argus_retinal_prosthesis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Gene_therapy" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Gene_therapy"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.4</span> <span>Gene therapy</span> </div> </a> <ul id="toc-Gene_therapy-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Drugs" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Drugs"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.5</span> <span>Drugs</span> </div> </a> <ul id="toc-Drugs-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Prognosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Prognosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Prognosis</span> </div> </a> <ul id="toc-Prognosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Epidemiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Epidemiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Epidemiology</span> </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Research" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Research"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>Research</span> </div> </a> <ul id="toc-Research-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Notable_cases" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Notable_cases"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>Notable cases</span> </div> </a> <ul id="toc-Notable_cases-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">11</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">12</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Retinitis pigmentosa</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another language. Available in 34 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-34" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">34 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%A7%D9%84%D8%AA%D9%87%D8%A7%D8%A8_%D8%A7%D9%84%D8%B4%D8%A8%D9%83%D9%8A%D8%A9_%D8%A7%D9%84%D8%B5%D8%A8%D8%A7%D8%BA%D9%8A" title="التهاب الشبكية الصباغي – Arabic" lang="ar" hreflang="ar" data-title="التهاب الشبكية الصباغي" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Bosnian" lang="bs" hreflang="bs" data-title="Retinitis pigmentosa" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Retinosi_pigment%C3%A0ria" title="Retinosi pigmentària – Catalan" lang="ca" hreflang="ca" data-title="Retinosi pigmentària" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Danish" lang="da" hreflang="da" data-title="Retinitis pigmentosa" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Retinopathia_pigmentosa" title="Retinopathia pigmentosa – German" lang="de" hreflang="de" data-title="Retinopathia pigmentosa" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-dv mw-list-item"><a href="https://dv.wikipedia.org/wiki/%DE%8D%DE%AE%DE%8D%DE%AA%DE%8E%DE%AC_%DE%87%DE%A6%DE%8D%DE%A8%DE%8B%DE%AA%DE%8D%DE%A9%DE%8E%DE%A6%DE%87%DE%A8_%DE%86%DE%A6%DE%85%DE%AA%DE%86%DE%AA%DE%8D%DE%A6%DE%87%DE%A8%DE%8E%DE%AC_%DE%8D%DE%A6%DE%87%DE%B0%DE%8C%DE%A6%DE%86%DE%AC%DE%87%DE%B0_%DE%87%DE%A6%DE%81%DE%A6%DE%8E%DE%A6%DE%8C%DE%AA%DE%82%DE%B0" title="ލޮލުގެ އަލިދުލީގައި ކަޅުކުލައިގެ ލައްތަކެއް އަށަގަތުން – Divehi" lang="dv" hreflang="dv" data-title="ލޮލުގެ އަލިދުލީގައި ކަޅުކުލައިގެ ލައްތަކެއް އަށަގަތުން" data-language-autonym="ދިވެހިބަސް" data-language-local-name="Divehi" class="interlanguage-link-target"><span>ދިވެހިބަސް</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Retinosis_pigmentaria" title="Retinosis pigmentaria – Spanish" lang="es" hreflang="es" data-title="Retinosis pigmentaria" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-eo mw-list-item"><a href="https://eo.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Esperanto" lang="eo" hreflang="eo" data-title="Retinitis pigmentosa" data-language-autonym="Esperanto" data-language-local-name="Esperanto" class="interlanguage-link-target"><span>Esperanto</span></a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/Erretinosi_pigmentario" title="Erretinosi pigmentario – Basque" lang="eu" hreflang="eu" data-title="Erretinosi pigmentario" data-language-autonym="Euskara" data-language-local-name="Basque" class="interlanguage-link-target"><span>Euskara</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%B1%D8%AA%DB%8C%D9%86%DB%8C%D8%AA_%D9%BE%DB%8C%DA%AF%D9%85%D9%86%D8%AA%D9%88%D8%B2%D8%A7" title="رتینیت پیگمنتوزا – Persian" lang="fa" hreflang="fa" data-title="رتینیت پیگمنتوزا" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/R%C3%A9tinite_pigmentaire" title="Rétinite pigmentaire – French" lang="fr" hreflang="fr" data-title="Rétinite pigmentaire" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EB%A7%9D%EB%A7%89%EC%83%89%EC%86%8C%EB%B3%80%EC%84%B1%EC%A6%9D" title="망막색소변성증 – Korean" lang="ko" hreflang="ko" data-title="망막색소변성증" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-hi mw-list-item"><a href="https://hi.wikipedia.org/wiki/%E0%A4%B0%E0%A5%87%E0%A4%9F%E0%A4%BF%E0%A4%A8%E0%A4%BE%E0%A4%87%E0%A4%9F%E0%A4%BF%E0%A4%B8_%E0%A4%AA%E0%A4%BF%E0%A4%97%E0%A4%AE%E0%A5%87%E0%A4%82%E0%A4%9F%E0%A5%8B%E0%A4%B8%E0%A4%BE" title="रेटिनाइटिस पिगमेंटोसा – Hindi" lang="hi" hreflang="hi" data-title="रेटिनाइटिस पिगमेंटोसा" data-language-autonym="हिन्दी" data-language-local-name="Hindi" class="interlanguage-link-target"><span>हिन्दी</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Croatian" lang="hr" hreflang="hr" data-title="Retinitis pigmentosa" data-language-autonym="Hrvatski" data-language-local-name="Croatian" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Retinite_pigmentosa" title="Retinite pigmentosa – Italian" lang="it" hreflang="it" data-title="Retinite pigmentosa" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he badge-Q17437796 badge-featuredarticle mw-list-item" title="featured article badge"><a href="https://he.wikipedia.org/wiki/%D7%A8%D7%98%D7%99%D7%A0%D7%99%D7%98%D7%99%D7%A1_%D7%A4%D7%99%D7%92%D7%9E%D7%A0%D7%98%D7%95%D7%96%D7%94" title="רטיניטיס פיגמנטוזה – Hebrew" lang="he" hreflang="he" data-title="רטיניטיס פיגמנטוזה" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-la mw-list-item"><a href="https://la.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Latin" lang="la" hreflang="la" data-title="Retinitis pigmentosa" data-language-autonym="Latina" data-language-local-name="Latin" class="interlanguage-link-target"><span>Latina</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Hungarian" lang="hu" hreflang="hu" data-title="Retinitis pigmentosa" data-language-autonym="Magyar" data-language-local-name="Hungarian" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Dutch" lang="nl" hreflang="nl" data-title="Retinitis pigmentosa" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E7%B6%B2%E8%86%9C%E8%89%B2%E7%B4%A0%E5%A4%89%E6%80%A7%E7%97%87" title="網膜色素変性症 – Japanese" lang="ja" hreflang="ja" data-title="網膜色素変性症" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Norwegian Bokmål" lang="nb" hreflang="nb" data-title="Retinitis pigmentosa" data-language-autonym="Norsk bokmål" data-language-local-name="Norwegian Bokmål" class="interlanguage-link-target"><span>Norsk bokmål</span></a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%B0%E0%AD%87%E0%AC%9F%E0%AC%BF%E0%AC%A8%E0%AC%BE%E0%AC%87%E0%AC%9F%E0%AC%BF%E0%AC%B8_%E0%AC%AA%E0%AC%BF%E0%AC%97%E0%AC%AE%E0%AD%87%E0%AC%A3%E0%AD%8D%E0%AC%9F%E0%AD%8B%E0%AC%B8%E0%AC%BE" title="ରେଟିନାଇଟିସ ପିଗମେଣ୍ଟୋସା – Odia" lang="or" hreflang="or" data-title="ରେଟିନାଇଟିସ ପିଗମେଣ୍ଟୋସା" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="Odia" class="interlanguage-link-target"><span>ଓଡ଼ିଆ</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Retinopatia_barwnikowa" title="Retinopatia barwnikowa – Polish" lang="pl" hreflang="pl" data-title="Retinopatia barwnikowa" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Retinite_pigmentosa" title="Retinite pigmentosa – Portuguese" lang="pt" hreflang="pt" data-title="Retinite pigmentosa" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%9F%D0%B8%D0%B3%D0%BC%D0%B5%D0%BD%D1%82%D0%BD%D1%8B%D0%B9_%D1%80%D0%B5%D1%82%D0%B8%D0%BD%D0%B8%D1%82" title="Пигментный ретинит – Russian" lang="ru" hreflang="ru" data-title="Пигментный ретинит" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sl mw-list-item"><a href="https://sl.wikipedia.org/wiki/Pigmentozni_retinitis" title="Pigmentozni retinitis – Slovenian" lang="sl" hreflang="sl" data-title="Pigmentozni retinitis" data-language-autonym="Slovenščina" data-language-local-name="Slovenian" class="interlanguage-link-target"><span>Slovenščina</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Serbian" lang="sr" hreflang="sr" data-title="Retinitis pigmentosa" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Verkkokalvorappeuma" title="Verkkokalvorappeuma – Finnish" lang="fi" hreflang="fi" data-title="Verkkokalvorappeuma" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa – Swedish" lang="sv" hreflang="sv" data-title="Retinitis pigmentosa" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tt mw-list-item"><a href="https://tt.wikipedia.org/wiki/%D0%9F%D0%B8%D0%B3%D0%BC%D0%B5%D0%BD%D1%82%D0%BB%D1%8B_%D1%80%D0%B5%D1%82%D0%B8%D0%BD%D0%B8%D1%82" title="Пигментлы ретинит – Tatar" lang="tt" hreflang="tt" data-title="Пигментлы ретинит" data-language-autonym="Татарча / tatarça" data-language-local-name="Tatar" class="interlanguage-link-target"><span>Татарча / tatarça</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B9%82%E0%B8%A3%E0%B8%84%E0%B8%88%E0%B8%AD%E0%B8%95%E0%B8%B2%E0%B8%A1%E0%B8%B5%E0%B8%AA%E0%B8%B2%E0%B8%A3%E0%B8%AA%E0%B8%B5" title="โรคจอตามีสารสี – Thai" lang="th" hreflang="th" data-title="โรคจอตามีสารสี" data-language-autonym="ไทย" data-language-local-name="Thai" class="interlanguage-link-target"><span>ไทย</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Gece_k%C3%B6rl%C3%BC%C4%9F%C3%BC" title="Gece 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id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Gradual retinal degeneration leading to progressive sight loss</div> <p class="mw-empty-elt"> </p> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Retinitis pigmentosa</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Inherited retinal dystrophy/diseases</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Fundus_of_patient_with_retinitis_pigmentosa,_mid_stage.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/49/Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg/220px-Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg" decoding="async" width="220" height="189" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/49/Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg/330px-Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/49/Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg/440px-Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg 2x" data-file-width="871" data-file-height="747" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data"><a href="/wiki/Fundus_(eye)" title="Fundus (eye)">Back of the eye</a> of a person with mid-stage retinitis pigmentosa. Note pigment deposits in the mid periphery along with <a href="/wiki/Retinal_atrophy" class="mw-redirect" title="Retinal atrophy">retinal atrophy</a>. While the <a href="/wiki/Macula" title="Macula">macula</a> is preserved there is some loss of pigmentation around it.</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Ophthalmology" title="Ophthalmology">Ophthalmology</a>, <a href="/wiki/Optometry" title="Optometry">Optometry</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data"><a href="/wiki/Nyctalopia" title="Nyctalopia">Trouble seeing at night</a>, decreased <a href="/wiki/Peripheral_vision" title="Peripheral vision">peripheral vision</a><sup id="cite_ref-NIH2014_1-0" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data">Childhood<sup id="cite_ref-NIH2014_1-1" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data"><a href="/wiki/Genetics" title="Genetics">Genetic</a><sup id="cite_ref-NIH2014_1-2" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data"><a href="/wiki/Eye_examination" title="Eye examination">Eye examination</a><sup id="cite_ref-NIH2014_1-3" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data"><a href="/wiki/Low_vision_aids" class="mw-redirect" title="Low vision aids">Low vision aids</a>, portable lighting, <a href="/wiki/Orientation_and_mobility" class="mw-redirect" title="Orientation and mobility">orientation and mobility</a> training<sup id="cite_ref-NIH2014_1-4" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medication" title="Medication">Medication</a></th><td class="infobox-data"><a href="/wiki/Disulfiram" title="Disulfiram">Disulfiram</a>, <a href="/wiki/Vitamin_A_palmitate" class="mw-redirect" title="Vitamin A palmitate">vitamin A palmitate</a><sup id="cite_ref-NIH2014_1-5" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">1 in 4,000 people<sup id="cite_ref-NIH2014_1-6" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr></tbody></table> <p><b>Retinitis pigmentosa</b> (<b>RP</b>) is a member of a group of <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorders</a> called inherited retinal dystrophy (IRD) that cause <a href="/wiki/Vision_impairment" class="mw-redirect" title="Vision impairment">loss of vision</a>.<sup id="cite_ref-NIH2014_1-7" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Symptoms include <a href="/wiki/Nyctalopia" title="Nyctalopia">trouble seeing at night</a> and decreasing <a href="/wiki/Peripheral_vision" title="Peripheral vision">peripheral vision</a> (side and upper or lower visual field).<sup id="cite_ref-NIH2014_1-8" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> As peripheral vision worsens, people may experience "<a href="/wiki/Tunnel_vision" title="Tunnel vision">tunnel vision</a>".<sup id="cite_ref-NIH2014_1-9" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Complete <a href="/wiki/Blindness" class="mw-redirect" title="Blindness">blindness</a> is uncommon.<sup id="cite_ref-Kel2008_2-0" class="reference"><a href="#cite_note-Kel2008-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Onset of symptoms is generally gradual and often begins in childhood.<sup id="cite_ref-NIH2014_1-10" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Kel2008_2-1" class="reference"><a href="#cite_note-Kel2008-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>Retinitis pigmentosa is generally inherited from one or both parents.<sup id="cite_ref-OMIM_3-0" class="reference"><a href="#cite_note-OMIM-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> It is caused by genetic variants in nearly 100 <a href="/wiki/Genes" class="mw-redirect" title="Genes">genes</a>.<sup id="cite_ref-OMIM_3-1" class="reference"><a href="#cite_note-OMIM-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> The underlying mechanism involves the progressive loss of rod <a href="/wiki/Photoreceptor_cell" title="Photoreceptor cell">photoreceptor cells</a> that line the <a href="/wiki/Retina" title="Retina">retina</a> of the eyeball.<sup id="cite_ref-NIH2014_1-11" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> The <a href="/wiki/Rod_cell" title="Rod cell">rod cells</a> secrete a <a href="/wiki/Neuroprotection" title="Neuroprotection">neuroprotective</a> substance (rod-derived cone viability factor, RdCVF) that protects the cone cells from <a href="/wiki/Apoptosis" title="Apoptosis">apoptosis</a>. When these rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells.<sup id="cite_ref-NIH2014_1-12" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Diagnosis is through <a href="/wiki/Eye_examination#Retinal_examination" title="Eye examination">eye examination of the retina</a> finding dark pigment deposits caused by the rupture of the underlying <a href="/wiki/Retinal_pigment_epithelium" title="Retinal pigment epithelium">retinal pigmented epithelial cells</a>, given that these cells contain <a href="/wiki/Melanin" title="Melanin">melanin</a>.<sup id="cite_ref-NIH2014_1-13" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Other supportive testing may include the <a href="/wiki/Electroretinography" title="Electroretinography">electroretinogram</a> (ERG), <a href="/wiki/Visual_field_test" title="Visual field test">visual field testing</a> (VFT), ocular coherence tomography (OCT) and <a href="/wiki/Genetic_testing" title="Genetic testing">DNA testing</a> to determine the gene responsible for a person's particular type of RP.<sup id="cite_ref-NIH2014_1-14" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p><p>There is currently no cure for retinitis pigmentosa.<sup id="cite_ref-Kel2008_2-2" class="reference"><a href="#cite_note-Kel2008-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Efforts to manage the problem may include the use of <a href="/wiki/Low_vision_aids" class="mw-redirect" title="Low vision aids">low vision aids</a>, portable lighting, or <a href="/wiki/Orientation_and_mobility" class="mw-redirect" title="Orientation and mobility">orientation and mobility</a> training.<sup id="cite_ref-NIH2014_1-15" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Vitamin_A_palmitate" class="mw-redirect" title="Vitamin A palmitate">Vitamin A palmitate</a> supplements may be useful to slow progression.<sup id="cite_ref-NIH2014_1-16" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> A <a href="/wiki/Visual_prosthesis" title="Visual prosthesis">visual prosthesis</a> may be an option for people with severe symptoms.<sup id="cite_ref-NIH2014_1-17" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p><p>There is only one FDA-approved <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> that is commercially available to RP patients with <a href="/wiki/Leber_congenital_amaurosis" title="Leber congenital amaurosis">Leber congenital amaurosis</a> type 2. It replaces the miscoded <a href="/wiki/RPE65" title="RPE65">RPE65</a> protein that is produced within the retinal pigmented epithelium. It has been found to be effective in approximately 50% of the patients who receive the therapy. The earlier a child receives the RPE65 therapy, the better their chances are for a positive outcome. There are many other therapies being researched at this time, with the goal of being approved in the next few years. </p><p>It is estimated to affect 1 in 4,000 people.<sup id="cite_ref-NIH2014_1-18" class="reference"><a href="#cite_note-NIH2014-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Tunnel_vision_sc.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/f/f9/Tunnel_vision_sc.png/290px-Tunnel_vision_sc.png" decoding="async" width="290" height="445" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/f9/Tunnel_vision_sc.png/435px-Tunnel_vision_sc.png 1.5x, //upload.wikimedia.org/wikipedia/commons/f/f9/Tunnel_vision_sc.png 2x" data-file-width="523" data-file-height="803" /></a><figcaption>Example of tunnel vision (bottom)</figcaption></figure> <p>The initial retinal degenerative symptoms of retinitis pigmentosa are characterized by decreased <a href="/wiki/Night_vision" title="Night vision">night vision</a> (<a href="/wiki/Nyctalopia" title="Nyctalopia">nyctalopia</a>) and the loss of the mid-peripheral visual field.<sup id="cite_ref-pmid19545852_4-0" class="reference"><a href="#cite_note-pmid19545852-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> The rod photoreceptor cells, which are responsible for low-light vision and are orientated mainly in the retinal periphery, are the retinal processes affected first during non-syndromic (without other conditions) forms of this disease.<sup id="cite_ref-pmid9768836_5-0" class="reference"><a href="#cite_note-pmid9768836-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Visual decline progresses relatively quickly to the far peripheral field, eventually extending into the central visual field as tunnel vision increases. <a href="/wiki/Visual_acuity" title="Visual acuity">Visual acuity</a> and <a href="/wiki/Color_vision" title="Color vision">color vision</a> can become compromised due to accompanying loss of the cone photoreceptor cells, which are responsible for color vision, visual acuity, and sight in the central visual field.<sup id="cite_ref-pmid9768836_5-1" class="reference"><a href="#cite_note-pmid9768836-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> The progression of disease occurs in both eyes in a similar but not identical pattern. A variety of indirect symptoms characterize retinitis pigmentosa along with the direct effects of the initial rod photoreceptor degeneration and later cone photoreceptor decline. Phenomena such as <a href="/wiki/Photophobia" title="Photophobia">photophobia</a> in which light is perceived as an intense <a href="/wiki/Glare_(vision)" title="Glare (vision)">glare</a>, and <a href="/wiki/Photopsia" title="Photopsia">photopsia</a>, the presence of blinking, swirling or shimmering lights spontaneously occurring within the visual field, often manifest during the later stages of RP. </p><p>Findings related to RP have often been characterized in the <a href="/wiki/Fundus_(eye)" title="Fundus (eye)">fundus</a> (back layer) of the eye as the "ophthalmic triad". This includes the development of (1) a <a href="/wiki/Mottled" class="mw-redirect" title="Mottled">mottled</a> appearance of the retina and <a href="/wiki/Retinal_pigment_epithelium" title="Retinal pigment epithelium">retinal pigment epithelium</a> (RPE) that gives the same visual appearance of bone spicule patterns (but are not bone spicules), (2) a waxy yellow appearance of the <a href="/wiki/Optic_disk" class="mw-redirect" title="Optic disk">optic disk</a>, and (3) the <a href="/wiki/Attenuation" title="Attenuation">attenuation</a> of blood vessels in size and arterial/venous ratio as they enter and exit the <a href="/wiki/Optic_disc" title="Optic disc">optic disk</a> of the retina and transverse it.<sup id="cite_ref-pmid19545852_4-1" class="reference"><a href="#cite_note-pmid19545852-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>Non-syndromic RP (RP appears alone without other co-morbidities) usually presents a variety of the following symptoms:<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (April 2019)">citation needed</span></a></i>]</sup> </p> <ul><li><a href="/wiki/Nyctalopia" title="Nyctalopia">Night blindness</a></li> <li><a href="/wiki/Tunnel_vision" title="Tunnel vision">Tunnel vision</a> (due to loss of peripheral vision)</li> <li><a href="/w/index.php?title=Latticework_vision&action=edit&redlink=1" class="new" title="Latticework vision (page does not exist)">Latticework vision</a><sup class="noprint Inline-Template" style="margin-left:0.1em; white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Please_clarify" title="Wikipedia:Please clarify"><span title="What is latticework vision? (September 2021)">clarification needed</span></a></i>]</sup> (due to patchy loss of peripheral vision)</li> <li>loss of <a href="/wiki/Depth_perception" title="Depth perception">depth perception</a><sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Photopsia" title="Photopsia">Photopsia</a> (Spontaneously occurring flashes/blinking/swirling/shimmering lights)</li> <li><a href="/wiki/Photophobia" title="Photophobia">Photophobia</a> (aversion to bright lights)</li> <li>Development of the appearance of melanin pigment in a bone spicule pattern in the fundus (not bone tissue)</li> <li>Slow adjustment from dark to light environments and vice versa</li> <li><a href="/wiki/Blurred_vision" title="Blurred vision">Blurring of vision</a></li> <li>Poor color separation</li> <li>Central vision towards the end of progression, because this is a disease of the rods, and the cones are mostly responsible for central vision (<a href="/wiki/Macula" title="Macula">macula</a> and <a href="/wiki/Fovea_centralis" title="Fovea centralis">fovea</a>)</li> <li>Eventual partial or total <a href="/wiki/Visual_impairment" title="Visual impairment">blindness</a>. The majority of patients do not become <a href="/wiki/Visual_impairment#United_States" title="Visual impairment">totally blind</a>, often retaining limited or non-functional vision.</li></ul> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=2" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>RP may be: (1) non-syndromic, that is, it occurs alone, without any other clinical findings, (2) syndromic, with other neurosensory disorders, <a href="/wiki/Developmental_abnormality" class="mw-redirect" title="Developmental abnormality">developmental abnormalities</a>, or complex clinical findings, or (3) secondary to other systemic diseases.<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <ul><li>RP combined with <a href="/wiki/Deafness" title="Deafness">deafness</a> (<a href="/wiki/Birth_defect" title="Birth defect">congenital</a> or progressive) is called <a href="/wiki/Usher_syndrome" title="Usher syndrome">Usher syndrome</a>.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Alport_syndrome" title="Alport syndrome">Alport's syndrome</a> is associated with RP and an abnormal <a href="/wiki/Glomerular_basement_membrane" title="Glomerular basement membrane">glomerular-basement membrane</a> leading to <a href="/wiki/Nephrotic_syndrome" title="Nephrotic syndrome">nephrotic syndrome</a>. It is inherited as <a href="/wiki/X-linked_dominant_inheritance" title="X-linked dominant inheritance">X-linked dominant</a>.</li> <li>RP combined with <a href="/wiki/Ophthalmoplegia" class="mw-redirect" title="Ophthalmoplegia">ophthalmoplegia</a>, <a href="/wiki/Dysphagia" title="Dysphagia">dysphagia</a>, <a href="/wiki/Ataxia" title="Ataxia">ataxia</a>, and <a href="/wiki/Cardiac_conduction_system" title="Cardiac conduction system">cardiac conduction</a> defects is seen in the <a href="/wiki/Mitochondrial_DNA" title="Mitochondrial DNA">mitochondrial DNA</a> disorder <a href="/wiki/Kearns%E2%80%93Sayre_syndrome" title="Kearns–Sayre syndrome">Kearns–Sayre syndrome</a> (also known as Ragged Red Fiber <a href="/wiki/Myopathy" title="Myopathy">Myopathy</a>).</li> <li>RP combined with intellectual disability, <a href="/wiki/Peripheral_neuropathy" title="Peripheral neuropathy">peripheral neuropathy</a>, acanthotic (spiked) RBCs, ataxia, <a href="/wiki/Steatorrhea" title="Steatorrhea">steatorrhea</a>, and absence of VLDL is seen in <a href="/wiki/Abetalipoproteinemia" title="Abetalipoproteinemia">abetalipoproteinemia</a>.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup></li> <li>RP is seen clinically in association with several other rare <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorders</a> (including <a href="/wiki/Muscular_dystrophy" title="Muscular dystrophy">muscular dystrophy</a> and <a href="/wiki/Chronic_granulomatous_disease" title="Chronic granulomatous disease">chronic granulomatous disease</a>) as part of <a href="/wiki/McLeod_syndrome" title="McLeod syndrome">McLeod syndrome</a>. This is an <a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked recessive</a> <a href="/wiki/Phenotype" title="Phenotype">phenotype</a> characterized by a complete absence of <a href="/wiki/XK_(protein)" title="XK (protein)">XK cell surface proteins</a>, and therefore markedly reduced expression of all <a href="/wiki/Kell_antigen_system" title="Kell antigen system">Kell red blood cell antigens</a>. For <a href="/wiki/Blood_transfusion" title="Blood transfusion">transfusion</a> purposes, these patients are considered completely incompatible with all normal and K0/K0 <a href="/wiki/Blood_donation" title="Blood donation">donors</a>.</li> <li>RP associated with <a href="/wiki/Hypogonadism" title="Hypogonadism">hypogonadism</a>, and <a href="/wiki/Developmental_disability" title="Developmental disability">developmental delay</a> with an <a href="/wiki/Autosomal_recessive_inheritance" class="mw-redirect" title="Autosomal recessive inheritance">autosomal recessive inheritance</a> pattern is seen with <a href="/wiki/Bardet%E2%80%93Biedl_syndrome" title="Bardet–Biedl syndrome">Bardet–Biedl syndrome</a>.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup></li></ul> <p>Other conditions include <a href="/wiki/Neurosyphilis" title="Neurosyphilis">neurosyphilis</a>, <a href="/wiki/Toxoplasmosis" title="Toxoplasmosis">toxoplasmosis</a> and <a href="/wiki/Refsum%27s_disease" class="mw-redirect" title="Refsum's disease">Refsum's disease</a>. </p><p>Acquired conditions resulting in <a href="/wiki/Ophthalmoscopy" title="Ophthalmoscopy">ophthalmoscopic</a> findings resembling RP include eye inflammation associated with infection in early age (<a href="/wiki/Rubella" title="Rubella">rubella</a>, <a href="/wiki/Syphilis" title="Syphilis">syphilis</a>, <a href="/wiki/Toxoplasmosis" title="Toxoplasmosis">toxoplasmosis</a>, <a href="/wiki/Herpesviridae" title="Herpesviridae">herpesvirus</a>), autoimmune paraneoplastic <a href="/wiki/Retinopathy" title="Retinopathy">retinopathy</a>, <a href="/wiki/Adverse_drug_reaction" title="Adverse drug reaction">drug toxicity</a> (<a href="/wiki/Phenothiazine" title="Phenothiazine">phenothiazines</a> and <a href="/wiki/Chloroquine" title="Chloroquine">chloroquine</a>, less commonly with <a href="/wiki/Thioridazine" title="Thioridazine">thioridazine</a> and <a href="/wiki/Hydroxychloroquine" title="Hydroxychloroquine">hydroxychloroquine</a>), <a href="/wiki/Diffuse_unilateral_subacute_neuroretinitis" title="Diffuse unilateral subacute neuroretinitis">diffuse unilateral subacute neuroretinitis</a> and <a href="/wiki/Eye_injury" title="Eye injury">eye trauma</a>. Acquired conditions may be unilateral or bilateral, and static or progressive.<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Genetics">Genetics</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=3" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Retinitis pigmentosa (RP) is one of the most common forms of inherited retinal <a href="/wiki/Degenerative_disease" title="Degenerative disease">degeneration</a>.<sup id="cite_ref-Hartong_13-0" class="reference"><a href="#cite_note-Hartong-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>There are multiple <a href="/wiki/Genes" class="mw-redirect" title="Genes">genes</a> that code for proteins needed in the <a href="/wiki/Visual_system" title="Visual system">visual pathway</a> that, when <a href="/wiki/Mutation" title="Mutation">mutated</a>, can cause the retinitis pigmentosa <a href="/wiki/Phenotype" title="Phenotype">phenotype</a>.<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> Inheritance patterns of RP have been identified as autosomal dominant, autosomal recessive, X-linked, and maternally (<a href="/wiki/Mitochondrial_inheritance" class="mw-redirect" title="Mitochondrial inheritance">mitochondrially</a>) acquired, and are dependent on the specific RP gene mutations present in the parental generation. Autosomal Dominant RP Type 11 (PRPF-31) can be inherited as a genotype only because of <a href="/wiki/Incomplete_penetrance" class="mw-redirect" title="Incomplete penetrance">incomplete penetrance</a>, and is thus coded for in the DNA but does not manifest the disease as a phenotype.<sup id="cite_ref-pmid12015282_15-0" class="reference"><a href="#cite_note-pmid12015282-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> In 1989, a <a href="/wiki/Mutation" title="Mutation">mutation</a> of the gene for <a href="/wiki/Rhodopsin" title="Rhodopsin">rhodopsin</a>, a <a href="/wiki/Pigment" title="Pigment">pigment</a> that plays an essential part in the <a href="/wiki/Visual_phototransduction" title="Visual phototransduction">visual transduction cascade</a> enabling vision in low-light conditions, was identified. The rhodopsin gene <a href="/wiki/Coding_strand" title="Coding strand">encodes</a> a principal protein of photoreceptor outer segments. Mutations in this gene most commonly presents as <a href="/wiki/Missense_mutation" title="Missense mutation">missense mutations</a> or misfolding of the rhodopsin protein, and most frequently follow autosomal dominant inheritance patterns. Since the discovery of the rhodopsin gene, more than 100 RHO mutations have been identified, accounting for 15% of all types of <a href="/wiki/Retinopathy" title="Retinopathy">retinal degeneration</a>, and approximately 25% of <a href="/wiki/Dominance_(genetics)#Autosomal_dominant_gene" title="Dominance (genetics)">autosomal dominant</a> forms of RP.<sup id="cite_ref-Hartong_13-1" class="reference"><a href="#cite_note-Hartong-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Berson_EL,_Rosner_B,_Sandberg_MA,_Dryja_TP_1991_92–101_16-0" class="reference"><a href="#cite_note-Berson_EL,_Rosner_B,_Sandberg_MA,_Dryja_TP_1991_92–101-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p><p>Over 100 mutations have been reported to date in the <a href="/wiki/Opsin" title="Opsin">opsin</a> gene associated with RP since the Pro23His mutation in the intradiscal domain of the protein was first reported in 1990. These mutations are found throughout the opsin gene and are distributed along the three domains of the protein (the intradiscal, <a href="/wiki/Transmembrane" class="mw-redirect" title="Transmembrane">transmembrane</a>, and <a href="/wiki/Cytoplasmic" class="mw-redirect" title="Cytoplasmic">cytoplasmic</a> <a href="/wiki/Protein_domain" title="Protein domain">domains</a>). One of the main <a href="/wiki/Biochemistry" title="Biochemistry">biochemical</a> causes of RP in the case of rhodopsin mutations is <a href="/wiki/Protein_folding" title="Protein folding">protein misfolding</a>, and the disruption of <a href="/wiki/Molecular_chaperones" class="mw-redirect" title="Molecular chaperones">molecular chaperones</a>.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> The mutation of <a href="/wiki/Genetic_code" title="Genetic code">codon</a> 23 in the rhodopsin gene, in which <a href="/wiki/Proline" title="Proline">proline</a> is changed to <a href="/wiki/Histidine" title="Histidine">histidine</a>, accounts for the largest fraction of rhodopsin mutations in the <a href="/wiki/United_States" title="United States">United States</a>. Several other studies have reported various codon mutations associated with retinitis pigmentosa, including Thr58Arg, Pro347Leu, Pro347Ser, as well as deletion of Ile-255.<sup id="cite_ref-Berson_EL,_Rosner_B,_Sandberg_MA,_Dryja_TP_1991_92–101_16-1" class="reference"><a href="#cite_note-Berson_EL,_Rosner_B,_Sandberg_MA,_Dryja_TP_1991_92–101-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> In 2000, a rare mutation in codon 23 was reported causing autosomal dominant retinitis pigmentosa, in which proline changed to <a href="/wiki/Alanine" title="Alanine">alanine</a>. However, this study showed that the retinal <a href="/wiki/Retinopathy" title="Retinopathy">dystrophy</a> associated with this mutation was characteristically mild in presentation and course. Furthermore, there was greater preservation in <a href="/wiki/Electroretinography" title="Electroretinography">electroretinography</a> <a href="/wiki/Amplitude" title="Amplitude">amplitudes</a> than the more prevalent Pro23His mutation.<sup id="cite_ref-pmid10980774_22-0" class="reference"><a href="#cite_note-pmid10980774-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p><p>Autosomal recessive inheritance patterns of RP have been identified in at least 45 genes.<sup id="cite_ref-pmid12015282_15-1" class="reference"><a href="#cite_note-pmid12015282-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> This means that two unaffected individuals who are carriers of the same RP-inducing gene mutation in <a href="/wiki/Diallel_cross" title="Diallel cross">diallelic</a> form can produce offspring with the RP phenotype. A mutation on the USH2A gene is known to cause 10-15% of a syndromic form of RP known as Usher's Syndrome when inherited in an autosomal recessive fashion.<sup id="cite_ref-ghr.nlm.nih.gov_23-0" class="reference"><a href="#cite_note-ghr.nlm.nih.gov-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>Mutations in four <a href="/wiki/Pre-mRNA" class="mw-redirect" title="Pre-mRNA">pre-mRNA</a> <a href="/wiki/Splicing_factor" title="Splicing factor">splicing factors</a> are known to cause <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> retinitis pigmentosa. These are <a href="/wiki/PRPF3" title="PRPF3">PRPF3</a> (human PRPF3 is HPRPF3; also PRP3), <a href="/wiki/PRPF8" title="PRPF8">PRPF8</a>, <a href="/wiki/PRPF31" title="PRPF31">PRPF31</a> and <a href="/wiki/RP9" title="RP9">PAP1</a>. These factors are ubiquitously expressed and it is proposed that defects in a ubiquitous factor (a protein expressed everywhere) should only cause disease in the <a href="/wiki/Retina" title="Retina">retina</a> because the retinal photoreceptor cells have a far greater requirement for protein processing (<a href="/wiki/Rhodopsin" title="Rhodopsin">rhodopsin</a>) than any other cell type.<sup id="cite_ref-24" class="reference"><a href="#cite_note-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> </p><p>The somatic, or <a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked inheritance</a> patterns of RP are currently identified with the mutations of six genes, the most common occurring at specific loci in the RPGR and RP2 genes.<sup id="cite_ref-ghr.nlm.nih.gov_23-1" class="reference"><a href="#cite_note-ghr.nlm.nih.gov-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>Types include: </p> <table class="sortable wikitable"> <tbody><tr> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a> </th> <th>Gene </th> <th>Type </th></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/400004">400004</a> </td> <td><a href="/w/index.php?title=RPY&action=edit&redlink=1" class="new" title="RPY (page does not exist)">RPY</a> </td> <td>Retinitis pigmentosa Y-linked </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/180100">180100</a> </td> <td><a href="/wiki/RP1" title="RP1">RP1</a> </td> <td>Retinitis pigmentosa-1 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/312600">312600</a> </td> <td><a href="/wiki/RP2_(gene)" title="RP2 (gene)">RP2</a> </td> <td>Retinitis pigmentosa-2 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/300029">300029</a> </td> <td><a href="/wiki/RPGR" class="mw-redirect" title="RPGR">RPGR</a> </td> <td>Retinitis pigmentosa-3 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/608133">608133</a> </td> <td><a href="/wiki/PRPH2" class="mw-redirect" title="PRPH2">PRPH2</a> </td> <td>Retinitis pigmentosa-7 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/180104">180104</a> </td> <td><a href="/wiki/RP9" title="RP9">RP9</a> </td> <td>Retinitis pigmentosa-9 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/180105">180105</a> </td> <td><a href="/wiki/IMPDH1" title="IMPDH1">IMPDH1</a> </td> <td>Retinitis pigmentosa-10 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600138">600138</a> </td> <td><a href="/wiki/PRPF31" title="PRPF31">PRPF31</a> Inheritance can be either phenotypic or genotypic. </td> <td>Retinitis pigmentosa-11 Autosomal Dominant </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600105">600105</a> </td> <td><a href="/wiki/CRB1" title="CRB1">CRB1</a> </td> <td>Retinitis pigmentosa-12, autosomal recessive </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600059">600059</a> </td> <td><a href="/wiki/PRPF8" title="PRPF8">PRPF8</a> </td> <td>Retinitis pigmentosa-13 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600132">600132</a> </td> <td><a href="/wiki/TULP1" title="TULP1">TULP1</a> </td> <td>Retinitis pigmentosa-14 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600852">600852</a> </td> <td><a href="/wiki/Carbonic_anhydrase_4" title="Carbonic anhydrase 4">CA4</a> </td> <td>Retinitis pigmentosa-17 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601414">601414</a> </td> <td><a href="/wiki/PRPF3" title="PRPF3">HPRPF3</a> </td> <td>Retinitis pigmentosa-18 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601718">601718</a> </td> <td><a href="/wiki/ABCA4" title="ABCA4">ABCA4</a> </td> <td>Retinitis pigmentosa-19 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/602772">602772</a> </td> <td><a href="/w/index.php?title=EYS_(gene)&action=edit&redlink=1" class="new" title="EYS (gene) (page does not exist)">EYS</a> </td> <td>Retinitis pigmentosa-25 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/608380">608380</a> </td> <td><a href="/w/index.php?title=CERKL&action=edit&redlink=1" class="new" title="CERKL (page does not exist)">CERKL</a> </td> <td>Retinitis pigmentosa-26 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://www.omim.org/entry/606068">606068</a> </td> <td>FAM161A </td> <td>Retinitis pigmentosa-28 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607921">607921</a> </td> <td><a href="/wiki/FSCN2" title="FSCN2">FSCN2</a> </td> <td>Retinitis pigmentosa-30 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/609923">609923</a> </td> <td><a href="/wiki/TOPORS" title="TOPORS">TOPORS</a> </td> <td>Retinitis pigmentosa-31 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/610359">610359</a> </td> <td><a href="/wiki/SNRNP200" class="mw-redirect" title="SNRNP200">SNRNP200</a> </td> <td>Retinitis pigmentosa 33 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/610282">610282</a> </td> <td><a href="/wiki/SEMA4A" title="SEMA4A">SEMA4A</a> </td> <td>Retinitis pigmentosa-35 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/610599">610599</a> </td> <td><a href="/wiki/PRCD" title="PRCD">PRCD</a> </td> <td>Retinitis pigmentosa-36 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/611131">611131</a> </td> <td><a href="/wiki/NR2E3" class="mw-redirect" title="NR2E3">NR2E3</a> </td> <td>Retinitis pigmentosa-37 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/268000">268000</a> </td> <td><a href="/wiki/MERTK" title="MERTK">MERTK</a> </td> <td>Retinitis pigmentosa-38 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/268000">268000</a> </td> <td><a href="/wiki/USH2A" title="USH2A">USH2A</a> </td> <td>Retinitis pigmentosa-39 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612095">612095</a> </td> <td><a href="/wiki/PROM1" class="mw-redirect" title="PROM1">PROM1</a> </td> <td>Retinitis pigmentosa-41 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612943">612943</a> </td> <td><a href="/wiki/KLHL7" class="mw-redirect" title="KLHL7">KLHL7</a> </td> <td>Retinitis pigmentosa-42 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/268000">268000</a> </td> <td><a href="/wiki/CNGB1" title="CNGB1">CNGB1</a> </td> <td>Retinitis pigmentosa-45 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613194">613194</a> </td> <td><a href="/wiki/BEST1" class="mw-redirect" title="BEST1">BEST1</a> </td> <td>Retinitis pigmentosa-50 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613464">613464</a> </td> <td><a href="/wiki/TTC8" title="TTC8">TTC8</a> </td> <td>Retinitis pigmentosa 51 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613428">613428</a> </td> <td><a href="/w/index.php?title=C2orf71&action=edit&redlink=1" class="new" title="C2orf71 (page does not exist)">C2orf71</a> </td> <td>Retinitis pigmentosa 54 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613575">613575</a> </td> <td><a href="/wiki/ARL6" title="ARL6">ARL6</a> </td> <td>Retinitis pigmentosa 55 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613617">613617</a> </td> <td><a href="/w/index.php?title=ZNF513&action=edit&redlink=1" class="new" title="ZNF513 (page does not exist)">ZNF513</a> </td> <td>Retinitis pigmentosa 58 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613861">613861</a> </td> <td><a href="/wiki/DHDDS" class="mw-redirect" title="DHDDS">DHDDS</a> </td> <td>Retinitis pigmentosa 59 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613194">613194</a> </td> <td><a href="/wiki/BEST1" class="mw-redirect" title="BEST1">BEST1</a> </td> <td>Retinitis pigmentosa, concentric </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/608133">608133</a> </td> <td><a href="/wiki/PRPH2" class="mw-redirect" title="PRPH2">PRPH2</a> </td> <td>Retinitis pigmentosa, digenic </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613341">613341</a> </td> <td><a href="/wiki/Lecithin_retinol_acyltransferase" title="Lecithin retinol acyltransferase">LRAT</a> </td> <td>Retinitis pigmentosa, juvenile </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/268000">268000</a> </td> <td><a href="/wiki/SPATA7" title="SPATA7">SPATA7</a> </td> <td>Retinitis pigmentosa, juvenile, autosomal recessive </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/268000">268000</a> </td> <td><a href="/wiki/CRX_(gene)" title="CRX (gene)">CRX</a> </td> <td>Retinitis pigmentosa, late-onset dominant </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/300455">300455</a> </td> <td><a href="/wiki/RPGR" class="mw-redirect" title="RPGR">RPGR</a> </td> <td>Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Pathophysiology">Pathophysiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=4" title="Edit section: Pathophysiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:ScanEMphoto.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/0/01/ScanEMphoto.jpg/220px-ScanEMphoto.jpg" decoding="async" width="220" height="267" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/0/01/ScanEMphoto.jpg/330px-ScanEMphoto.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/0/01/ScanEMphoto.jpg/440px-ScanEMphoto.jpg 2x" data-file-width="577" data-file-height="700" /></a><figcaption>Scanning electron micrograph depicting the retinal <a href="/wiki/Rod_cell" title="Rod cell">rod</a> and <a href="/wiki/Cone_cell" title="Cone cell">cone</a> photoreceptors. The elongated rods are colored yellow and orange, while the shorter cones are colored red.</figcaption></figure> <p>A variety of retinal molecular pathway defects have been matched to multiple known RP gene <a href="/wiki/Mutation" title="Mutation">mutations</a>. Mutations in the <a href="/wiki/Rhodopsin" title="Rhodopsin">rhodopsin</a> gene (<i>RHO</i>), which is responsible for the majority of autosomal-dominantly inherited RP cases, disrupts the rhodopsin protein essential for translating light into decipherable electrical signals within the <a href="/wiki/Visual_phototransduction" title="Visual phototransduction">phototransduction cascade</a> of the <a href="/wiki/Central_nervous_system" title="Central nervous system">central nervous system</a>. Defects in the activity of this <a href="/wiki/G-protein-coupled_receptor" class="mw-redirect" title="G-protein-coupled receptor">G-protein-coupled receptor</a> are classified into distinct classes that depend on the specific folding abnormality and the resulting molecular pathway defects. The Class I mutant protein's activity is compromised as specific point mutations in the protein-coding <a href="/wiki/Amino_acid" title="Amino acid">amino acid</a> sequence affect the pigment protein's transport to the outer segment of the eye, where the <a href="/wiki/Visual_phototransduction" title="Visual phototransduction">phototransduction cascade</a> is localized. Additionally, the misfolding of Class II rhodopsin gene mutations disrupts the protein's conjunction with 11-cis-retinal to induce proper <a href="/wiki/Chromophore" title="Chromophore">chromophore</a> formation. Additional mutants in this pigment-encoding gene affect protein stability, disrupt mRNA integrity post-translationally, and affect the activation rates of <a href="/wiki/Transducin" title="Transducin">transducin</a> and <a href="/wiki/Opsin" title="Opsin">opsin</a> optical proteins.<sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> </p><p>Additionally, animal models suggest that the <a href="/wiki/Retinal_pigment_epithelium" title="Retinal pigment epithelium">retinal pigment epithelium</a> fails to <a href="/wiki/Phagocytose" class="mw-redirect" title="Phagocytose">phagocytose</a> the outer rod segment discs that have been shed, leading to an accumulation of outer rod segment debris. In mice that are <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">homozygous recessive</a> for retinal degeneration mutation, rod photoreceptors stop developing and undergo degeneration before cellular maturation completes. A defect in cGMP-phosphodiesterase has also been documented; this leads to toxic levels of cGMP. </p><p><a href="/wiki/Oxidative_stress" title="Oxidative stress">Oxidative damage</a> associated with <a href="/wiki/Lipid_peroxidation" title="Lipid peroxidation">lipid peroxidation</a> is a potential cause of cone cell death in retinitis pigmentosa.<sup id="cite_ref-26" class="reference"><a href="#cite_note-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=5" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>An accurate <a href="/wiki/Medical_diagnosis" title="Medical diagnosis">diagnosis</a> of retinitis pigmentosa relies on the documentation of the progressive loss of <a href="/wiki/Photoreceptor_cell" title="Photoreceptor cell">photoreceptor cell</a> function, confirmed by a combination of <a href="/wiki/Visual_field_test" title="Visual field test">visual field</a> and <a href="/wiki/Visual_acuity" title="Visual acuity">visual acuity</a> tests, fundus and optical coherence imagery, and <a href="/wiki/Electroretinography" title="Electroretinography">electroretinography</a> (ERG).<sup id="cite_ref-kellogg.umich.edu_27-0" class="reference"><a href="#cite_note-kellogg.umich.edu-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> </p><p>Visual field and acuity tests measure and compare the size of the patient's field of vision and the clarity of their visual perception with the standard visual measurements associated with healthy 20/20 vision. Clinical diagnostic features indicative of retinitis pigmentosa include a substantially small and progressively decreasing visual area in the visual field test, and compromised levels of clarity measured during the visual acuity test.<sup id="cite_ref-28" class="reference"><a href="#cite_note-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> Additionally, optical tomography such as fundus and retinal (optical coherence) imagery provide further diagnostic tools when determining an RP diagnosis. Photographing the back of the dilated eye allows the confirmation of bone spicule accumulation in the fundus, which presents during the later stages of RP retinal degeneration. Combined with cross-sectional imagery of optical coherence tomography, which provides clues into photoreceptor thickness, retinal layer morphology, and retinal pigment epithelium physiology, fundus imagery can help determine the state of RP progression.<sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> </p><p>While visual field and acuity test results combined with retinal imagery support the diagnosis of retinitis pigmentosa, additional testing is necessary to confirm other pathological features of this disease. <a href="/wiki/Electroretinography" title="Electroretinography">Electroretinography</a> (ERG) confirms the RP diagnosis by evaluating functional aspects associated with photoreceptor degeneration, and can detect physiological abnormalities before the initial manifestation of symptoms. An electrode lens is applied to the eye as photoreceptor response to varying degrees of quick light pulses is measured. Patients exhibiting the retinitis pigmentosa phenotype would show decreased or delayed electrical response in the rod photoreceptors, as well as possibly compromised cone photoreceptor cell response. </p><p>The patient's family history is also considered when determining a diagnosis due to the genetic mode of inheritance of retinitis pigmentosa. At least 35 different <a href="/wiki/Gene" title="Gene">genes</a> or <a href="/wiki/Locus_(genetics)" title="Locus (genetics)">loci</a> are known to cause nonsyndromic RP. Indications of the RP mutation type can be determined through <a href="/wiki/DNA_testing" class="mw-redirect" title="DNA testing">DNA testing</a>, which is available on a clinical basis for: </p> <ul><li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=RLBP1">RLBP1</a></i> (autosomal recessive, Bothnia type RP)</li> <li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=RP1">RP1</a></i> (autosomal dominant, RP1)</li> <li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=RHO">RHO</a></i> (autosomal dominant, RP4)</li> <li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=RDS">RDS</a></i> (autosomal dominant, RP7)</li> <li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=PRPF8">PRPF8</a></i> (autosomal dominant, RP13)</li> <li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=PRPF3">PRPF3</a></i> (autosomal dominant, RP18)</li> <li><a href="/wiki/CRB1" title="CRB1">CRB1</a> (autosomal recessive, RP12)</li> <li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=ABCA4">ABCA4</a></i> (autosomal recessive, RP19)</li> <li><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/genes?query=RPE65">RPE65</a></i> (autosomal recessive, RP20)<sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup></li></ul> <p>For all other genes (e.g. <a href="/wiki/Dehydrodolichyl_diphosphate_synthase" title="Dehydrodolichyl diphosphate synthase">DHDDS</a>), molecular <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a> is available on a research basis only. </p><p>RP can be inherited in an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a>, <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a>, <a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a> or <a href="/wiki/Y_linkage" title="Y linkage">Y-linked</a><sup id="cite_ref-31" class="reference"><a href="#cite_note-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> manner. X-linked RP can be either <a href="/wiki/Recessive" class="mw-redirect" title="Recessive">recessive</a>, affecting primarily only males, or <a href="/wiki/Dominant_allele" class="mw-redirect" title="Dominant allele">dominant</a>, affecting both males and females, although males are usually more mildly affected. Some digenic (controlled by two genes) and <a href="/wiki/Mitochondrial" class="mw-redirect" title="Mitochondrial">mitochondrial</a> forms have also been described. </p><p><a href="/wiki/Genetic_counseling" title="Genetic counseling">Genetic counseling</a> depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing. </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=6" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There is currently no cure for retinitis pigmentosa, but the efficacy and safety of various prospective treatments are currently being evaluated. The efficiency of various supplements, such as vitamin A, <a href="/wiki/Docosahexaenoic_acid" title="Docosahexaenoic acid">DHA</a>, NAC, and <a href="/wiki/Lutein" title="Lutein">lutein</a>, in delaying disease progression remains an unresolved, yet prospective treatment option.<sup id="cite_ref-32" class="reference"><a href="#cite_note-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-33" class="reference"><a href="#cite_note-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup> Clinical trials investigating optic prosthetic devices, gene therapy mechanisms, and retinal sheet transplantations are active areas of study in the partial restoration of vision in retinitis pigmentosa patients.<sup id="cite_ref-pmid25209781_34-0" class="reference"><a href="#cite_note-pmid25209781-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Stalling_of_disease">Stalling of disease</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=7" title="Edit section: Stalling of disease"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Studies have demonstrated the delay of rod photoreceptor degeneration by the daily intake of 15000 <a href="/wiki/International_unit" title="International unit">IU</a> (equivalent to 4.5 mg) of <a href="/wiki/Vitamin_A_palmitate" class="mw-redirect" title="Vitamin A palmitate">vitamin A palmitate</a>; thus, stalling disease progression in some patients.<sup id="cite_ref-pmid8512476_35-0" class="reference"><a href="#cite_note-pmid8512476-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> Recent investigations have shown that proper <a href="/wiki/Vitamin_A" title="Vitamin A">vitamin A</a> supplementation can postpone blindness by up to 10 years (by reducing the 10% loss pa to 8.3% pa) in some patients in certain stages of the disease.<sup id="cite_ref-pmid17531222_36-0" class="reference"><a href="#cite_note-pmid17531222-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Bone_marrow_derived_stem_cells_(BMSC)"><span id="Bone_marrow_derived_stem_cells_.28BMSC.29"></span>Bone marrow derived stem cells (BMSC)</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=8" title="Edit section: Bone marrow derived stem cells (BMSC)"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>MD Stem Cells, a clinical research company using autologous bone marrow derived stem cells (BMSC) in the treatment of retinal and optic nerve disease, published results from the Retinitis Pigmentosa cohort within their ongoing NIH registered Stem Cell Ophthalmology Study II (SCOTS2) clinical trial (NCT 03011541).<sup id="cite_ref-37" class="reference"><a href="#cite_note-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> Outcomes were encouraging with 45.5% of eyes showing an average of 7.9 lines of improvement (40.9% LogMAR improvement over baseline) and 45.5% of eyes showing stable acuity over the follow-up. Results were statistically significant(p=0.016).<sup id="cite_ref-38" class="reference"><a href="#cite_note-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> Retinitis Pigmentosa continues to be treated and evaluated in the study. </p> <div class="mw-heading mw-heading3"><h3 id="Argus_retinal_prosthesis">Argus retinal prosthesis</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=9" title="Edit section: Argus retinal prosthesis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The <a href="/wiki/Argus_retinal_prosthesis" title="Argus retinal prosthesis">Argus retinal prosthesis</a> became the first approved treatment for the disease in February 2011, and is currently available in Germany, France, Italy, and the UK.<sup id="cite_ref-39" class="reference"><a href="#cite_note-39"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup> Interim results on 30 patients long term trials were published in 2012.<sup id="cite_ref-pmid22244176_40-0" class="reference"><a href="#cite_note-pmid22244176-40"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup> The Argus II retinal implant has also received market approval in the US.<sup id="cite_ref-41" class="reference"><a href="#cite_note-41"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup> The device may help adults with RP who have lost the ability to perceive shapes and movement to be more mobile and to perform day-to-day activities. In June 2013, twelve hospitals in the US announced they would soon accept consultation for patients with RP in preparation for the launch of Argus II later that year.<sup id="cite_ref-Science_Daily_42-0" class="reference"><a href="#cite_note-Science_Daily-42"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup><sup class="noprint Inline-Template" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag may rely on an unreliable or less reliable medical source. (November 2017)">unreliable medical source?</span></a></i>]</sup> The Alpha-IMS is a <a href="/wiki/Retinal_implant" title="Retinal implant">subretinal implant</a> involving the surgical implantation of a small image-recording chip beneath the optic <a href="/wiki/Fovea_centralis" title="Fovea centralis">fovea</a>. Measures of visual improvements from Alpha-IMS studies require the demonstration of the device's safety before proceeding with clinical trials and granting market approval.<sup id="cite_ref-43" class="reference"><a href="#cite_note-43"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Gene_therapy">Gene therapy</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=10" title="Edit section: Gene therapy"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The goal of <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> studies is to virally supplement retinal cells expressing mutant genes associated with the retinitis pigmentosa phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene. Clinical trials investigating the insertion of the healthy RPE65 gene in retinas expressing the <a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">LCA2</a> retinitis pigmentosa phenotype measured modest improvements in vision; however, the degradation of retinal photoreceptors continued at the disease-related rate.<sup id="cite_ref-44" class="reference"><a href="#cite_note-44"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup> Likely, gene therapy may preserve remaining healthy retinal cells while failing to repair the earlier accumulation of damage in already diseased photoreceptor cells.<sup id="cite_ref-pmid25209781_34-1" class="reference"><a href="#cite_note-pmid25209781-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> Response to <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> would theoretically benefit young patients exhibiting the shortest progression of photoreceptor decline; thus, correlating to a higher possibility of cell rescue via the healthy inserted gene.<sup id="cite_ref-45" class="reference"><a href="#cite_note-45"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Drugs">Drugs</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=11" title="Edit section: Drugs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1251242444">.mw-parser-output .ambox{border:1px solid #a2a9b1;border-left:10px solid #36c;background-color:#fbfbfb;box-sizing:border-box}.mw-parser-output .ambox+link+.ambox,.mw-parser-output .ambox+link+style+.ambox,.mw-parser-output .ambox+link+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+style+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+link+.ambox{margin-top:-1px}html body.mediawiki .mw-parser-output .ambox.mbox-small-left{margin:4px 1em 4px 0;overflow:hidden;width:238px;border-collapse:collapse;font-size:88%;line-height:1.25em}.mw-parser-output .ambox-speedy{border-left:10px solid #b32424;background-color:#fee7e6}.mw-parser-output .ambox-delete{border-left:10px solid #b32424}.mw-parser-output .ambox-content{border-left:10px solid #f28500}.mw-parser-output .ambox-style{border-left:10px solid #fc3}.mw-parser-output .ambox-move{border-left:10px solid #9932cc}.mw-parser-output .ambox-protection{border-left:10px solid #a2a9b1}.mw-parser-output .ambox .mbox-text{border:none;padding:0.25em 0.5em;width:100%}.mw-parser-output .ambox .mbox-image{border:none;padding:2px 0 2px 0.5em;text-align:center}.mw-parser-output .ambox .mbox-imageright{border:none;padding:2px 0.5em 2px 0;text-align:center}.mw-parser-output .ambox .mbox-empty-cell{border:none;padding:0;width:1px}.mw-parser-output .ambox .mbox-image-div{width:52px}@media(min-width:720px){.mw-parser-output .ambox{margin:0 10%}}@media print{body.ns-0 .mw-parser-output .ambox{display:none!important}}</style><table class="box-Expand_section plainlinks metadata ambox mbox-small-left ambox-content" role="presentation"><tbody><tr><td class="mbox-image"><span typeof="mw:File"><a href="/wiki/File:Wiki_letter_w_cropped.svg" class="mw-file-description"><img alt="[icon]" src="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/20px-Wiki_letter_w_cropped.svg.png" decoding="async" width="20" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/30px-Wiki_letter_w_cropped.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/40px-Wiki_letter_w_cropped.svg.png 2x" data-file-width="44" data-file-height="31" /></a></span></td><td class="mbox-text"><div class="mbox-text-span">This section <b>needs expansion</b>. You can help by <a class="external text" href="https://en.wikipedia.org/w/index.php?title=Retinitis_pigmentosa&action=edit&section=11">adding to it</a>.<br /><span class="plainlinks"><i>Find sources:</i> <a rel="nofollow" class="external text" href="https://www.google.com/search?as_eq=wikipedia&q=%22Retinitis+pigmentosa+Disulfiram%22">"Retinitis pigmentosa Disulfiram"</a> – <a rel="nofollow" class="external text" href="https://www.google.com/search?tbm=nws&q=%22Retinitis+pigmentosa+Disulfiram%22+-wikipedia&tbs=ar:1">news</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?&q=%22Retinitis+pigmentosa+Disulfiram%22&tbs=bkt:s&tbm=bks">newspapers</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?tbs=bks:1&q=%22Retinitis+pigmentosa+Disulfiram%22+-wikipedia">books</a> <b>·</b> <a rel="nofollow" class="external text" href="https://scholar.google.com/scholar?q=%22Retinitis+pigmentosa+Disulfiram%22">scholar</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.jstor.org/action/doBasicSearch?Query=%22Retinitis+pigmentosa+Disulfiram%22&acc=on&wc=on">JSTOR</a></span> <span class="date-container"><i>(<span class="date">April 2022</span>)</i></span></div></td></tr></tbody></table> <p>One study at UC Berkeley found that <a href="/wiki/Disulfiram" title="Disulfiram">disulfiram</a>, a drug used to treat alcoholism in humans, had potential to partially restore vision loss in rats with retinitis pigmentosa, even during late stages of the disease.<sup id="cite_ref-46" class="reference"><a href="#cite_note-46"><span class="cite-bracket">[</span>46<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-47" class="reference"><a href="#cite_note-47"><span class="cite-bracket">[</span>47<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-48" class="reference"><a href="#cite_note-48"><span class="cite-bracket">[</span>48<span class="cite-bracket">]</span></a></sup> Efforts to continue research in humans is ongoing. </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=12" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The progressive nature of and lack of a definitive cure for retinitis pigmentosa contribute to the inevitably discouraging outlook for patients with this disease. While complete blindness is rare, the person's visual acuity and visual field will continue to decline as initial rod photoreceptor and later cone photoreceptor degradation proceeds.<sup id="cite_ref-49" class="reference"><a href="#cite_note-49"><span class="cite-bracket">[</span>49<span class="cite-bracket">]</span></a></sup> </p><p>Studies indicate that children carrying the disease genotype benefit from <a href="/wiki/Genetic_counseling" title="Genetic counseling">presymptomatic counseling</a> in order to prepare for the physical and social implications associated with progressive vision loss. While the psychological prognosis can be slightly alleviated with active counseling<sup id="cite_ref-50" class="reference"><a href="#cite_note-50"><span class="cite-bracket">[</span>50<span class="cite-bracket">]</span></a></sup> the physical implications and progression of the disease depend largely on the age of initial symptom manifestation and the rate of photoreceptor degradation, rather than access to prospective treatments. Corrective visual aids and personalized vision therapy provided by Low Vision Specialists may help patients correct slight disturbances in visual acuity and optimize their remaining visual field. Support groups, vision insurance, and lifestyle therapy are additional useful tools for those managing progressive visual decline.<sup id="cite_ref-kellogg.umich.edu_27-1" class="reference"><a href="#cite_note-kellogg.umich.edu-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=13" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Retinitis pigmentosa is the leading cause of inherited blindness,<sup id="cite_ref-51" class="reference"><a href="#cite_note-51"><span class="cite-bracket">[</span>51<span class="cite-bracket">]</span></a></sup> with approximately 1/4,000 individuals experiencing the non-syndromic form of their disease within their lifetime.<sup id="cite_ref-52" class="reference"><a href="#cite_note-52"><span class="cite-bracket">[</span>52<span class="cite-bracket">]</span></a></sup> It is estimated that 1.5 million people worldwide are currently affected. Early onset RP occurs within the first few years of life and is typically associated with syndromic disease forms, while late onset RP emerges from early to mid-adulthood. </p><p>Autosomal dominant and recessive forms of retinitis pigmentosa affect both male and female populations equally; however, the less frequent X-linked form of the disease affects male recipients of the X-linked mutation, while females usually remain unaffected carriers of the RP trait. The X-linked forms of the disease are considered severe, and typically lead to complete blindness during later stages. In rare occasions, a dominant form of the <a href="/wiki/X-linked_dominant_inheritance" title="X-linked dominant inheritance">X-linked gene mutation</a> will affect both males and females equally.<sup id="cite_ref-53" class="reference"><a href="#cite_note-53"><span class="cite-bracket">[</span>53<span class="cite-bracket">]</span></a></sup> </p><p>Due to the genetic inheritance patterns of RP, many isolate populations exhibit higher disease frequencies or increased prevalence of a specific RP mutation. Pre-existing or emerging mutations that contribute to rod photoreceptor degeneration in retinitis pigmentosa are passed down through familial lines; thus, allowing certain RP cases to be concentrated to specific geographical regions with an ancestral history of the disease. Several hereditary studies have been performed to determine the varying prevalence rates in Maine (USA), Birmingham (England), Switzerland (affects 1/7000), Denmark (affects 1/2500), and Norway.<sup id="cite_ref-54" class="reference"><a href="#cite_note-54"><span class="cite-bracket">[</span>54<span class="cite-bracket">]</span></a></sup> Navajo Indians display an elevated rate of RP inheritance as well, which is estimated as affecting 1 in 1878 individuals. Despite the increased frequency of RP within specific familial lines, the disease is considered non-discriminatory and tends to equally affect all world populations. </p> <div class="mw-heading mw-heading2"><h2 id="Research">Research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=14" title="Edit section: Research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Future treatments may involve retinal <a href="/wiki/Organ_transplant" class="mw-redirect" title="Organ transplant">transplants</a>,<sup id="cite_ref-55" class="reference"><a href="#cite_note-55"><span class="cite-bracket">[</span>55<span class="cite-bracket">]</span></a></sup> artificial <a href="/wiki/Retinal_implant" title="Retinal implant">retinal implants</a>,<sup id="cite_ref-56" class="reference"><a href="#cite_note-56"><span class="cite-bracket">[</span>56<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a>, <a href="/wiki/Stem_cell" title="Stem cell">stem cells</a>, <a href="/wiki/Dietary_supplement" title="Dietary supplement">nutritional supplements</a>, and/or <a href="/wiki/Pharmacology" title="Pharmacology">drug therapies</a>. </p><p>2012: Scientists at the University of Miami <a href="/wiki/Bascom_Palmer_Eye_Institute" title="Bascom Palmer Eye Institute">Bascom Palmer Eye Institute</a> presented data showing protection of photoreceptors in an animal model when eyes were injected with mesencephalic astrocyte-derived neurotrophic factor (<a href="/wiki/MANF_(gene)" class="mw-redirect" title="MANF (gene)">MANF</a>).<sup id="cite_ref-57" class="reference"><a href="#cite_note-57"><span class="cite-bracket">[</span>57<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-58" class="reference"><a href="#cite_note-58"><span class="cite-bracket">[</span>58<span class="cite-bracket">]</span></a></sup> Researchers at the University of California, Berkeley were able to restore vision to blind mice by exploiting a "photoswitch" that activates retinal ganglion cells in animals with damaged rod and cone cells.<sup id="cite_ref-59" class="reference"><a href="#cite_note-59"><span class="cite-bracket">[</span>59<span class="cite-bracket">]</span></a></sup> </p><p>2015: A study by Bakondi et al. at <a href="/wiki/Cedars-Sinai_Medical_Center" title="Cedars-Sinai Medical Center">Cedars-Sinai Medical Center</a> showed that <a href="/wiki/CRISPR" title="CRISPR">CRISPR</a>/Cas9 can be used to treat rats with the autosomal dominant form of retinitis pigmentosa.<sup id="cite_ref-60" class="reference"><a href="#cite_note-60"><span class="cite-bracket">[</span>60<span class="cite-bracket">]</span></a></sup> Researchers find that two molecules, rod-derived cone viability factor (RdCVF) and <a href="/wiki/NRF2" class="mw-redirect" title="NRF2">Nrf2</a>, can protect cone photoreceptors in mouse models of retinitis pigmentosa.<sup id="cite_ref-61" class="reference"><a href="#cite_note-61"><span class="cite-bracket">[</span>61<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-62" class="reference"><a href="#cite_note-62"><span class="cite-bracket">[</span>62<span class="cite-bracket">]</span></a></sup> </p><p>2016: RetroSense Therapeutics aimed to inject viruses with DNA from light-sensitive algae into the eyes of several blind people (who have retinitis pigmentosa). If successful, they will be able to see in black and white.<sup id="cite_ref-63" class="reference"><a href="#cite_note-63"><span class="cite-bracket">[</span>63<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-64" class="reference"><a href="#cite_note-64"><span class="cite-bracket">[</span>64<span class="cite-bracket">]</span></a></sup> </p><p>In 2017 the FDA approved the gene therapy <a href="/wiki/Voretigene_neparvovec" title="Voretigene neparvovec">voretigene neparvovec</a> to treat people with biallelic RPE65 mutation-associated retinal dystrophy.<sup id="cite_ref-65" class="reference"><a href="#cite_note-65"><span class="cite-bracket">[</span>65<span class="cite-bracket">]</span></a></sup> </p><p>In 2020, a literature review estimated the experimental therapeutic technique called <a href="/wiki/Transcorneal_electrical_stimulation" title="Transcorneal electrical stimulation">transcorneal electrical stimulation</a> as "probably effective" (level B) in retinitis pigmentosa, based on the evidence available at that time.<sup id="cite_ref-pmid31884495_66-0" class="reference"><a href="#cite_note-pmid31884495-66"><span class="cite-bracket">[</span>66<span class="cite-bracket">]</span></a></sup> </p><p>In 2021 an <a href="/wiki/Optogenetics" title="Optogenetics">optogenetics</a> application of the protein <a href="/wiki/Channelrhodopsin" title="Channelrhodopsin">Channelrhodopsin</a> in a human patient was reported with partial recovery of non-functional vision in a series of one patient only. They did not use standard protocol to measure visual improvement, but created their own criteria.<sup id="cite_ref-67" class="reference"><a href="#cite_note-67"><span class="cite-bracket">[</span>67<span class="cite-bracket">]</span></a></sup> The serendipitous discovery of the novel algal <a href="/wiki/Channelrhodopsin" title="Channelrhodopsin">channelrhodopsin</a> used came out of the <a href="/wiki/1000_Plant_Genomes_Project" title="1000 Plant Genomes Project">1000 Plant Genomes Project</a>.<sup id="cite_ref-68" class="reference"><a href="#cite_note-68"><span class="cite-bracket">[</span>68<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Notable_cases">Notable cases</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=15" title="Edit section: Notable cases"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Jennifer_L._Armentrout" title="Jennifer L. Armentrout">Jennifer L. Armentrout</a>, American author of YA paranormal and Science Fiction</li> <li><a href="/wiki/Walt_Bodine" title="Walt Bodine">Walt Bodine</a>. American broadcaster, Kansas City</li> <li><a href="/wiki/Willie_Brown_(politician)" title="Willie Brown (politician)">Willie Brown</a>, 41st Mayor of San Francisco, California</li> <li><a href="/wiki/Alex_Bulmer" title="Alex Bulmer">Alex Bulmer</a>, Canadian playwright<sup id="cite_ref-69" class="reference"><a href="#cite_note-69"><span class="cite-bracket">[</span>69<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Molly_Burke" title="Molly Burke">Molly Burke</a>, Canadian YouTuber and motivational speaker</li> <li><a href="/wiki/Mark_Erelli" title="Mark Erelli">Mark Erelli</a>, American singer/songwriter, guitarist for <a href="/wiki/Lori_McKenna" title="Lori McKenna">Lori McKenna</a><sup id="cite_ref-70" class="reference"><a href="#cite_note-70"><span class="cite-bracket">[</span>70<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Neil_Fachie" title="Neil Fachie">Neil Fachie</a>, British paralympic cyclist<sup id="cite_ref-71" class="reference"><a href="#cite_note-71"><span class="cite-bracket">[</span>71<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/William_(Bill)_Fulton" class="mw-redirect" title="William (Bill) Fulton">William (Bill) Fulton</a>, urban planner, author, and former Mayor of Ventura, California</li> <li><a href="/wiki/Gordon_Gund" title="Gordon Gund">Gordon Gund</a>, American businessman and professional sports team owner</li> <li><a href="/wiki/Rigo_Tovar" title="Rigo Tovar">Rigo Tovar</a>, Mexican musician, singer and actor</li> <li><a href="/wiki/Lindy_Hou" title="Lindy Hou">Lindy Hou</a>, Australian tandem cyclist and triathlete<sup id="cite_ref-72" class="reference"><a href="#cite_note-72"><span class="cite-bracket">[</span>72<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Amar_Latif" title="Amar Latif">Amar Latif</a>, entrepreneur, television personality and professional traveller</li> <li><a href="/wiki/Rachael_Leahcar" title="Rachael Leahcar">Rachael Leahcar</a>, Australian singer/songwriter, actress and motivational speaker</li> <li><a href="/wiki/Steve_Lonegan" title="Steve Lonegan">Steve Lonegan</a>, Mayor of Bogota, New Jersey; Republican candidate for U.S. Senate<sup id="cite_ref-73" class="reference"><a href="#cite_note-73"><span class="cite-bracket">[</span>73<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Chris_McCausland" title="Chris McCausland">Chris McCausland</a>, British stand-up comedian and actor</li> <li><a href="/wiki/Robin_Millar" title="Robin Millar">Robin Millar</a>, English record producer, musician and businessman<sup id="cite_ref-74" class="reference"><a href="#cite_note-74"><span class="cite-bracket">[</span>74<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Woody_Shaw" title="Woody Shaw">Woody Shaw</a>, American jazz trumpeter<sup id="cite_ref-75" class="reference"><a href="#cite_note-75"><span class="cite-bracket">[</span>75<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Regina_Sorenson" class="mw-redirect" title="Regina Sorenson">Regina Sorenson</a>, Australian television personality<sup id="cite_ref-76" class="reference"><a href="#cite_note-76"><span class="cite-bracket">[</span>76<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Shel_Talmy" title="Shel Talmy">Shel Talmy</a>, American record producer, songwriter and arranger<sup id="cite_ref-77" class="reference"><a href="#cite_note-77"><span class="cite-bracket">[</span>77<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Sabriye_Tenberken" title="Sabriye Tenberken">Sabriye Tenberken</a>, German Tibetologist and developer of <a href="/wiki/Tibetan_Braille" title="Tibetan Braille">Tibetan Braille</a></li> <li><a href="/wiki/Danelle_Umstead" title="Danelle Umstead">Danelle Umstead</a>, American Paralympic alpine skier, <i><a href="/wiki/Dancing_with_the_Stars_(U.S._TV_series)" class="mw-redirect" title="Dancing with the Stars (U.S. TV series)">Dancing with the Stars</a></i> contestant<sup id="cite_ref-78" class="reference"><a href="#cite_note-78"><span class="cite-bracket">[</span>78<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Jon_Wellner" title="Jon Wellner">Jon Wellner</a>, American actor<sup id="cite_ref-79" class="reference"><a href="#cite_note-79"><span class="cite-bracket">[</span>79<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Steve_Wynn" title="Steve Wynn">Steve Wynn</a>, American business magnate and Las Vegas casino developer<sup id="cite_ref-80" class="reference"><a href="#cite_note-80"><span class="cite-bracket">[</span>80<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Sheena_Iyengar" title="Sheena Iyengar">Sheena Iyengar</a>, S.T. Lee Professor of Business in the Management Department at Columbia Business School<sup id="cite_ref-81" class="reference"><a href="#cite_note-81"><span class="cite-bracket">[</span>81<span class="cite-bracket">]</span></a></sup></li></ul> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=16" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1184024115">.mw-parser-output .div-col{margin-top:0.3em;column-width:30em}.mw-parser-output .div-col-small{font-size:90%}.mw-parser-output .div-col-rules{column-rule:1px solid #aaa}.mw-parser-output .div-col dl,.mw-parser-output .div-col ol,.mw-parser-output .div-col ul{margin-top:0}.mw-parser-output .div-col li,.mw-parser-output .div-col dd{page-break-inside:avoid;break-inside:avoid-column}</style><div class="div-col" style="column-width: 30em;"> <ul><li><a href="/wiki/Cone_dystrophy" title="Cone dystrophy">Cone dystrophy</a></li> <li><a href="/wiki/Eye_disease" title="Eye disease">List of eye diseases and disorders</a></li> <li><a href="/wiki/Progressive_retinal_atrophy" title="Progressive retinal atrophy">Progressive retinal atrophy</a> for the condition in dogs</li> <li><a href="/w/index.php?title=Retinal_degeneration_(rhodopsin_mutation)&action=edit&redlink=1" class="new" title="Retinal degeneration (rhodopsin mutation) (page does not exist)">Retinal degeneration (rhodopsin mutation)</a></li> <li><a href="/wiki/Retinitis_pigmentosa_GTPase_regulator" title="Retinitis pigmentosa GTPase regulator">Retinitis pigmentosa GTPase regulator</a></li> <li><a href="/wiki/Retinitis_Pigmentosa_International" title="Retinitis Pigmentosa International">Retinitis Pigmentosa International</a></li></ul> </div> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Retinitis_pigmentosa&action=edit&section=17" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist reflist-columns references-column-width" style="column-width: 30em;"> <ol class="references"> <li id="cite_note-NIH2014-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-NIH2014_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-NIH2014_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-NIH2014_1-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-NIH2014_1-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-NIH2014_1-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-NIH2014_1-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-NIH2014_1-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-NIH2014_1-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-NIH2014_1-8"><sup><i><b>i</b></i></sup></a> 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Retrieved <span class="nowrap">October 5,</span> 2010</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=CSI+Cast%3A+Jon+Wellner&rft.pub=CBS&rft_id=http%3A%2F%2Fwww.cbs.com%2Fprimetime%2Fcsi%2Fcast%2Fjon-wellner%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ARetinitis+pigmentosa" class="Z3988"></span></span> </li> <li id="cite_note-80"><span class="mw-cite-backlink"><b><a href="#cite_ref-80">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFPaumgarten2006" class="citation magazine cs1">Paumgarten N (2006-10-16). <a rel="nofollow" class="external text" href="http://www.newyorker.com/archive/2006/10/23/061023ta_talk_paumgarten">"Doh! Dept: The $40-Million Elbow"</a>. <i>The New Yorker</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2012-08-13</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+New+Yorker&rft.atitle=Doh%21+Dept%3A+The+%2440-Million+Elbow&rft.date=2006-10-16&rft.aulast=Paumgarten&rft.aufirst=Nick&rft_id=http%3A%2F%2Fwww.newyorker.com%2Farchive%2F2006%2F10%2F23%2F061023ta_talk_paumgarten&rfr_id=info%3Asid%2Fen.wikipedia.org%3ARetinitis+pigmentosa" class="Z3988"></span></span> </li> <li id="cite_note-81"><span class="mw-cite-backlink"><b><a href="#cite_ref-81">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20180510191447/http://www.nj.com/inside-jersey/index.ssf/2018/03/take_5_sheena_iyengar_author_and_expert_on_choice.html">"Take 5: Sheena Iyengar, author and expert on choice"</a>. Archived from <a rel="nofollow" class="external text" href="http://www.nj.com/inside-jersey/index.ssf/2018/03/take_5_sheena_iyengar_author_and_expert_on_choice.html">the original</a> on 2018-05-10<span class="reference-accessdate">. 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dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q847057" class="extiw" title="d:Q847057">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/H35.5">H35.5</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=362.74">362.74</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/268000">268000</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D012174">D012174</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb11429.htm">11429</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001029.htm">001029</a></li><li><b><a href="/wiki/Patient_UK" title="Patient UK">Patient UK</a></b>: <a rel="nofollow" class="external text" href="https://patient.info/doctor/retinitis-pigmentosa">Retinitis pigmentosa</a></li><li><b><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1417/">Retinitis Pigmentosa Overview</a></li></ul></div></div></td></tr></tbody></table></div> <ul><li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1417/">GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview</a></li> <li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=retinitis+pigmentosa/">NCBI/Molecular diagnosis of retinitis pigmentosa</a></li></ul> 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structures">Adnexa</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Eyelid" title="Eyelid">Eyelid</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Inflammation" scope="row" class="navbox-group" style="width:1%">Inflammation</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Stye" title="Stye">Stye</a></li> <li><a href="/wiki/Chalazion" title="Chalazion">Chalazion</a></li> <li><a href="/wiki/Blepharitis" title="Blepharitis">Blepharitis</a></li> <li><a href="/wiki/Meibomian_gland_dysfunction" title="Meibomian gland dysfunction">Meibomian gland dysfunction</a></li></ul> </div></td></tr><tr><td colspan="2" class="navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Entropion" title="Entropion">Entropion</a></li> <li><a href="/wiki/Ectropion" title="Ectropion">Ectropion</a></li> <li><a href="/wiki/Lagophthalmos" title="Lagophthalmos">Lagophthalmos</a></li> <li><a href="/wiki/Blepharochalasis" title="Blepharochalasis">Blepharochalasis</a></li> <li><a href="/wiki/Ptosis_(eyelid)" title="Ptosis (eyelid)">Ptosis</a></li> <li><a href="/wiki/Blepharophimosis" title="Blepharophimosis">Blepharophimosis</a></li> <li><a href="/wiki/Xanthelasma" title="Xanthelasma">Xanthelasma</a></li> <li><a href="/wiki/Ankyloblepharon" title="Ankyloblepharon">Ankyloblepharon</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Eyelash" title="Eyelash">Eyelash</a></th><td 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title="Dacryocystitis">Dacryocystitis</a></li> <li><a href="/wiki/Xerophthalmia" title="Xerophthalmia">Xerophthalmia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Orbit_(anatomy)" title="Orbit (anatomy)">Orbit</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Exophthalmos" title="Exophthalmos">Exophthalmos</a></li> <li><a href="/wiki/Enophthalmos" title="Enophthalmos">Enophthalmos</a></li> <li><a href="/wiki/Orbital_cellulitis" title="Orbital cellulitis">Orbital cellulitis</a></li> <li><a href="/wiki/Orbital_lymphoma" title="Orbital lymphoma">Orbital lymphoma</a></li> <li><a href="/wiki/Periorbital_cellulitis" title="Periorbital cellulitis">Periorbital cellulitis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Conjunctiva" title="Conjunctiva">Conjunctiva</a></th><td 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mw-collapsible uncollapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="Globe" style="font-size:114%;margin:0 4em"><a href="/wiki/Globe_(human_eye)" title="Globe (human eye)">Globe</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Fibrous_tunic_of_eyeball" title="Fibrous tunic of eyeball">Fibrous tunic</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Sclera" title="Sclera">Sclera</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Scleritis" title="Scleritis">Scleritis</a></li> <li><a href="/wiki/Episcleritis" title="Episcleritis">Episcleritis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cornea" title="Cornea">Cornea</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Keratitis" title="Keratitis">Keratitis</a> <ul><li><a href="/wiki/Herpetic_keratitis" class="mw-redirect" title="Herpetic keratitis">herpetic</a></li> <li><a href="/wiki/Acanthamoeba_keratitis" title="Acanthamoeba keratitis">acanthamoebic</a></li> <li><a href="/wiki/Fungal_keratitis" title="Fungal keratitis">fungal</a></li> <li><a href="/wiki/Exposure_keratitis" class="mw-redirect" title="Exposure keratitis">Exposure</a></li> <li><a href="/wiki/Photokeratitis" title="Photokeratitis">Photokeratitis</a></li></ul></li> <li><a href="/wiki/Corneal_ulcer" title="Corneal ulcer">Corneal ulcer</a></li> <li><a href="/wiki/Thygeson%27s_superficial_punctate_keratopathy" title="Thygeson's superficial punctate keratopathy">Thygeson's superficial punctate keratopathy</a></li> <li><a href="/wiki/Corneal_dystrophy" title="Corneal dystrophy">Corneal dystrophy</a> <ul><li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs'</a></li> <li><a href="/wiki/Meesmann_corneal_dystrophy" title="Meesmann corneal dystrophy">Meesmann</a></li></ul></li> <li><a href="/wiki/Corneal_ectatic_disorders" title="Corneal ectatic disorders">Corneal ectasia</a> <ul><li><a href="/wiki/Keratoconus" title="Keratoconus">Keratoconus</a></li> <li><a href="/wiki/Pellucid_marginal_degeneration" title="Pellucid marginal degeneration">Pellucid marginal degeneration</a></li> <li><a href="/wiki/Keratoglobus" title="Keratoglobus">Keratoglobus</a></li> <li><a href="/wiki/Terrien%27s_marginal_degeneration" title="Terrien's marginal degeneration">Terrien's marginal degeneration</a></li> <li><a href="/wiki/Post-LASIK_ectasia" title="Post-LASIK ectasia">Post-LASIK ectasia</a></li></ul></li> <li><a href="/wiki/Keratoconjunctivitis" title="Keratoconjunctivitis">Keratoconjunctivitis</a> <ul><li><a href="/wiki/Keratoconjunctivitis_sicca" class="mw-redirect" title="Keratoconjunctivitis sicca">sicca</a></li></ul></li> <li><a href="/wiki/Corneal_opacity" title="Corneal opacity">Corneal opacity</a></li> <li><a href="/wiki/Corneal_neovascularization" title="Corneal neovascularization">Corneal neovascularization</a></li> <li><a href="/wiki/Kayser%E2%80%93Fleischer_ring" title="Kayser–Fleischer ring">Kayser–Fleischer ring</a></li> <li><a href="/wiki/Haab%27s_striae" title="Haab's striae">Haab's striae</a></li> <li><a href="/wiki/Arcus_senilis" title="Arcus senilis">Arcus senilis</a></li> <li><a href="/wiki/Band_keratopathy" title="Band keratopathy">Band keratopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Uvea" title="Uvea">Vascular tunic</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><div class="hlist"><ul><li><a href="/wiki/Iris_(anatomy)" title="Iris (anatomy)">Iris</a></li><li><a href="/wiki/Ciliary_body" title="Ciliary body">Ciliary body</a></li></ul></div></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Uveitis" title="Uveitis">Uveitis</a></li> <li><a href="/wiki/Intermediate_uveitis" title="Intermediate uveitis">Intermediate uveitis</a></li> <li><a href="/wiki/Hyphema" title="Hyphema">Hyphema</a></li> <li><a href="/wiki/Rubeosis_iridis" title="Rubeosis iridis">Rubeosis iridis</a></li> <li><a href="/wiki/Persistent_pupillary_membrane" title="Persistent pupillary membrane">Persistent pupillary membrane</a></li> <li><a href="/wiki/Iridodialysis" title="Iridodialysis">Iridodialysis</a></li> <li><a href="/wiki/Synechia_(eye)" title="Synechia (eye)">Synechia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Choroid" title="Choroid">Choroid</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Choroideremia" title="Choroideremia">Choroideremia</a></li> <li><a href="/wiki/Choroiditis" class="mw-redirect" title="Choroiditis">Choroiditis</a> <ul><li><a href="/wiki/Chorioretinitis" title="Chorioretinitis">Chorioretinitis</a></li></ul></li> <li><a href="/wiki/Focal_choroidal_excavation" title="Focal choroidal excavation">Focal choroidal excavation</a></li> <li><a href="/wiki/Polypoidal_choroidal_vasculopathy" title="Polypoidal choroidal vasculopathy">Polypoidal choroidal vasculopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lens_(anatomy)" class="mw-redirect" title="Lens (anatomy)">Lens</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cataract" title="Cataract">Cataract</a> <ul><li><a href="/wiki/Congenital_cataract" title="Congenital cataract">Congenital cataract</a></li> <li><a href="/wiki/Childhood_cataract" title="Childhood cataract">Childhood cataract</a></li></ul></li> <li><a href="/wiki/Aphakia" title="Aphakia">Aphakia</a></li> <li><a href="/wiki/Ectopia_lentis" title="Ectopia lentis">Ectopia lentis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Retinal_disease" class="mw-redirect" title="Retinal disease">Retina</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Retinitis" title="Retinitis">Retinitis</a> <ul><li><a href="/wiki/Chorioretinitis" title="Chorioretinitis">Chorioretinitis</a></li> <li><a href="/wiki/Cytomegalovirus_retinitis" title="Cytomegalovirus retinitis">Cytomegalovirus retinitis</a></li></ul></li> <li><a href="/wiki/Retinal_detachment" title="Retinal detachment">Retinal detachment</a> <ul><li><a href="/wiki/Posterior_vitreous_detachment" title="Posterior vitreous detachment">Posterior vitreous detachment</a></li></ul></li> <li><a href="/wiki/Retinoschisis" title="Retinoschisis">Retinoschisis</a></li> <li><a href="/wiki/Ocular_ischemic_syndrome" title="Ocular ischemic syndrome">Ocular ischemic syndrome</a> / <a href="/wiki/Central_retinal_vein_occlusion" title="Central retinal vein occlusion">Central retinal vein occlusion</a></li> <li><a href="/wiki/Central_retinal_artery_occlusion" title="Central retinal artery occlusion">Central retinal artery occlusion</a></li> <li><a href="/wiki/Branch_retinal_artery_occlusion" title="Branch retinal artery occlusion">Branch retinal artery occlusion</a></li> <li><a href="/wiki/Retinopathy" title="Retinopathy">Retinopathy</a> <ul><li><a href="/wiki/Diabetic_retinopathy" title="Diabetic retinopathy">diabetic</a></li> <li><a href="/wiki/Hypertensive_retinopathy" title="Hypertensive retinopathy">hypertensive</a></li> <li><a href="/wiki/Purtscher%27s_retinopathy" title="Purtscher's retinopathy">Purtscher's</a></li> <li><a href="/wiki/Retinopathy_of_prematurity" title="Retinopathy of prematurity">of prematurity</a></li> <li><a href="/wiki/Bietti%27s_crystalline_dystrophy" title="Bietti's crystalline dystrophy">Bietti's crystalline dystrophy</a></li> <li><a href="/wiki/Coats%27_disease" title="Coats' disease">Coats' disease</a></li> <li><a href="/wiki/Sickle_cell_retinopathy" title="Sickle cell retinopathy">Sickle cell</a></li> <li><a href="/wiki/Photic_retinopathy" title="Photic retinopathy">photic</a></li></ul></li> <li><a href="/wiki/Macular_degeneration" title="Macular degeneration">Macular degeneration</a></li> <li><a class="mw-selflink selflink">Retinitis pigmentosa</a></li> <li><a href="/wiki/Retinal_haemorrhage" title="Retinal haemorrhage">Retinal haemorrhage</a></li> <li><a href="/wiki/Central_serous_retinopathy" class="mw-redirect" title="Central serous retinopathy">Central serous retinopathy</a></li> <li><a href="/wiki/Macular_edema" title="Macular edema">Macular edema</a></li> <li><a href="/wiki/Epiretinal_membrane" title="Epiretinal membrane">Epiretinal membrane</a> (Macular pucker)</li> <li><a href="/wiki/Vitelliform_macular_dystrophy" title="Vitelliform macular dystrophy">Vitelliform macular dystrophy</a></li> <li><a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis</a></li> <li><a href="/wiki/Birdshot_chorioretinopathy" title="Birdshot chorioretinopathy">Birdshot chorioretinopathy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Glaucoma" title="Glaucoma">Glaucoma</a> / <a href="/wiki/Ocular_hypertension" title="Ocular hypertension">Ocular hypertension</a> / <a href="/wiki/Primary_juvenile_glaucoma" title="Primary juvenile glaucoma">Primary juvenile glaucoma</a></li> <li><a href="/wiki/Floater" title="Floater">Floater</a></li> <li><a href="/wiki/Leber%27s_hereditary_optic_neuropathy" title="Leber's hereditary optic neuropathy">Leber's hereditary optic neuropathy</a></li> <li><a href="/wiki/Ocular_hypotony" title="Ocular hypotony">Ocular hypotony</a></li> <li><a href="/wiki/Red_eye_(medicine)" title="Red eye (medicine)">Red eye</a></li> <li><a href="/wiki/Globe_rupture" title="Globe rupture">Globe rupture</a></li> <li><a href="/wiki/Fungal_keratitis" title="Fungal keratitis">Keratomycosis</a></li> <li><a href="/wiki/Phthisis_bulbi" title="Phthisis bulbi">Phthisis bulbi</a></li> <li><a href="/wiki/Persistent_fetal_vasculature" title="Persistent fetal vasculature">Persistent fetal vasculature</a></li> <li><a href="/wiki/Persistent_tunica_vasculosa_lentis" title="Persistent tunica vasculosa lentis">Persistent tunica vasculosa lentis</a></li> <li><a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy</a></li> <li><a href="/wiki/Vogt-Koyanagi-Harada_disease" class="mw-redirect" title="Vogt-Koyanagi-Harada disease">Vogt-Koyanagi-Harada disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="Pathways" style="font-size:114%;margin:0 4em"><a href="/wiki/Visual_system" title="Visual system">Pathways</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Optic_nerve" title="Optic nerve">Optic nerve</a><br /><a href="/wiki/Optic_disc" title="Optic disc">Optic disc</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Optic_neuritis" title="Optic neuritis">Optic neuritis</a> <ul><li><a href="/wiki/Optic_papillitis" title="Optic papillitis">optic papillitis</a></li></ul></li> <li><a href="/wiki/Papilledema" title="Papilledema">Papilledema</a> <ul><li><a href="/wiki/Foster_Kennedy_syndrome" title="Foster Kennedy syndrome">Foster Kennedy syndrome</a></li></ul></li> <li><a href="/wiki/Optic_atrophy" class="mw-redirect" title="Optic atrophy">Optic atrophy</a></li> <li><a href="/wiki/Optic_disc_drusen" title="Optic disc drusen">Optic disc drusen</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Optic_neuropathy" title="Optic neuropathy">Optic neuropathy</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ischemic_optic_neuropathy" title="Ischemic optic neuropathy">Ischemic</a> <ul><li><a href="/wiki/Anterior_ischemic_optic_neuropathy" title="Anterior ischemic optic neuropathy">anterior (AION)</a></li> <li><a href="/wiki/Posterior_ischemic_optic_neuropathy" title="Posterior ischemic optic neuropathy">posterior (PION)</a></li> <li><a href="/wiki/Arteritic_anterior_ischemic_optic_neuropathy" title="Arteritic anterior ischemic optic neuropathy">arteritic anterior (AAION or arteritic AION)</a></li> <li><a href="/wiki/Non-arteritic_anterior_ischemic_optic_neuropathy" title="Non-arteritic anterior ischemic optic neuropathy">non-arteritic anterior (NAION)</a></li></ul></li> <li><a href="/wiki/Kjer%27s_optic_neuropathy" title="Kjer's optic neuropathy">Kjer's</a></li> <li><a href="/wiki/Leber%27s_hereditary_optic_neuropathy" title="Leber's hereditary optic neuropathy">Leber's hereditary</a></li> <li><a href="/wiki/Toxic_and_nutritional_optic_neuropathy" title="Toxic and nutritional optic neuropathy">Toxic and nutritional</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Strabismus" title="Strabismus">Strabismus</a><br /><a href="/wiki/Extraocular_muscles" title="Extraocular muscles">Extraocular muscles</a><br /><a href="/wiki/Binocular_vision" title="Binocular vision">Binocular vision</a><br /><a href="/wiki/Accommodation_(eye)" class="mw-redirect" title="Accommodation (eye)">Accommodation</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Paralytic_strabismus" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Strabismus#Paralytic_strabismus" title="Strabismus">Paralytic strabismus</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ophthalmoparesis" title="Ophthalmoparesis">Ophthalmoparesis</a></li> <li><a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">Chronic progressive external ophthalmoplegia</a></li> <li><a href="/wiki/Kearns%E2%80%93Sayre_syndrome" title="Kearns–Sayre syndrome">Kearns–Sayre syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cranial_nerve_disease" title="Cranial nerve disease">palsies</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Oculomotor_nerve_palsy" title="Oculomotor nerve palsy">Oculomotor (III)</a></li> <li><a href="/wiki/Fourth_nerve_palsy" title="Fourth nerve palsy">Fourth-nerve (IV)</a></li> <li><a href="/wiki/Sixth_nerve_palsy" title="Sixth nerve palsy">Sixth-nerve (VI)</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Strabismus#Other_strabismus" title="Strabismus">Other strabismus</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Esotropia" title="Esotropia">Esotropia</a> / <a href="/wiki/Exotropia" title="Exotropia">Exotropia</a></li> <li><a href="/wiki/Hypertropia" title="Hypertropia">Hypertropia</a></li> <li><a href="/wiki/Heterophoria" title="Heterophoria">Heterophoria</a> <ul><li><a href="/wiki/Esophoria" title="Esophoria">Esophoria</a></li> <li><a href="/wiki/Exophoria" title="Exophoria">Exophoria</a></li></ul></li> <li><a href="/wiki/Cyclotropia" title="Cyclotropia">Cyclotropia</a></li> <li><a href="/wiki/Brown%27s_syndrome" title="Brown's syndrome">Brown's syndrome</a></li> <li><a href="/wiki/Duane_syndrome" title="Duane syndrome">Duane syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other binocular</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Conjugate_gaze_palsy" title="Conjugate gaze palsy">Conjugate gaze palsy</a></li> <li><a href="/wiki/Convergence_insufficiency" title="Convergence insufficiency">Convergence insufficiency</a></li> <li><a href="/wiki/Internuclear_ophthalmoplegia" title="Internuclear ophthalmoplegia">Internuclear ophthalmoplegia</a></li> <li><a href="/wiki/One_and_a_half_syndrome" title="One and a half syndrome">One and a half syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Refraction" title="Refraction">Refraction</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Refractive_error" title="Refractive error">Refractive error</a> <ul><li><a href="/wiki/Far-sightedness" class="mw-redirect" title="Far-sightedness">Hyperopia</a></li> <li><a href="/wiki/Near-sightedness" class="mw-redirect" title="Near-sightedness">Myopia</a></li></ul></li> <li><a href="/wiki/Astigmatism" title="Astigmatism">Astigmatism</a></li> <li><a href="/wiki/Anisometropia" title="Anisometropia">Anisometropia</a> / <a href="/wiki/Aniseikonia" title="Aniseikonia">Aniseikonia</a></li> <li><a href="/wiki/Presbyopia" title="Presbyopia">Presbyopia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Vision_disorder" title="Vision disorder">Vision disorders</a><br /><a href="/wiki/Blindness" class="mw-redirect" title="Blindness">Blindness</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><td colspan="2" class="navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Amblyopia" title="Amblyopia">Amblyopia</a></li> <li><a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis</a></li> <li><a href="/wiki/Diplopia" title="Diplopia">Diplopia</a></li> <li><a href="/wiki/Scotoma" title="Scotoma">Scotoma</a></li> <li><a href="/wiki/Color_blindness" title="Color blindness">Color blindness</a> <ul><li><a href="/wiki/Achromatopsia" title="Achromatopsia">Achromatopsia</a></li> <li><a href="/wiki/Dichromacy" title="Dichromacy">Dichromacy</a></li> <li><a href="/wiki/Monochromacy" title="Monochromacy">Monochromacy</a></li></ul></li> <li><a href="/wiki/Nyctalopia" title="Nyctalopia">Nyctalopia</a> <ul><li><a href="/wiki/Oguchi_disease" title="Oguchi disease">Oguchi disease</a></li></ul></li> <li><a href="/wiki/Blindness" class="mw-redirect" title="Blindness">Blindness</a> / <a href="/wiki/Vision_loss" class="mw-redirect" title="Vision loss">Vision loss</a> / <a href="/wiki/Visual_impairment" title="Visual impairment">Visual impairment</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Anopsia" title="Anopsia">Anopsia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hemianopsia" title="Hemianopsia">Hemianopsia</a> <ul><li><a href="/wiki/Binasal_hemianopsia" title="Binasal hemianopsia">binasal</a></li> <li><a href="/wiki/Bitemporal_hemianopsia" title="Bitemporal hemianopsia">bitemporal</a></li> <li><a href="/wiki/Homonymous_hemianopsia" title="Homonymous hemianopsia">homonymous</a></li></ul></li> <li><a href="/wiki/Quadrantanopia" title="Quadrantanopia">Quadrantanopia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">subjective</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Asthenopia" class="mw-redirect" title="Asthenopia">Asthenopia</a></li> <li><a href="/wiki/Hemeralopia" title="Hemeralopia">Hemeralopia</a></li> <li><a href="/wiki/Photophobia" title="Photophobia">Photophobia</a></li> <li><a href="/wiki/Scintillating_scotoma" title="Scintillating scotoma">Scintillating scotoma</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Pupil" title="Pupil">Pupil</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Anisocoria" title="Anisocoria">Anisocoria</a></li> <li><a href="/wiki/Argyll_Robertson_pupil" title="Argyll Robertson pupil">Argyll Robertson pupil</a></li> <li><a href="/wiki/Marcus_Gunn_pupil" class="mw-redirect" title="Marcus Gunn pupil">Marcus Gunn pupil</a></li> <li><a href="/wiki/Adie_syndrome" title="Adie syndrome">Adie syndrome</a></li> <li><a href="/wiki/Miosis" title="Miosis">Miosis</a></li> <li><a href="/wiki/Mydriasis" title="Mydriasis">Mydriasis</a></li> <li><a href="/wiki/Cycloplegia" title="Cycloplegia">Cycloplegia</a></li> <li><a href="/wiki/Parinaud%27s_syndrome" title="Parinaud's syndrome">Parinaud's syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Nystagmus" title="Nystagmus">Nystagmus</a></li> <li><a href="/wiki/Childhood_blindness" title="Childhood blindness">Childhood blindness</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="Infections" style="font-size:114%;margin:0 4em"><a href="/wiki/Eye_disease" title="Eye disease">Infections</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Trachoma" title="Trachoma">Trachoma</a></li> <li><a href="/wiki/Onchocerciasis" title="Onchocerciasis">Onchocerciasis</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorder,_membrane:_ABC_transporter_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:ABC_transporter_disorders" title="Template:ABC transporter disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:ABC_transporter_disorders" title="Template talk:ABC transporter disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:ABC_transporter_disorders" title="Special:EditPage/Template:ABC transporter disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorder,_membrane:_ABC_transporter_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Genetic_disorder" title="Genetic disorder">Genetic disorder</a>, membrane: <a href="/wiki/ABC_transporter" title="ABC transporter">ABC transporter</a> disorders</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCA</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCA1" title="ABCA1">ABCA1</a></i> (<a href="/wiki/Tangier_disease" title="Tangier disease">Tangier disease</a>)</li> <li><i><a href="/wiki/ABCA3" title="ABCA3">ABCA3</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 3</a>)</li> <li><i><a href="/wiki/ABCA4" title="ABCA4">ABCA4</a></i> (<a href="/wiki/Stargardt_disease" title="Stargardt disease">Stargardt disease 1</a>, <a class="mw-selflink selflink">Retinitis pigmentosa 19</a>)</li> <li><i><a href="/wiki/ABCA12" title="ABCA12">ABCA12</a></i> (<a href="/wiki/Harlequin-type_ichthyosis" title="Harlequin-type ichthyosis">Harlequin-type ichthyosis</a>, <a href="/wiki/Lamellar_ichthyosis" title="Lamellar ichthyosis">Lamellar ichthyosis 2</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCB</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCB4" title="ABCB4">ABCB4</a></i> (<a href="/wiki/Progressive_familial_intrahepatic_cholestasis" title="Progressive familial intrahepatic cholestasis">Progressive familial intrahepatic cholestasis 3</a>)</li> <li><i><a href="/wiki/ABCB7" title="ABCB7">ABCB7</a></i> (<a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">ASAT</a>)</li> <li><i><a href="/wiki/ABCB11" title="ABCB11">ABCB11</a></i> (<a href="/wiki/Progressive_familial_intrahepatic_cholestasis" title="Progressive familial intrahepatic cholestasis">Progressive familial intrahepatic cholestasis 2</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCC</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCC2" class="mw-redirect" title="ABCC2">ABCC2</a></i> (<a href="/wiki/Dubin%E2%80%93Johnson_syndrome" title="Dubin–Johnson syndrome">Dubin–Johnson syndrome</a>)</li> <li><i><a href="/wiki/ABCC6" title="ABCC6">ABCC6</a></i> (<a href="/wiki/Pseudoxanthoma_elasticum" title="Pseudoxanthoma elasticum">Pseudoxanthoma elasticum</a>)</li> <li><i><a href="/wiki/ABCC7" class="mw-redirect" title="ABCC7">ABCC7</a></i> (<a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">Cystic fibrosis</a>)</li> <li><i><a href="/wiki/ABCC8" title="ABCC8">ABCC8</a></i> (<a href="/wiki/Hyperinsulinemic_hypoglycemia" title="Hyperinsulinemic hypoglycemia">HHF1</a>, <a href="/wiki/Transient_neonatal_diabetes_mellitus" class="mw-redirect" title="Transient neonatal diabetes mellitus">TNDM2</a>)</li> <li><i><a href="/wiki/ABCC9" title="ABCC9">ABCC9</a></i> (<a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1O</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCD</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCD1" title="ABCD1">ABCD1</a></i> (<a href="/wiki/Adrenoleukodystrophy" title="Adrenoleukodystrophy">Adrenoleukodystrophy</a>, <a href="/wiki/Adrenomyeloneuropathy" class="mw-redirect" title="Adrenomyeloneuropathy">Adrenomyeloneuropathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCG</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCG5" title="ABCG5">ABCG5</a></i> (<a href="/wiki/Sitosterolemia" title="Sitosterolemia">Sitosterolemia</a>)</li> <li><i><a href="/wiki/ABCG8" title="ABCG8">ABCG8</a></i> (<a href="/wiki/Gallbladder_disease" title="Gallbladder disease">Gallbladder disease</a> 4, <a href="/wiki/Sitosterolemia" title="Sitosterolemia">Sitosterolemia</a>)</li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>see also <a href="/wiki/Template:ABC_transporters" title="Template:ABC transporters">ABC transporters</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Disorders_of_translation_and_posttranslational_modification" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Disorders_of_translation_and_posttranslational_modification" title="Template:Disorders of translation and posttranslational modification"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Disorders_of_translation_and_posttranslational_modification" title="Template talk:Disorders of translation and posttranslational modification"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Disorders_of_translation_and_posttranslational_modification" title="Special:EditPage/Template:Disorders of translation and posttranslational modification"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Disorders_of_translation_and_posttranslational_modification" style="font-size:114%;margin:0 4em">Disorders of <a href="/wiki/Eukaryotic_translation" title="Eukaryotic translation">translation</a> and <a href="/wiki/Posttranslational_modification" class="mw-redirect" title="Posttranslational modification">posttranslational modification</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Translation</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ribosome" title="Ribosome">Ribosome</a>: <a href="/wiki/Diamond%E2%80%93Blackfan_anemia" title="Diamond–Blackfan anemia">Diamond–Blackfan anemia</a></li> <li><i><a href="/wiki/FMR1" title="FMR1">FMR1</a></i> <ul><li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/Fragile_X-associated_tremor/ataxia_syndrome" title="Fragile X-associated tremor/ataxia syndrome">Fragile X-associated tremor/ataxia syndrome</a></li> <li><a href="/wiki/Premature_ovarian_failure" class="mw-redirect" title="Premature ovarian failure">Premature ovarian failure 1</a></li></ul></li></ul> <ul><li><a href="/wiki/Initiation_factor" title="Initiation factor">Initiation factor</a>: <a href="/wiki/Leukoencephalopathy_with_vanishing_white_matter" title="Leukoencephalopathy with vanishing white matter">Leukoencephalopathy with vanishing white matter</a></li></ul> <ul><li><a href="/wiki/SnRNP" title="SnRNP">snRNP</a>: <a class="mw-selflink selflink">Retinitis pigmentosa 33</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Posttranslational modification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Protein_folding" title="Protein folding">Protein folding</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alzheimer%27s_disease" title="Alzheimer's disease">Alzheimer's disease</a></li> <li><a href="/wiki/Huntington%27s_disease" title="Huntington's disease">Huntington's disease</a></li> <li><a href="/wiki/Creutzfeldt%E2%80%93Jakob_disease" title="Creutzfeldt–Jakob disease">Creutzfeldt–Jakob disease</a></li></ul> <ul><li>chaperonins: <a href="/wiki/3-Methylglutaconic_aciduria" title="3-Methylglutaconic aciduria">3-Methylglutaconic aciduria 5</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Protein_targeting" title="Protein targeting">Protein targeting</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/I-cell_disease" title="I-cell disease">I-cell disease</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Ubiquitin" title="Ubiquitin">Ubiquitin</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ubiquitin-activating_enzyme" title="Ubiquitin-activating enzyme">E1</a>: <a href="/wiki/X-linked_spinal_muscular_atrophy_2" class="mw-redirect" title="X-linked spinal muscular atrophy 2">X-linked spinal muscular atrophy 2</a></li></ul> <ul><li><a href="/wiki/Ubiquitin_ligase" title="Ubiquitin ligase">E3</a>: <a href="/wiki/Johanson%E2%80%93Blizzard_syndrome" title="Johanson–Blizzard syndrome">Johanson–Blizzard syndrome</a></li> <li><a href="/wiki/Von_Hippel%E2%80%93Lindau_disease" title="Von Hippel–Lindau disease">Von Hippel–Lindau disease</a></li> <li><a href="/wiki/3-M_syndrome" title="3-M syndrome">3-M syndrome</a></li> <li><a href="/wiki/Angelman_syndrome" title="Angelman syndrome">Angelman syndrome</a></li></ul> <ul><li><a href="/wiki/Deubiquitinating_enzyme" title="Deubiquitinating enzyme">Deubiquitinating enzyme</a>: <a href="/wiki/Machado%E2%80%93Joseph_disease" title="Machado–Joseph disease">Machado–Joseph disease</a></li> <li><a href="/wiki/Aneurysmal_bone_cyst" title="Aneurysmal bone cyst">Aneurysmal bone cyst</a></li> <li><a href="/wiki/Multiple_familial_trichoepithelioma" class="mw-redirect" title="Multiple familial trichoepithelioma">Multiple familial trichoepithelioma 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Small_ubiquitin-related_modifier_1" class="mw-redirect" title="Small ubiquitin-related modifier 1">SUMO</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cleft_lip_and_palate" class="mw-redirect" title="Cleft lip and palate">OFC10</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Multiple_sulfatase_deficiency" title="Multiple sulfatase deficiency">Multiple sulfatase deficiency</a></li> <li><a href="/wiki/Hyperproinsulinemia" title="Hyperproinsulinemia">Hyperproinsulinemia</a></li> <li><a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndrome 6</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" 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