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Leber congenital amaurosis - Wikipedia

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<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">9</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Notes" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Notes"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>Notes</span> </div> </a> <ul id="toc-Notes-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> <button 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Available in 15 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-15" 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">15 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/%D9%83%D9%85%D9%86%D8%A9_%D9%84%D9%8A%D8%A8%D8%B1_%D8%A7%D9%84%D8%AE%D9%84%D9%82%D9%8A%D8%A9" title="كمنة ليبر الخلقية – Arabic" lang="ar" hreflang="ar" data-title="كمنة ليبر الخلقية" 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/Leberova_kongenitalna_amauroza" title="Leberova kongenitalna amauroza – Bosnian" lang="bs" hreflang="bs" data-title="Leberova kongenitalna amauroza" 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/Amaurosi_cong%C3%A8nita_de_Leber" title="Amaurosi congènita de Leber – Catalan" lang="ca" hreflang="ca" data-title="Amaurosi congènita de Leber" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Lebersche_Kongenitale_Amaurose" title="Lebersche Kongenitale Amaurose – German" lang="de" hreflang="de" data-title="Lebersche Kongenitale Amaurose" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-et mw-list-item"><a href="https://et.wikipedia.org/wiki/Leberi_t%C3%BC%C3%BCpi_p%C3%A4rilik_amauroos" title="Leberi tüüpi pärilik amauroos – Estonian" lang="et" hreflang="et" data-title="Leberi tüüpi pärilik amauroos" data-language-autonym="Eesti" data-language-local-name="Estonian" class="interlanguage-link-target"><span>Eesti</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Amaurosis_cong%C3%A9nita_de_Leber" title="Amaurosis congénita de Leber – Spanish" lang="es" hreflang="es" data-title="Amaurosis congénita de Leber" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%84%D8%A8%D8%B1_%D8%A2%D9%85%D9%88%D8%B1%D9%88%D8%B2%DB%8C%D8%B3_%D9%85%D8%A7%D8%AF%D8%B1%D8%B2%D8%A7%D8%AF%DB%8C" title="لبر آموروزیس مادرزادی – Persian" lang="fa" hreflang="fa" data-title="لبر آموروزیس مادرزادی" 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/Amaurose_cong%C3%A9nitale_de_Leber" title="Amaurose congénitale de Leber – French" lang="fr" hreflang="fr" data-title="Amaurose congénitale de Leber" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Amaurosi_congenita_di_Leber" title="Amaurosi congenita di Leber – Italian" lang="it" hreflang="it" data-title="Amaurosi congenita di Leber" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Leber-f%C3%A9le_velesz%C3%BCletett_vaks%C3%A1g" title="Leber-féle veleszületett vakság – Hungarian" lang="hu" hreflang="hu" data-title="Leber-féle veleszületett vakság" data-language-autonym="Magyar" data-language-local-name="Hungarian" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Wrodzona_%C5%9Blepota_Lebera" title="Wrodzona ślepota Lebera – Polish" lang="pl" hreflang="pl" data-title="Wrodzona ślepota Lebera" 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/Amaurose_Cong%C3%AAnita_de_Leber" title="Amaurose Congênita de Leber – Portuguese" lang="pt" hreflang="pt" data-title="Amaurose Congênita de Leber" 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%90%D0%BC%D0%B0%D0%B2%D1%80%D0%BE%D0%B7_%D0%9B%D0%B5%D0%B1%D0%B5%D1%80%D0%B0" title="Амавроз Лебера – Russian" lang="ru" hreflang="ru" data-title="Амавроз Лебера" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Leberin_synnynn%C3%A4inen_amauroosi" title="Leberin synnynnäinen amauroosi – Finnish" lang="fi" hreflang="fi" data-title="Leberin synnynnäinen amauroosi" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-tt mw-list-item"><a href="https://tt.wikipedia.org/wiki/%D0%A2%D1%83%D0%BC%D1%8B%D1%88%D1%82%D0%B0%D0%B3%D1%8B_%D0%9B%D0%B5%D0%B1%D0%B5%D1%80_%D0%B0%D0%BC%D0%B0%D0%B2%D1%80%D0%BE%D0%B7%D1%8B" title="Тумыштагы Лебер амаврозы – Tatar" lang="tt" hreflang="tt" data-title="Тумыштагы Лебер амаврозы" data-language-autonym="Татарча / tatarça" data-language-local-name="Tatar" class="interlanguage-link-target"><span>Татарча / tatarça</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q1811132#sitelinks-wikipedia" title="Edit interlanguage links" class="wbc-editpage">Edit links</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav 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href="/w/index.php?title=Leber%27s_congenital_amaurosis&amp;redirect=no" class="mw-redirect" title="Leber&#039;s congenital amaurosis">Leber&#039;s congenital amaurosis</a>)</span></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">Rare inherited eye disease</div> <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">Leber congenital amaurosis</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Leber's congenital amaurosis</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>&#160;<span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1811132?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></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">Visual impairment, sensitivity to light<sup id="cite_ref-GHR2010_1-0" class="reference"><a href="#cite_note-GHR2010-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Types</th><td class="infobox-data">&gt; 12 types<sup id="cite_ref-GHR2010_1-1" class="reference"><a href="#cite_note-GHR2010-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</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> (<a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a>)<sup id="cite_ref-GHR2010_1-2" class="reference"><a href="#cite_note-GHR2010-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">1 in 40,000 newborns<sup id="cite_ref-GHR2010_1-3" class="reference"><a href="#cite_note-GHR2010-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup></td></tr></tbody></table> <p><b>Leber congenital amaurosis</b> (<b>LCA</b>) is a rare <a href="/wiki/Heredity" title="Heredity">inherited</a> <a href="/wiki/Eye_disease" title="Eye disease">eye disease</a> that appears at <a href="/wiki/Congenital" class="mw-redirect" title="Congenital">birth</a> or in the first few months of life.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">&#91;</span>2<span class="cite-bracket">&#93;</span></a></sup> </p><p>It affects about 1 in 40,000 newborns.<sup id="cite_ref-GHR2010_1-4" class="reference"><a href="#cite_note-GHR2010-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup> LCA was first described by <a href="/wiki/Theodor_Leber" title="Theodor Leber">Theodor Leber</a> in the 19th century.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">&#91;</span>4<span class="cite-bracket">&#93;</span></a></sup> It should not be confused with <a href="/wiki/Leber%27s_hereditary_optic_neuropathy" title="Leber&#39;s hereditary optic neuropathy">Leber's hereditary optic neuropathy</a>, which is a different disease also described by Theodor Leber. </p><p>One form of LCA was <a href="/wiki/Adeno_associated_virus_and_gene_therapy_of_the_human_retina" class="mw-redirect" title="Adeno associated virus and gene therapy of the human retina">successfully treated</a> with <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> in 2008.<sup id="cite_ref-Maguire,_2008_5-0" class="reference"><a href="#cite_note-Maguire,_2008-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Simonelli,_2010_6-0" class="reference"><a href="#cite_note-Simonelli,_2010-6"><span class="cite-bracket">&#91;</span>6<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Cideciyan,_2009_7-0" class="reference"><a href="#cite_note-Cideciyan,_2009-7"><span class="cite-bracket">&#91;</span>7<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Bainbridge,_2008_8-0" class="reference"><a href="#cite_note-Bainbridge,_2008-8"><span class="cite-bracket">&#91;</span>8<span class="cite-bracket">&#93;</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=Leber_congenital_amaurosis&amp;action=edit&amp;section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>LCA symptoms typically begin in the first few months of life, most commonly with involuntary twitching of the eye (<a href="/wiki/Nystagmus" title="Nystagmus">nystagmus</a>). Affected infants may show misaligned eyes when looking at something (<a href="/wiki/Strabismus" title="Strabismus">strabismus</a>), aversion to light (<a href="/wiki/Photophobia" title="Photophobia">photophobia</a>), and poke or rub at their eyes (Franceschetti’s oculodigital sign).<sup id="cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Introduction&quot;_9-0" class="reference"><a href="#cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Introduction&quot;-9"><span class="cite-bracket">&#91;</span>9<span class="cite-bracket">&#93;</span></a></sup> Those with LCA invariably experience vision problems. Affected infants show decreased visual response to objects. Loss of <a href="/wiki/Visual_acuity" title="Visual acuity">visual acuity</a> is severe, with affected individuals' vision ranging from 20/200 to 20/400.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">&#91;</span>note 1<span class="cite-bracket">&#93;</span></a></sup> Around a third of those affected completely lose perception of light.<sup id="cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Diagnosing_LCA&quot;_11-0" class="reference"><a href="#cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Diagnosing_LCA&quot;-11"><span class="cite-bracket">&#91;</span>10<span class="cite-bracket">&#93;</span></a></sup> </p><p>At an eye exam, the <a href="/wiki/Pupil" title="Pupil">pupils</a> may not respond normally to light. Some affected individuals have cloudy eyes (<a href="/wiki/Cataracts" class="mw-redirect" title="Cataracts">cataracts</a>), and irregularly shaped <a href="/wiki/Cornea" title="Cornea">corneas</a> (<a href="/wiki/Keratoconus" title="Keratoconus">keratoconus</a>).<sup id="cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Introduction&quot;_9-1" class="reference"><a href="#cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Introduction&quot;-9"><span class="cite-bracket">&#91;</span>9<span class="cite-bracket">&#93;</span></a></sup> <a href="/wiki/Retinal_exam" class="mw-redirect" title="Retinal exam">Retinal exams</a> typically look normal, especially in the young, though retinal abnormalities can appear later in life.<sup id="cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Diagnosing_LCA&quot;_11-1" class="reference"><a href="#cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Diagnosing_LCA&quot;-11"><span class="cite-bracket">&#91;</span>10<span class="cite-bracket">&#93;</span></a></sup> </p><p>Aside from eye problems, children with LCA are typically healthy.<sup id="cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Etiology_of_LCA&quot;_12-0" class="reference"><a href="#cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Etiology_of_LCA&quot;-12"><span class="cite-bracket">&#91;</span>11<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Cause">Cause</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Leber_congenital_amaurosis&amp;action=edit&amp;section=2" title="Edit section: Cause"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>LCA is a genetic disease and can be caused by pathogenic variants in at least 28 different genes.<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;_13-0" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;-13"><span class="cite-bracket">&#91;</span>12<span class="cite-bracket">&#93;</span></a></sup> Variants in three of these genes – <i><a href="/wiki/IMPDH1" title="IMPDH1">IMPDH1</a></i>, <i><a href="/wiki/OTX2" class="mw-redirect" title="OTX2">OTX2</a></i>, and <i><a href="/wiki/CRX_(gene)" title="CRX (gene)">CRX</a></i> – can cause LCA in an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> manner, meaning inheriting a single copy of a pathogenic variant can result in disease. Variants in the remaining genes associated with LCA cause disease in an <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> manner, meaning one must inherit copies of the pathogenic variant from both parents to develop LCA.<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;_13-1" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;-13"><span class="cite-bracket">&#91;</span>12<span class="cite-bracket">&#93;</span></a></sup> Genes associated with LCA have a variety of roles in the development of the eye: </p> <ul><li><i>OTX2</i> is involved in the development of the retina;</li> <li><i><a href="/wiki/CRB1" title="CRB1">CRB1</a></i>, <i>CRX</i>, <i><a href="/wiki/GDF6" title="GDF6">GDF6</a></i>, and <i><a href="/wiki/PRPH2" class="mw-redirect" title="PRPH2">PRPH2</a></i> in the formation of retinal <a href="/wiki/Photoreceptor_cell" title="Photoreceptor cell">photoreceptor cells</a>;</li> <li><i><a href="/wiki/AIPL1" title="AIPL1">AIPL1</a></i> and <i><a href="/wiki/GUCY2D" title="GUCY2D">GUCY2D</a></i> in <a href="/wiki/Visual_phototransduction" title="Visual phototransduction">phototransduction</a> (converting light into electrical signals for the brain);</li> <li><i><a href="/wiki/ALMS1" title="ALMS1">ALMS1</a></i>, <i><a href="/wiki/CCT2_(gene)" title="CCT2 (gene)">CCT2</a></i>, <i><a href="/wiki/CEP290" title="CEP290">CEP290</a></i>, <i><a href="/wiki/CLUAP1" title="CLUAP1">CLUAP1</a></i>, <i><a href="/wiki/IFT140" title="IFT140">IFT140</a></i>, <i><a href="/wiki/IQCB1" title="IQCB1">IQCB1</a></i>, <i><a href="/wiki/LCA5" title="LCA5">LCA5</a></i>, <i><a href="/wiki/MYO7A" title="MYO7A">MYO7A</a></i>, <i><a href="/w/index.php?title=RD3_(gene)&amp;action=edit&amp;redlink=1" class="new" title="RD3 (gene) (page does not exist)">RD3</a></i>, <i><a href="/wiki/RPGRIP1" title="RPGRIP1">RPGRIP1</a></i>, <i><a href="/wiki/SPATA7" title="SPATA7">SPATA7</a></i>, and <i><a href="/wiki/TULP1" title="TULP1">TULP1</a></i> in maintaining the <a href="/wiki/Cilia" class="mw-redirect" title="Cilia">cilia</a> on photoreceptor cells;</li> <li><i><a href="/wiki/LRAT_(gene)" class="mw-redirect" title="LRAT (gene)">LRAT</a></i>, <i><a href="/wiki/RDH12" title="RDH12">RDH12</a></i>, and <i><a href="/wiki/RPE65" title="RPE65">RPE65</a></i> in replenishing <a href="/wiki/Retinal" title="Retinal">retinal</a> levels for the <a href="/wiki/Visual_cycle" title="Visual cycle">visual cycle</a>;</li> <li><i>IMPDH1</i> in <a href="/wiki/Guanine" title="Guanine">guanine</a> synthesis (involved in maintaining retinal levels);</li> <li><i><a href="/w/index.php?title=CABP4&amp;action=edit&amp;redlink=1" class="new" title="CABP4 (page does not exist)">CABP4</a></i>, <i><a href="/wiki/CNGA3" class="mw-redirect" title="CNGA3">CNGA3</a></i>, and <i><a href="/wiki/KCNJ13" title="KCNJ13">KCNJ13</a></i> in photoreceptor response to light.<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;_13-2" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;-13"><span class="cite-bracket">&#91;</span>12<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Table_1._Overview_of_causal_genes_implicated_in_Leber_congential_amaurosis&quot;_14-0" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Table_1._Overview_of_causal_genes_implicated_in_Leber_congential_amaurosis&quot;-14"><span class="cite-bracket">&#91;</span>13<span class="cite-bracket">&#93;</span></a></sup></li></ul> <p>Pathogenic variants of any of these genes cause dysfunction in those associated processes, which leads to severe vision loss. Variants in <i><a href="/w/index.php?title=DTHD1&amp;action=edit&amp;redlink=1" class="new" title="DTHD1 (page does not exist)">DTHD1</a></i> and <i><a href="/wiki/NMNAT1" title="NMNAT1">NMNAT1</a></i> also cause LCA, though these genes' roles in vision development are not yet known.<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Table_1._Overview_of_causal_genes_implicated_in_Leber_congential_amaurosis&quot;_14-1" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Table_1._Overview_of_causal_genes_implicated_in_Leber_congential_amaurosis&quot;-14"><span class="cite-bracket">&#91;</span>13<span class="cite-bracket">&#93;</span></a></sup> </p><p>Among the gene variants that cause LCA, <i>CEP290</i> and <i>GUCYD</i> variants are the most common, each causing up to 20% of LCA cases. Other common variants are in <i>CRB1</i> (around 10% of cases), <i>RPE65</i> (up to 10%), <i>AIPL1</i> (up to 8%), <i>RDH12</i> (up to 5%), and <i>RPGRIP1</i> (around 5%).<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Table_2._Commonly_affected_genes_in_LCA_and_their_associated_phenotypes.&quot;_15-0" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Table_2._Commonly_affected_genes_in_LCA_and_their_associated_phenotypes.&quot;-15"><span class="cite-bracket">&#91;</span>14<span class="cite-bracket">&#93;</span></a></sup> Around 25% of people with LCA do not have any of the known LCA-causing pathogenic gene variants; the cause of their LCA is unknown.<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;_13-3" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Genetic_basis_of_LCA&quot;-13"><span class="cite-bracket">&#91;</span>12<span class="cite-bracket">&#93;</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=Leber_congenital_amaurosis&amp;action=edit&amp;section=3" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>LCA is diagnosed clinically, by a combination of vision loss, an abnormal response of the pupils to light, and by abnormal response to <a href="/wiki/Electroretinography" title="Electroretinography">electroretinography</a>, a test that measures the electrical response of the retina to light.<sup id="cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Diagnosing_LCA&quot;_11-2" class="reference"><a href="#cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Diagnosing_LCA&quot;-11"><span class="cite-bracket">&#91;</span>10<span class="cite-bracket">&#93;</span></a></sup> </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=Leber_congenital_amaurosis&amp;action=edit&amp;section=4" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>One form of LCA, in patients with LCA2 bearing a mutation in the <a href="/wiki/RPE65" title="RPE65">RPE65</a> gene, has been successfully treated in <a href="/wiki/Clinical_trial" title="Clinical trial">clinical trials</a> using <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a>. The results of three early clinical trials were published in 2008 demonstrating the safety and efficacy of using <a href="/wiki/Adeno-associated_virus" title="Adeno-associated virus">adeno-associated virus</a> to deliver gene therapy to restore vision in LCA patients. In all three clinical trials, patients recovered functional vision without apparent side effects.<sup id="cite_ref-Maguire,_2008_5-1" class="reference"><a href="#cite_note-Maguire,_2008-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Simonelli,_2010_6-1" class="reference"><a href="#cite_note-Simonelli,_2010-6"><span class="cite-bracket">&#91;</span>6<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Cideciyan,_2009_7-1" class="reference"><a href="#cite_note-Cideciyan,_2009-7"><span class="cite-bracket">&#91;</span>7<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Bainbridge,_2008_8-1" class="reference"><a href="#cite_note-Bainbridge,_2008-8"><span class="cite-bracket">&#91;</span>8<span class="cite-bracket">&#93;</span></a></sup> These studies, which used <a href="/wiki/Adeno-associated_virus" title="Adeno-associated virus">adeno-associated virus</a>, have spawned a number of new studies investigating gene therapy for human retinal disease.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>&#93;</sup> On 19 December 2017, the U.S. Food and Drug Administration approved <a href="/wiki/Voretigene_neparvovec" title="Voretigene neparvovec">voretigene neparvovec</a>-rzyl (Luxturna), an <a href="/wiki/Adeno-associated_virus" title="Adeno-associated virus">adeno-associated virus</a> vector-based gene therapy for children and adults with biallelic RPE65 gene mutations responsible for retinal dystrophy, including Leber congenital amaurosis. Patients must have viable retinal cells as a prerequisite for the intraocular administration of Luxturna.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">&#91;</span>15<span class="cite-bracket">&#93;</span></a></sup> Another recent trial from The OHSU Casey Eye Institute used <a href="/wiki/CRISPR" title="CRISPR">CRISPR</a> to treat LCA starting in 2020. The experimental treatment consisted in editing a mutation of the <i>CEP290 gene</i>, which provides instructions to create a protein that is critical for sight. Results were released in 2023 with 79% of the patients showing improvement in at least one of four measured outcomes. <sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">&#91;</span>16<span class="cite-bracket">&#93;</span></a></sup> </p><p>For those who cannot benefit from gene therapy, LCA treatment is supportive, and meant to facilitate living with visual impairment. Some benefit from vision aids such as glasses, magnifiers, and enhancers. Other resources helpful for those with visual impairment include educational programs, special education teachers, and <a href="/wiki/Service_animal" title="Service animal">service animals</a>.<sup id="cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Treatment_of_LCA&quot;_18-0" class="reference"><a href="#cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Treatment_of_LCA&quot;-18"><span class="cite-bracket">&#91;</span>17<span class="cite-bracket">&#93;</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=Leber_congenital_amaurosis&amp;action=edit&amp;section=5" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Around 2–3 out of every 100,000 people have LCA – an estimated 180,000 people worldwide.<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Epidemiological,_historical_and_clinical_perspective_of_LCA&quot;_19-0" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Epidemiological,_historical_and_clinical_perspective_of_LCA&quot;-19"><span class="cite-bracket">&#91;</span>18<span class="cite-bracket">&#93;</span></a></sup> LCA is a common cause of blindness in the young; around 20% of children in schools for the blind have LCA.<sup id="cite_ref-AAPOS_20-0" class="reference"><a href="#cite_note-AAPOS-20"><span class="cite-bracket">&#91;</span>19<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Leber_congenital_amaurosis&amp;action=edit&amp;section=6" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>LCA was originally described as a variety of <a href="/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa">retinitis pigmentosa</a> by <a href="/wiki/Theodor_Leber" title="Theodor Leber">Theodor Leber</a> in 1869.<sup id="cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Epidemiological,_historical_and_clinical_perspective_of_LCA&quot;_19-1" class="reference"><a href="#cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Epidemiological,_historical_and_clinical_perspective_of_LCA&quot;-19"><span class="cite-bracket">&#91;</span>18<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Popular_culture">Popular culture</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Leber_congenital_amaurosis&amp;action=edit&amp;section=7" title="Edit section: Popular culture"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>In the episode "The Blackout in the Blizzard" (Season 6, Episode 16) of the television drama <i><a href="/wiki/Bones_(TV_series)" title="Bones (TV series)">Bones</a></i>, Dr. <a href="/wiki/Jack_Hodgins_(Bones)" title="Jack Hodgins (Bones)">Jack Hodgins</a> and his pregnant wife <a href="/wiki/Angela_Montenegro" class="mw-redirect" title="Angela Montenegro">Angela Montenegro</a>, who is an LCA carrier, have to wait during a citywide blackout for Hodgins's genetic test results, to see if he is also an LCA carrier. He does indeed turn out to be a carrier, giving their unborn child a 25% chance of having LCA.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>&#93;</sup></li> <li>In the television series <i><a href="/wiki/ER_(TV_series)" title="ER (TV series)">ER</a></i> (Season 14, Episode 12 "Believe the Unseen") Dr. <a href="/wiki/Abby_Lockhart" title="Abby Lockhart">Abby Lockhart</a> diagnoses a young foster girl with Leber congenital amaurosis. The girl to this point hid her condition from her foster families. The episode contains some information about symptoms, clinical diagnosis and mentions gene replacement therapy and clinical trials as hope for help in managing the condition.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>&#93;</sup></li> <li>In the <a href="/wiki/Korean_drama" title="Korean drama">Korean drama</a> <i><a href="/wiki/The_King_of_Dramas" title="The King of Dramas">The King of Dramas</a></i> (Episode 16, "In Search of Lost Time") Anthony Kim, played by <a href="/wiki/Kim_Myung-min" title="Kim Myung-min">Kim Myung-min</a>, is diagnosed with Leber congenital amaurosis, the same disease that made his mother blind.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>&#93;</sup></li> <li>Four-year-old Gavin who suffers from a form of LCA was made famous in 2013 by a YouTube video showing him using his white cane for the first time to navigate down a curb.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">&#91;</span>20<span class="cite-bracket">&#93;</span></a></sup> He later appeared on the TV show <i><a href="/wiki/Little_Big_Shots" title="Little Big Shots">Little Big Shots</a></i>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>&#93;</sup></li></ul> <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=Leber_congenital_amaurosis&amp;action=edit&amp;section=8" title="Edit section: Notable cases"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Akbar_Khan_(disability_activist)" title="Akbar Khan (disability activist)">Akbar Khan</a>, musician and disability activist from India</li> <li><a href="/wiki/Alexandre_Lloveras" title="Alexandre Lloveras">Alexandre Lloveras</a>, French <a href="/wiki/Para-cycling" title="Para-cycling">para-cyclist</a> who represented France at the <a href="/wiki/2020_Summer_Paralympics" title="2020 Summer Paralympics">2020 Summer Paralympics</a>.</li> <li>Anthony Ferraro, American athlete and social media personality</li> <li><a href="/wiki/Bianca_Borgella" title="Bianca Borgella">Bianca Borgella</a>, Canadian <a href="/wiki/Para-athletics" title="Para-athletics">para-athlete</a></li> <li>Jada, daughter of <a href="/wiki/Derrek_Lee" title="Derrek Lee">Derrek Leon Lee</a> an American former professional baseball first baseman.</li> <li><a href="/wiki/Jason_Dunkerley" title="Jason Dunkerley">Jason Dunkerley</a>, a Canadian Paralympian athlete</li> <li><a href="/wiki/Kelvin_Tan" title="Kelvin Tan">Kelvin Tan</a>, a Singaporean former <a href="/wiki/Mandopop" title="Mandopop">Mandopop</a> singer</li> <li><a href="/wiki/Kim_Umback" title="Kim Umback">Kim Umback</a>, a Canadian cross-country skier</li> <li><a href="/wiki/Kody_Keplinger" title="Kody Keplinger">Kody Keplinger</a>, American author of young adult and middle grade books</li> <li><a href="/wiki/Letticia_Martinez" title="Letticia Martinez">Letticia Martinez</a>, an American Paralympic swimmer who is both long course and short course American record holder</li> <li><a href="/wiki/Scott_MacIntyre" title="Scott MacIntyre">Scott Douglas MacIntyre</a>, American singer, songwriter, and pianist, and the eighth place finalist on the eighth season of American Idol.</li> <li><a href="/wiki/Tom_Pernice_Jr.#Personal_life" title="Tom Pernice Jr.">Tom Pernice Jr</a>.'s daughter, an American professional golfer</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=Leber_congenital_amaurosis&amp;action=edit&amp;section=9" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Visual_cycle" title="Visual cycle">Visual cycle</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Notes">Notes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Leber_congenital_amaurosis&amp;action=edit&amp;section=10" title="Edit section: Notes"><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"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-10"><span class="mw-cite-backlink"><b><a href="#cite_ref-10">^</a></b></span> <span class="reference-text">With 20/200 vision, one can clearly see at 20 feet what would typically be seen clearly at 200 feet.</span> </li> </ol></div></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239543626"><div class="reflist reflist-lower-alpha"> </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=Leber_congenital_amaurosis&amp;action=edit&amp;section=11" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239543626"><div class="reflist reflist-columns references-column-width" style="column-width: 30em;"> <ol class="references"> <li id="cite_note-GHR2010-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-GHR2010_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-GHR2010_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-GHR2010_1-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-GHR2010_1-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-GHR2010_1-4"><sup><i><b>e</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis">"Leber congenital amaurosis"</a>. <i>Genetics Home Reference</i>. August 2010<span class="reference-accessdate">. Retrieved <span class="nowrap">14 May</span> 2017</span>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=unknown&amp;rft.jtitle=Genetics+Home+Reference&amp;rft.atitle=Leber+congenital+amaurosis&amp;rft.date=2010-08&amp;rft_id=https%3A%2F%2Fghr.nlm.nih.gov%2Fcondition%2Fleber-congenital-amaurosis&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></span> </li> <li id="cite_note-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-2">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFStone2007" class="citation journal cs1">Stone EM (December 2007). <a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ajo.2007.08.022">"Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture"</a>. <i>American Journal of Ophthalmology</i>. <b>144</b> (6): 791–811. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ajo.2007.08.022">10.1016/j.ajo.2007.08.022</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17964524">17964524</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=American+Journal+of+Ophthalmology&amp;rft.atitle=Leber+congenital+amaurosis+-+a+model+for+efficient+genetic+testing+of+heterogeneous+disorders%3A+LXIV+Edward+Jackson+Memorial+Lecture&amp;rft.volume=144&amp;rft.issue=6&amp;rft.pages=791-811&amp;rft.date=2007-12&amp;rft_id=info%3Adoi%2F10.1016%2Fj.ajo.2007.08.022&amp;rft_id=info%3Apmid%2F17964524&amp;rft.aulast=Stone&amp;rft.aufirst=EM&amp;rft_id=https%3A%2F%2Fdoi.org%2F10.1016%252Fj.ajo.2007.08.022&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text"><i><a rel="nofollow" class="external text" href="http://www.whonamedit.com/synd.cfm/1189.html">Leber's congenital amaurosis</a></i> at <a href="/wiki/Who_Named_It%3F" class="mw-redirect" title="Who Named It?">Who Named It?</a></span> </li> <li id="cite_note-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-4">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLeber1869" class="citation journal cs1 cs1-prop-foreign-lang-source">Leber T (1869). "Über Retinitis pigmentosa und angeborene Amaurose". <i>Archiv für Ophthalmologie</i> (in German). <b>15</b> (3): 1–25. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2FBF02721213">10.1007/BF02721213</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a>&#160;<a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:543893">543893</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Archiv+f%C3%BCr+Ophthalmologie&amp;rft.atitle=%C3%9Cber+Retinitis+pigmentosa+und+angeborene+Amaurose&amp;rft.volume=15&amp;rft.issue=3&amp;rft.pages=1-25&amp;rft.date=1869&amp;rft_id=info%3Adoi%2F10.1007%2FBF02721213&amp;rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A543893%23id-name%3DS2CID&amp;rft.aulast=Leber&amp;rft.aufirst=T&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></span> </li> <li id="cite_note-Maguire,_2008-5"><span class="mw-cite-backlink">^ <a href="#cite_ref-Maguire,_2008_5-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Maguire,_2008_5-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMaguireSimonelliPiercePugh2008" class="citation journal cs1">Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, et&#160;al. 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Overview of causal genes implicated in Leber congential amaurosis".</span> </li> <li id="cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Table_2._Commonly_affected_genes_in_LCA_and_their_associated_phenotypes.&quot;-15"><span class="mw-cite-backlink"><b><a href="#cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Table_2._Commonly_affected_genes_in_LCA_and_their_associated_phenotypes.&quot;_15-0">^</a></b></span> <span class="reference-text"><a href="#CITEREFKondkarAbu-Amero2019">Kondkar &amp; Abu-Amero 2019</a>, "Table 2. Commonly affected genes in LCA and their associated phenotypes.".</span> </li> <li id="cite_note-16"><span class="mw-cite-backlink"><b><a href="#cite_ref-16">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation journal cs1"><a rel="nofollow" class="external text" href="https://www.fda.gov/BiologicsBloodVaccines/CellularGeneTherapyProducts/ApprovedProducts/ucm589507.htm">"Approved Products - LUXTURNA"</a>. <i>FDA</i>. 2019-04-05.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=FDA&amp;rft.atitle=Approved+Products+-+LUXTURNA&amp;rft.date=2019-04-05&amp;rft_id=https%3A%2F%2Fwww.fda.gov%2FBiologicsBloodVaccines%2FCellularGeneTherapyProducts%2FApprovedProducts%2Fucm589507.htm&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></span> </li> <li id="cite_note-17"><span class="mw-cite-backlink"><b><a href="#cite_ref-17">^</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://www.sciencedaily.com/releases/2024/05/240506131535.htm">"Participants of pioneering CRISPR gene editing trial see vision improve"</a>. <i>ScienceDaily</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2024-05-12</span></span>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=unknown&amp;rft.jtitle=ScienceDaily&amp;rft.atitle=Participants+of+pioneering+CRISPR+gene+editing+trial+see+vision+improve&amp;rft_id=https%3A%2F%2Fwww.sciencedaily.com%2Freleases%2F2024%2F05%2F240506131535.htm&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></span> </li> <li id="cite_note-FOOTNOTESchmittOhnsDeVries2023&quot;Treatment_of_LCA&quot;-18"><span class="mw-cite-backlink"><b><a href="#cite_ref-FOOTNOTESchmittOhnsDeVries2023&quot;Treatment_of_LCA&quot;_18-0">^</a></b></span> <span class="reference-text"><a href="#CITEREFSchmittOhnsDeVries2023">Schmitt, Ohns &amp; DeVries 2023</a>, "Treatment of LCA".</span> </li> <li id="cite_note-FOOTNOTEKondkarAbu-Amero2019&quot;Epidemiological,_historical_and_clinical_perspective_of_LCA&quot;-19"><span class="mw-cite-backlink">^ <a href="#cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Epidemiological,_historical_and_clinical_perspective_of_LCA&quot;_19-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-FOOTNOTEKondkarAbu-Amero2019&quot;Epidemiological,_historical_and_clinical_perspective_of_LCA&quot;_19-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><a href="#CITEREFKondkarAbu-Amero2019">Kondkar &amp; Abu-Amero 2019</a>, "Epidemiological, historical and clinical perspective of LCA".</span> </li> <li id="cite_note-AAPOS-20"><span class="mw-cite-backlink"><b><a href="#cite_ref-AAPOS_20-0">^</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://aapos.org/glossary/leber-congenital-amaurosis">"Leber Congenital Amaurosis"</a>. American Association for Pediatric Ophthalmology and Strabismus. April 2023<span class="reference-accessdate">. Retrieved <span class="nowrap">1 May</span> 2023</span>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&amp;rft.genre=unknown&amp;rft.btitle=Leber+Congenital+Amaurosis&amp;rft.pub=American+Association+for+Pediatric+Ophthalmology+and+Strabismus&amp;rft.date=2023-04&amp;rft_id=https%3A%2F%2Faapos.org%2Fglossary%2Fleber-congenital-amaurosis&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></span> </li> <li id="cite_note-21"><span class="mw-cite-backlink"><b><a href="#cite_ref-21">^</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://www.youtube.com/watch?v=BsXa-mAKDVs">"4 yr old Gavin using his white cane to navigate down a curb independently"</a>. <i><a href="/wiki/YouTube" title="YouTube">YouTube</a></i>. <a rel="nofollow" class="external text" href="https://ghostarchive.org/varchive/youtube/20211221/BsXa-mAKDVs">Archived</a> from the original on 2021-12-21.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=unknown&amp;rft.jtitle=YouTube&amp;rft.atitle=4+yr+old+Gavin+using+his+white+cane+to+navigate+down+a+curb+independently&amp;rft_id=https%3A%2F%2Fwww.youtube.com%2Fwatch%3Fv%3DBsXa-mAKDVs&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></span> </li> </ol></div> <div class="mw-heading mw-heading3"><h3 id="Works_cited">Works cited</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Leber_congenital_amaurosis&amp;action=edit&amp;section=12" title="Edit section: Works cited"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKondkarAbu-Amero2019" class="citation journal cs1">Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". <i>Exp Eye Res</i>. <b>189</b>: 107834. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.exer.2019.107834">10.1016/j.exer.2019.107834</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/31639339">31639339</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a>&#160;<a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:204849679">204849679</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Exp+Eye+Res&amp;rft.atitle=Leber+congenital+amaurosis%3A+Current+genetic+basis%2C+scope+for+genetic+testing+and+personalized+medicine&amp;rft.volume=189&amp;rft.pages=107834&amp;rft.date=2019-12&amp;rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A204849679%23id-name%3DS2CID&amp;rft_id=info%3Apmid%2F31639339&amp;rft_id=info%3Adoi%2F10.1016%2Fj.exer.2019.107834&amp;rft.aulast=Kondkar&amp;rft.aufirst=AA&amp;rft.au=Abu-Amero%2C+KK&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSchmittOhnsDeVries2023" class="citation journal cs1">Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". <i>Journal for Nurse Practitioners</i>. <b>19</b> (5): 104560. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.nurpra.2023.104560">10.1016/j.nurpra.2023.104560</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a>&#160;<a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:258096914">258096914</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Journal+for+Nurse+Practitioners&amp;rft.atitle=Leber+Congenital+Amaurosis%3A+Leading+Cause+of+Inherited+Blindness+in+Children&amp;rft.volume=19&amp;rft.issue=5&amp;rft.pages=104560&amp;rft.date=2023-05&amp;rft_id=info%3Adoi%2F10.1016%2Fj.nurpra.2023.104560&amp;rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A258096914%23id-name%3DS2CID&amp;rft.aulast=Schmitt&amp;rft.aufirst=TM&amp;rft.au=Ohns%2C+MJ&amp;rft.au=DeVries%2C+JJ&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></li></ul> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Leber_congenital_amaurosis&amp;action=edit&amp;section=13" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGambino2008" class="citation web cs1">Gambino, Megan (December 17, 2008). <a rel="nofollow" class="external text" href="https://web.archive.org/web/20130625073844/http://www.smithsonianmag.com/science-nature/Jocelyn-Kaiser-Contributor.html">"Jocelyn Kaiser on 'Gene Therapy in a New Light'<span class="cs1-kern-right"></span>"</a>. Science &amp; Nature. <i><a href="/wiki/Smithsonian_(magazine)" title="Smithsonian (magazine)">Smithsonian</a></i>. p.&#160;124. Archived from <a rel="nofollow" class="external text" href="http://www.smithsonianmag.com/science-nature/Jocelyn-Kaiser-Contributor.html">the original</a> on 25 June 2013<span class="reference-accessdate">. Retrieved <span class="nowrap">22 May</span> 2021</span>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=unknown&amp;rft.jtitle=Smithsonian&amp;rft.atitle=Jocelyn+Kaiser+on+%27Gene+Therapy+in+a+New+Light%27&amp;rft.pages=124&amp;rft.date=2008-12-17&amp;rft.aulast=Gambino&amp;rft.aufirst=Megan&amp;rft_id=http%3A%2F%2Fwww.smithsonianmag.com%2Fscience-nature%2FJocelyn-Kaiser-Contributor.html&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLewis2012" class="citation book cs1">Lewis, Ricki (2012). <i>The Forever Fix: Gene Therapy and the Boy Who Saved It</i>. New York: St. Martin's Press. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a>&#160;<a href="/wiki/Special:BookSources/978-0-312-68190-6" title="Special:BookSources/978-0-312-68190-6"><bdi>978-0-312-68190-6</bdi></a>. <a href="/wiki/OCLC_(identifier)" class="mw-redirect" title="OCLC (identifier)">OCLC</a>&#160;<a rel="nofollow" class="external text" href="https://search.worldcat.org/oclc/740628904">740628904</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&amp;rft.genre=book&amp;rft.btitle=The+Forever+Fix%3A+Gene+Therapy+and+the+Boy+Who+Saved+It&amp;rft.place=New+York&amp;rft.pub=St.+Martin%27s+Press&amp;rft.date=2012&amp;rft_id=info%3Aoclcnum%2F740628904&amp;rft.isbn=978-0-312-68190-6&amp;rft.aulast=Lewis&amp;rft.aufirst=Ricki&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALeber+congenital+amaurosis" class="Z3988"></span></li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Leber_congenital_amaurosis&amp;action=edit&amp;section=14" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1298/">GeneReview/NIH/UW entry on Leber Congenital Amaurosis</a></li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output .navbox-subgroup{width:100%}.mw-parser-output .navbox-group,.mw-parser-output .navbox-title,.mw-parser-output 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("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/Q1811132" class="extiw" title="d:Q1811132">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=362.76">362.76</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/204000">204000</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=D057130">D057130</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/ddb33192.htm">33192</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/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1298/">Leber Congenital Amaurosis</a></li></ul></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"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_the_human_eye" style="padding:3px"><table class="nowraplinks mw-collapsible expanded 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"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Eye_pathology" title="Template:Eye pathology"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Eye_pathology" title="Template talk:Eye pathology"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Eye_pathology" title="Special:EditPage/Template:Eye pathology"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_the_human_eye" style="font-size:114%;margin:0 4em"><div class="hlist"><ul><li><a href="/wiki/Eye_disease" title="Eye disease">Diseases of the human eye</a></li></ul></div></div></th></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="Adnexa" style="font-size:114%;margin:0 4em"><a href="/wiki/Accessory_visual_structures" title="Accessory visual 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 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/Trichiasis" title="Trichiasis">Trichiasis</a></li> <li><a href="/wiki/Madarosis" title="Madarosis">Madarosis</a></li> <li><a href="/wiki/Distichiasis" class="mw-redirect" title="Distichiasis">Distichiasis</a></li> <li><a href="/wiki/Trichomegaly" title="Trichomegaly">Trichomegaly</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/Lacrimal_apparatus" title="Lacrimal apparatus">Lacrimal apparatus</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/Dacryoadenitis" title="Dacryoadenitis">Dacryoadenitis</a></li> <li><a href="/wiki/Epiphora_(medicine)" title="Epiphora (medicine)">Epiphora</a></li> <li><a href="/wiki/Dacryocystitis" 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 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/Chemosis" title="Chemosis">Chemosis</a></li> <li><a href="/wiki/Conjunctivitis" title="Conjunctivitis">Conjunctivitis</a> <ul><li><a href="/wiki/Allergic_conjunctivitis" title="Allergic conjunctivitis">allergic</a></li></ul></li> <li><a href="/wiki/Pterygium_(conjunctiva)" class="mw-redirect" title="Pterygium (conjunctiva)">Pterygium</a></li> <li><a href="/wiki/Pseudopterygium" title="Pseudopterygium">Pseudopterygium</a></li> <li><a href="/wiki/Pinguecula" title="Pinguecula">Pinguecula</a></li> <li><a href="/wiki/Subconjunctival_bleeding" title="Subconjunctival bleeding">Subconjunctival hemorrhage</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="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&#39;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&#39; 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&#39;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&#39;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>&#160;/&#32;<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&#39;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&#39;s crystalline dystrophy">Bietti's crystalline dystrophy</a></li> <li><a href="/wiki/Coats%27_disease" title="Coats&#39; 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 href="/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa">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&#39;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>&#160;/&#32;<a href="/wiki/Ocular_hypertension" title="Ocular hypertension">Ocular hypertension</a>&#160;/&#32;<a href="/wiki/Primary_juvenile_glaucoma" class="mw-redirect" 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&#39;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&#160;(AION)</a></li> <li><a href="/wiki/Posterior_ischemic_optic_neuropathy" title="Posterior ischemic optic neuropathy">posterior&#160;(PION)</a></li> <li><a href="/wiki/Arteritic_anterior_ischemic_optic_neuropathy" title="Arteritic anterior ischemic optic neuropathy">arteritic anterior&#160;(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&#160;(NAION)</a></li></ul></li> <li><a href="/wiki/Kjer%27s_optic_neuropathy" title="Kjer&#39;s optic neuropathy">Kjer's</a></li> <li><a href="/wiki/Leber%27s_hereditary_optic_neuropathy" title="Leber&#39;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>&#160;/&#32;<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&#39;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>&#160;/&#32;<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&#39;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>&#160;/&#32;<a href="/wiki/Vision_loss" class="mw-redirect" title="Vision loss">Vision loss</a>&#160;/&#32;<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&#39;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="Cell_surface_receptor_deficiencies" 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:Cell_surface_receptor_deficiencies" title="Template:Cell surface receptor deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cell_surface_receptor_deficiencies" title="Template talk:Cell surface receptor deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cell_surface_receptor_deficiencies" title="Special:EditPage/Template:Cell surface receptor deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cell_surface_receptor_deficiencies" style="font-size:114%;margin:0 4em"><a href="/wiki/Cell_surface_receptor" title="Cell surface receptor">Cell surface receptor</a> deficiencies</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/G_protein-coupled_receptor" title="G protein-coupled receptor">G protein-coupled receptor</a><br />(including <a href="/wiki/Hormone_receptor" title="Hormone receptor">hormone</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%">Class 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><i><a href="/wiki/Thyrotropin_receptor" title="Thyrotropin receptor">TSHR</a></i> (<a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 1</a>)</li> <li><i><a href="/wiki/Luteinizing_hormone/choriogonadotropin_receptor" title="Luteinizing hormone/choriogonadotropin receptor">LHCGR</a></i> (<a href="/wiki/Luteinizing_hormone_insensitivity" class="mw-redirect" title="Luteinizing hormone insensitivity">Luteinizing hormone insensitivity</a>, <a href="/wiki/Leydig_cell_hypoplasia" title="Leydig cell hypoplasia">Leydig cell hypoplasia</a>, <a href="/wiki/Male-limited_precocious_puberty" class="mw-redirect" title="Male-limited precocious puberty">Male-limited precocious puberty</a>)</li> <li><i><a href="/wiki/FSH-receptor" class="mw-redirect" title="FSH-receptor">FSHR</a></i> (<a href="/wiki/Follicle-stimulating_hormone_insensitivity" title="Follicle-stimulating hormone insensitivity">Follicle-stimulating hormone insensitivity</a>, <a href="/wiki/XX_gonadal_dysgenesis" title="XX gonadal dysgenesis">XX gonadal dysgenesis</a>)</li> <li><i><a href="/wiki/Gonadotropin-releasing_hormone_receptor" title="Gonadotropin-releasing hormone receptor">GnRHR</a></i> (<a href="/wiki/Gonadotropin-releasing_hormone_insensitivity" title="Gonadotropin-releasing hormone insensitivity">Gonadotropin-releasing hormone insensitivity</a>)</li> <li><i><a href="/wiki/Endothelin_receptor" title="Endothelin receptor">EDNRB</a></i> (<a href="/wiki/ABCD_syndrome" title="ABCD syndrome">ABCD syndrome</a>, <a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4a</a>, <a href="/wiki/Hirschsprung%27s_disease" title="Hirschsprung&#39;s disease">Hirschsprung's disease 2</a>)</li> <li><i><a href="/wiki/AVPR2" class="mw-redirect" title="AVPR2">AVPR2</a></i> (<a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 1</a>)</li> <li><i><a href="/wiki/Prostaglandin_E2_receptor" title="Prostaglandin E2 receptor">PTGER2</a></i> (<a href="/wiki/Aspirin-exacerbated_respiratory_disease" title="Aspirin-exacerbated respiratory disease">Aspirin-exacerbated respiratory disease</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class B</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PTH1R" class="mw-redirect" title="PTH1R">PTH1R</a></i> (<a href="/wiki/Jansen%27s_metaphyseal_chondrodysplasia" title="Jansen&#39;s metaphyseal chondrodysplasia">Jansen's metaphyseal chondrodysplasia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class C</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">CASR</a></i> (<a href="/wiki/Familial_hypocalciuric_hypercalcemia" title="Familial hypocalciuric hypercalcemia">Familial hypocalciuric hypercalcemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class F</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/FZD4" class="mw-redirect" title="FZD4">FZD4</a></i> (<a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 1</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/Enzyme-linked_receptor" title="Enzyme-linked receptor">Enzyme-linked receptor</a><br />(including<br /><a href="/wiki/Growth_factor_receptor" title="Growth factor receptor">growth factor</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/Receptor_tyrosine_kinase" title="Receptor tyrosine kinase">RTK</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><i><a href="/wiki/ROR2" title="ROR2">ROR2</a></i> (<a href="/wiki/Robinow_syndrome" title="Robinow syndrome">Robinow syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_1" title="Fibroblast growth factor receptor 1">FGFR1</a></i> (<a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL2 Kallmann syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_2" title="Fibroblast growth factor receptor 2">FGFR2</a></i> (<a href="/wiki/Apert_syndrome" title="Apert syndrome">Apert syndrome</a>, <a href="/wiki/Antley%E2%80%93Bixler_syndrome" title="Antley–Bixler syndrome">Antley–Bixler syndrome</a>, <a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Crouzon_syndrome" title="Crouzon syndrome">Crouzon syndrome</a>, <a href="/wiki/Jackson%E2%80%93Weiss_syndrome" title="Jackson–Weiss syndrome">Jackson–Weiss syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_3" title="Fibroblast growth factor receptor 3">FGFR3</a></i> (<a href="/wiki/Achondroplasia" title="Achondroplasia">Achondroplasia</a>, <a href="/wiki/Hypochondroplasia" title="Hypochondroplasia">Hypochondroplasia</a>, <a href="/wiki/Thanatophoric_dysplasia" title="Thanatophoric dysplasia">Thanatophoric dysplasia</a>, <a href="/wiki/Muenke_syndrome" title="Muenke syndrome">Muenke syndrome</a>)</li> <li><i><a href="/wiki/Insulin_receptor" title="Insulin receptor">INSR</a></i> (<a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a></li> <li><a href="/wiki/Rabson%E2%80%93Mendenhall_syndrome" title="Rabson–Mendenhall syndrome">Rabson–Mendenhall syndrome</a>)</li> <li><i><a href="/wiki/TrkA_receptor" class="mw-redirect" title="TrkA receptor">NTRK1</a></i> (<a href="/wiki/Congenital_insensitivity_to_pain_with_anhidrosis" title="Congenital insensitivity to pain with anhidrosis">Congenital insensitivity to pain with anhidrosis</a>)</li> <li><i><a href="/wiki/CD117" class="mw-redirect" title="CD117">KIT</a></i> (<a href="/wiki/Piebaldism" title="Piebaldism">KIT Piebaldism</a>, <a href="/wiki/Gastrointestinal_stromal_tumor" title="Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serine/threonine-specific_protein_kinase" title="Serine/threonine-specific protein kinase">STPK</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><i><a href="/wiki/Anti-M%C3%BCllerian_hormone_receptor" title="Anti-Müllerian hormone receptor">AMHR2</a></i> (<a href="/wiki/Persistent_M%C3%BCllerian_duct_syndrome" title="Persistent Müllerian duct syndrome">Persistent Müllerian duct syndrome II</a>)</li></ul> <ul><li><a href="/wiki/TGF_beta_receptors" class="mw-redirect" title="TGF beta receptors">TGF beta receptors</a>: <a href="/wiki/Endoglin" title="Endoglin">Endoglin</a>/<a href="/wiki/ACVRL1" title="ACVRL1">Alk-1</a>/<a href="/wiki/Mothers_against_decapentaplegic_homolog_4" title="Mothers against decapentaplegic homolog 4">SMAD4</a> (<a href="/wiki/Hereditary_hemorrhagic_telangiectasia" title="Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a>)</li> <li><a href="/wiki/TGF_beta_receptor_1" title="TGF beta receptor 1">TGFBR1</a>/<a href="/wiki/TGF_beta_receptor_2" title="TGF beta receptor 2">TGFBR2</a> (<a href="/wiki/Loeys%E2%80%93Dietz_syndrome" title="Loeys–Dietz syndrome">Loeys–Dietz syndrome</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanylate_cyclase" title="Guanylate cyclase">GC</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><i><a href="/wiki/GUCY2D" title="GUCY2D">GUCY2D</a></i> (<a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber&#39;s congenital amaurosis">Leber's congenital amaurosis 1</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/JAK-STAT_signaling_pathway" title="JAK-STAT signaling pathway">JAK-STAT</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/Type_I_cytokine_receptor" title="Type I cytokine receptor">Type I cytokine receptor</a>: <i><a href="/wiki/Growth_hormone_receptor" title="Growth hormone receptor">GH</a></i> (<a href="/wiki/Laron_syndrome" title="Laron syndrome">Laron syndrome</a>)</li> <li><i><a href="/wiki/Granulocyte_macrophage_colony-stimulating_factor_receptor" class="mw-redirect" title="Granulocyte macrophage colony-stimulating factor receptor">CSF2RA</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 4</a>)</li></ul> <ul><li><a href="/wiki/Myeloproliferative_leukemia_virus_oncogene" class="mw-redirect" title="Myeloproliferative leukemia virus oncogene">MPL</a> (<a href="/wiki/Congenital_amegakaryocytic_thrombocytopenia" title="Congenital amegakaryocytic thrombocytopenia">Congenital amegakaryocytic thrombocytopenia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tumor_necrosis_factor_receptor" class="mw-redirect" title="Tumor necrosis factor receptor">TNF receptor</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><i><a href="/wiki/TNFRSF1A" class="mw-redirect" title="TNFRSF1A">TNFRSF1A</a></i> (<a href="/wiki/TNF_receptor_associated_periodic_syndrome" title="TNF receptor associated periodic syndrome">TNF receptor associated periodic syndrome</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">Selective immunoglobulin A deficiency 2</a>)</li> <li><i><a href="/wiki/CD40_(protein)" title="CD40 (protein)">TNFRSF5</a></i> (<a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a>)</li> <li><i><a href="/wiki/TNFRSF13C" class="mw-redirect" title="TNFRSF13C">TNFRSF13C</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID4</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID2</a>)</li> <li><i><a href="/wiki/Fas_receptor" title="Fas receptor">TNFRSF6</a></i> (<a href="/wiki/Autoimmune_lymphoproliferative_syndrome" title="Autoimmune lymphoproliferative syndrome">Autoimmune lymphoproliferative syndrome 1A</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lipid receptor</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/Lipoprotein_receptor-related_protein" title="Lipoprotein receptor-related protein">LRP</a>: <i><a href="/wiki/LRP2" title="LRP2">LRP2</a></i> (<a href="/wiki/Donnai%E2%80%93Barrow_syndrome" title="Donnai–Barrow syndrome">Donnai–Barrow syndrome</a>)</li> <li><i><a href="/wiki/Low_density_lipoprotein_receptor-related_protein_4" class="mw-redirect" title="Low density lipoprotein receptor-related protein 4">LRP4</a></i> (<a href="/wiki/Cenani%E2%80%93Lenz_syndactylism" title="Cenani–Lenz syndactylism">Cenani–Lenz syndactylism</a>)</li> <li><i><a href="/wiki/LRP5" title="LRP5">LRP5</a></i> (<a href="/wiki/Worth_syndrome" title="Worth syndrome">Worth syndrome</a>, <a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 4</a>, <a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis 1</a>)</li></ul> <ul><li><i><a href="/wiki/LDL_receptor" title="LDL receptor">LDLR</a></i> (<a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">LDLR Familial hypercholesterolemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</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/Immunoglobulin_superfamily" title="Immunoglobulin superfamily">Immunoglobulin superfamily</a>: <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">AGM3, 6</a></li></ul> <ul><li><a href="/wiki/Integrin" title="Integrin">Integrin</a>: <a href="/wiki/Leukocyte_adhesion_deficiency-1" title="Leukocyte adhesion deficiency-1">LAD1</a></li> <li><a href="/wiki/Glanzmann%27s_thrombasthenia" title="Glanzmann&#39;s thrombasthenia">Glanzmann's thrombasthenia</a></li> <li><a href="/wiki/Junctional_epidermolysis_bullosa_with_pyloric_atresia" class="mw-redirect" title="Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></li></ul> <p><i><a href="/wiki/EDAR" class="mw-redirect" title="EDAR">EDAR</a></i> (<a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDAR hypohidrotic ectodermal dysplasia</a>) </p> <ul><li><i><a href="/wiki/PTCH1" title="PTCH1">PTCH1</a></i> (<a href="/wiki/Nevoid_basal-cell_carcinoma_syndrome" title="Nevoid basal-cell carcinoma syndrome">Nevoid basal-cell carcinoma syndrome</a>)</li> <li><i><a href="/wiki/BMPR1A" title="BMPR1A">BMPR1A</a></i> (<a href="/wiki/Juvenile_polyposis_syndrome" title="Juvenile polyposis syndrome">BMPR1A juvenile polyposis syndrome</a>)</li> <li><i><a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a></i> (<a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a>)</li></ul> <dl><dt>See also</dt> <dd><a href="/wiki/Template:Cell_surface_receptors" title="Template:Cell surface receptors">cell surface receptors</a></dd></dl> </div></td></tr></tbody></table></div> <!-- NewPP limit report Parsed by mw‐web.codfw.main‐5857dfdcd6‐2qvcz Cached time: 20241203075546 Cache expiry: 2592000 Reduced expiry: false Complications: [vary‐revision‐sha1, show‐toc] CPU time usage: 0.596 seconds Real time usage: 0.840 seconds Preprocessor visited node count: 4542/1000000 Post‐expand include size: 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