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class="vector-toc-numb">1.3</span> <span>Cerebral folate deficiency</span> </div> </a> <ul id="toc-Cerebral_folate_deficiency-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Cause_and_prevalence" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Cause_and_prevalence"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.4</span> <span>Cause and prevalence</span> </div> </a> <ul id="toc-Cause_and_prevalence-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Genetics" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Genetics"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Genetics</span> </div> </a> <ul id="toc-Genetics-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div 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id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Kearns–Sayre syndrome</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another 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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%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D9%83%D9%8A%D8%B1%D9%86%D8%B2_%D8%B3%D8%A7%D9%8A%D8%B1" title="متلازمة كيرنز ساير – Arabic" lang="ar" hreflang="ar" data-title="متلازمة كيرنز ساير" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/S%C3%ADndrome_de_Kearns-Sayre" title="Síndrome de Kearns-Sayre – Catalan" lang="ca" hreflang="ca" data-title="Síndrome de Kearns-Sayre" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/Kearns%C5%AFv%E2%80%93Sayre%C5%AFv_syndrom" title="Kearnsův–Sayreův syndrom – Czech" lang="cs" hreflang="cs" data-title="Kearnsův–Sayreův syndrom" data-language-autonym="Čeština" data-language-local-name="Czech" class="interlanguage-link-target"><span>Čeština</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Kearns-Sayre-Syndrom" title="Kearns-Sayre-Syndrom – German" lang="de" hreflang="de" data-title="Kearns-Sayre-Syndrom" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/S%C3%ADndrome_de_Kearns-Sayre" title="Síndrome de Kearns-Sayre – Spanish" lang="es" hreflang="es" data-title="Síndrome de Kearns-Sayre" 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/%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%DA%A9%D8%B1%D9%86%D8%B3-%D8%B3%D9%87%E2%80%8C%DB%8C%D8%B1" title="سندرم کرنس-سه‌یر – Persian" lang="fa" hreflang="fa" data-title="سندرم کرنس-سه‌یر" 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/Syndrome_de_Kearns-Sayre" title="Syndrome de Kearns-Sayre – French" lang="fr" hreflang="fr" data-title="Syndrome de Kearns-Sayre" 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/Miopatia_mitocondriale_di_Kearns-Sayre" title="Miopatia mitocondriale di Kearns-Sayre – Italian" lang="it" hreflang="it" data-title="Miopatia mitocondriale di Kearns-Sayre" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%AA%D7%A1%D7%9E%D7%95%D7%A0%D7%AA_%D7%A7%D7%A8%D7%A0%D7%A1-%D7%A1%D7%99%D7%99%D7%A8" title="תסמונת קרנס-סייר – Hebrew" lang="he" hreflang="he" data-title="תסמונת קרנס-סייר" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-la mw-list-item"><a href="https://la.wikipedia.org/wiki/Syndroma_Kearns-Sayre" title="Syndroma Kearns-Sayre – Latin" lang="la" hreflang="la" data-title="Syndroma Kearns-Sayre" data-language-autonym="Latina" data-language-local-name="Latin" class="interlanguage-link-target"><span>Latina</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Syndroom_van_Kearns-Sayre" title="Syndroom van Kearns-Sayre – Dutch" lang="nl" hreflang="nl" data-title="Syndroom van Kearns-Sayre" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Kearnsa-Sayre%E2%80%99a" title="Zespół Kearnsa-Sayre’a – Polish" lang="pl" hreflang="pl" data-title="Zespół Kearnsa-Sayre’a" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%9A%D0%B5%D1%80%D0%BD%D1%81%D0%B0_%E2%80%94_%D0%A1%D0%B5%D0%B9%D1%80%D0%B0" title="Синдром Кернса — Сейра – Russian" lang="ru" hreflang="ru" data-title="Синдром Кернса — Сейра" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-tt mw-list-item"><a href="https://tt.wikipedia.org/wiki/%D0%9A%D0%B5%D1%80%D0%BD%D1%81-%D0%A1%D0%B5%D0%B9%D1%80_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%D1%8B" title="Кернс-Сейр синдромы – Tatar" lang="tt" hreflang="tt" data-title="Кернс-Сейр синдромы" data-language-autonym="Татарча / tatarça" data-language-local-name="Tatar" class="interlanguage-link-target"><span>Татарча / tatarça</span></a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/H%E1%BB%99i_ch%E1%BB%A9ng_Kearns%E2%80%93Sayre" title="Hội chứng Kearns–Sayre – Vietnamese" lang="vi" hreflang="vi" data-title="Hội chứng Kearns–Sayre" data-language-autonym="Tiếng Việt" data-language-local-name="Vietnamese" class="interlanguage-link-target"><span>Tiếng Việt</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/Q2605012#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 aria-label="Namespaces"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet 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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">Kearns–Sayre syndrome</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Oculocraniosomatic disorder or Oculocranionsomatic neuromuscular disorder with ragged red fibers</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> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q2605012?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></tbody></table> <p><b>Kearns–Sayre syndrome</b> (<b>KSS), oculocraniosomatic disorder</b> or <b>oculocranionsomatic neuromuscular disorder with ragged red fibers</b> is a <a href="/wiki/Mitochondrial_myopathy" title="Mitochondrial myopathy">mitochondrial myopathy</a> with a typical onset before 20 years of age. KSS is a more severe syndromic variant of <a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">chronic progressive external ophthalmoplegia</a> (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). This results in <a href="/wiki/Ptosis_(eyelid)" title="Ptosis (eyelid)">ptosis</a> and <a href="/wiki/Ophthalmoplegia" class="mw-redirect" title="Ophthalmoplegia">ophthalmoplegia</a> respectively. KSS involves a combination of the already described CPEO as well as <a href="/wiki/Pigmentary_retinopathy" class="mw-redirect" title="Pigmentary retinopathy">pigmentary retinopathy</a> in both eyes and <a href="/wiki/Heart_block" title="Heart block">cardiac conduction abnormalities</a>. Other symptoms may include <a href="/wiki/Cerebellar_ataxia" title="Cerebellar ataxia">cerebellar ataxia</a>, proximal muscle weakness, <a href="/wiki/Deafness" title="Deafness">deafness</a>, <a href="/wiki/Diabetes_mellitus" class="mw-redirect" title="Diabetes mellitus">diabetes mellitus</a>, <a href="/wiki/Growth_hormone_deficiency" title="Growth hormone deficiency">growth hormone deficiency</a>, <a href="/wiki/Hypoparathyroidism" title="Hypoparathyroidism">hypoparathyroidism</a>, and other <a href="/wiki/Endocrinopathy" class="mw-redirect" title="Endocrinopathy">endocrinopathies</a>.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. This discussion is limited specifically to the more severe and systemically involved variant. </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=Kearns%E2%80%93Sayre_syndrome&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Individuals with KSS present initially in a similar way to those with typical CPEO. Onset is in the first and second decades of life.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (August 2020)">citation needed</span></a></i>]</sup> </p><p>The first symptom of this disease is a unilateral <a href="/wiki/Ptosis_(eyelid)" title="Ptosis (eyelid)">ptosis</a>, or difficulty opening the eyelids, that gradually progresses to a bilateral ptosis. As the ptosis worsens, the individual commonly extends their neck, elevating their chin in an attempt to prevent the eyelids from occluding the visual axis. Along with the insidious development of ptosis, eye movements eventually become limited causing a person to rely more on turning the head side to side or up and down to view objects in the peripheral <a href="/wiki/Visual_field" title="Visual field">visual field</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (August 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Mitochondrial_retinopathy">Mitochondrial retinopathy</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=2" title="Edit section: Mitochondrial retinopathy"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Fundus_of_patient_with_retinitis_pigmentosa,_mid_stage.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/49/Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg/220px-Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg" decoding="async" width="220" height="189" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/49/Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg/330px-Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/49/Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg/440px-Fundus_of_patient_with_retinitis_pigmentosa%2C_mid_stage.jpg 2x" data-file-width="871" data-file-height="747" /></a><figcaption>Retinitis pigmentosa, mid stage</figcaption></figure> <p>Kearns and Sayre described patients with "pigmentary degeneration" on funduscopy, night vision abnormalities, and some histologic similarities, but also clinical differences, to <a href="/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa">retinitis pigmentosa</a><sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Subsequently, the retinal phenotype of KSS was described as retinitis pigmentosa, atypical retinitis pigmentosa, tapetoretinal degeneration, salt-and-pepper retinopathy, and pigmentary retinopathy. As the clinical characterization, however, was not always comprehensive the term "mitochondrial retinopathy" appears most accurate and the diagnosis of RP may have been imprecise.<sup id="cite_ref-auto_3-0" class="reference"><a href="#cite_note-auto-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Patients with KSS show widespread granular pigmented alterations in the posterior <a href="/wiki/Fundus_(eye)" title="Fundus (eye)">fundus</a> which correspond to granular patterns on fundus autofluorescence imaging. Associated changes on optical coherence tomography (OCT) include reflectivity changes predominantly at the level of the ellipsoid and interdigitation zone and an increased distance between the ellipsoid band and the <a href="/wiki/Retinal_pigment_epithelium" title="Retinal pigment epithelium">retinal pigment epithelium</a>.<sup id="cite_ref-auto_3-1" class="reference"><a href="#cite_note-auto-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Night blindness may be seen in patients with KSS. Visual acuity loss is usually mild and only occurs in 40–50% of patients.<sup id="cite_ref-Ref-1_4-0" class="reference"><a href="#cite_note-Ref-1-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Cardiac_conduction_abnormalities">Cardiac conduction abnormalities</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=3" title="Edit section: Cardiac conduction abnormalities"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>These most often occur years after the development of ptosis and ophthalmoplegia.<sup id="cite_ref-Ref-1_4-1" class="reference"><a href="#cite_note-Ref-1-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> <a href="/wiki/AV_block" class="mw-redirect" title="AV block">Atrioventricular (abbreviated "AV") block</a> is the most common cardiac conduction deficit. This often progresses to a <a href="/wiki/Third_degree_heart_block" class="mw-redirect" title="Third degree heart block">Third-degree atrioventricular block</a>, which is a complete blockage of the electrical conduction from the atrium to the ventricle. Symptoms of heart block include <a href="/wiki/Syncope_(medicine)" title="Syncope (medicine)">syncope</a>, <a href="/wiki/Exercise_intolerance" title="Exercise intolerance">exercise intolerance</a>, and <a href="/wiki/Bradycardia" title="Bradycardia">bradycardia</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (August 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Cerebral_folate_deficiency">Cerebral folate deficiency</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=4" title="Edit section: Cerebral folate deficiency"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Kearns-Sayre patients are consistently found to have <a href="/wiki/Cerebral_folate_deficiency" title="Cerebral folate deficiency">cerebral folate deficiency</a>, a syndrome in which <a href="/wiki/5-MTHF" class="mw-redirect" title="5-MTHF">5-MTHF</a> levels are decreased in the <a href="/wiki/Cerebrospinal_fluid" title="Cerebrospinal fluid">cerebrospinal fluid</a> despite being normal in serum.<sup id="cite_ref-pmid18413591_5-0" class="reference"><a href="#cite_note-pmid18413591-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Treatment with <a href="/wiki/Folinic_acid" title="Folinic acid">folinic acid</a> can in some cases alleviate the associated symptoms and partially correct associated brain abnormalities, especially if started early in the course of illness.<sup id="cite_ref-pmid25539952_6-0" class="reference"><a href="#cite_note-pmid25539952-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> The proposed cause of cerebral folate deficiency in the Kearns–Sayre syndrome is the failure of the mechanisms in the <a href="/wiki/Choroid_plexus" title="Choroid plexus">choroid plexus</a> that are responsible for passage of folates from the serum to the cerebrospinal fluid.<sup id="cite_ref-pmid20731822_7-0" class="reference"><a href="#cite_note-pmid20731822-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Cause_and_prevalence">Cause and prevalence</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=5" title="Edit section: Cause and prevalence"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>As characterized in Kearns's original publication in 1965 and in later publications, inconsistent features of KSS that may occur are weakness of facial, pharyngeal, trunk, and extremity muscles, <a href="/wiki/Hearing_impairment" class="mw-redirect" title="Hearing impairment">hearing loss</a>, small stature, electroencephalographic changes, <a href="/wiki/Cerebellar_ataxia" title="Cerebellar ataxia">cerebellar ataxia</a> and elevated levels of <a href="/wiki/Cerebrospinal_fluid" title="Cerebrospinal fluid">cerebrospinal fluid</a> protein.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>Kearns–Sayre syndrome occurs spontaneously in the majority of cases. In some cases it has been shown to be inherited through mitochondrial, autosomal dominant, or autosomal recessive inheritance. There is no predilection for race or sex, and there are no known risk factors. As of 1992 there were only 226 cases reported in published literature.<sup id="cite_ref-EMed950897_9-0" class="reference"><a href="#cite_note-EMed950897-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Although NIH and other studies estimate occurrence in the population to be 1–3 and some as high as 9 in 100,000 individuals but a failure to be referred to specialist centres and recognise the disease symptoms is common <sup id="cite_ref-EMed950897_9-1" class="reference"><a href="#cite_note-EMed950897-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=6" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>KSS is the result of deletions in <a href="/wiki/Mitochondrial_DNA" title="Mitochondrial DNA">mitochondrial DNA</a> (mtDNA) that cause a particular constellation of <a href="/wiki/Medical_sign" class="mw-redirect" title="Medical sign">medical signs</a> and symptoms. mtDNA is transmitted exclusively from the mother's ovum.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> Mitochondrial DNA is composed of 37 <a href="/wiki/Genes" class="mw-redirect" title="Genes">genes</a> found in the single circular <a href="/wiki/Chromosome" title="Chromosome">chromosome</a> measuring 16,569 <a href="/wiki/Base_pairs" class="mw-redirect" title="Base pairs">base pairs</a> in length. Among these, 13 genes encode proteins of the <a href="/wiki/Electron_transport_chain" title="Electron transport chain">electron transport chain</a> (abbreviated "ETC"), 22 encode <a href="/wiki/Transfer_RNA" title="Transfer RNA">transfer RNA</a> (tRNA), and two encode the large and small subunits that form <a href="/wiki/Ribosomal_RNA" title="Ribosomal RNA">ribosomal RNA</a> (rRNA). The 13 proteins involved in the ETC of the mitochondrion are necessary for <a href="/wiki/Oxidative_phosphorylation" title="Oxidative phosphorylation">oxidative phosphorylation</a>. Mutations in these proteins results in impaired energy production by mitochondria. This cellular energy deficit manifests most readily in tissues that rely heavily upon aerobic metabolism such as the brain, skeletal and cardiac muscles, sensory organs, and kidneys. This is one factor involved in the presentation of mitochondrial diseases.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p><p>There are other factors involved in the manifestation of a mitochondrial disease besides the size and location of a mutation. Mitochondria replicate during each cell division during gestation and throughout life. Because the mutation in mitochondrial disease most often occurs early in gestation in these diseases, only those mitochondria in the mutated lineage are defective. This results in an uneven distribution of dysfunctional mitochondria within each cell, and among different tissues of the body. This describes the term <a href="/wiki/Heteroplasmic" class="mw-redirect" title="Heteroplasmic">heteroplasmic</a> which is characteristic of mitochondrial diseases including KSS. The distribution of mutated mtDNA in each cell, tissue, and organ, is dependent on when and where the mutation occurs.<sup id="cite_ref-Shoubridge97_11-0" class="reference"><a href="#cite_note-Shoubridge97-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> This may explain why two patients with an identical mutation in mtDNA can present with entirely different phenotypes and in turn different syndromes. A publication in 1992 by Fischel-Ghodsian et al. identified the same 4,977-bp deletion in mtDNA in two patients presenting with two entirely different diseases. One of the patients had characteristic KSS, while the other patient had a very different disease known as <a href="/wiki/Pearson_marrow_pancreas_syndrome" class="mw-redirect" title="Pearson marrow pancreas syndrome">Pearson marrow pancreas syndrome</a>.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Complicating the matter, in some cases Pearson's syndrome has been shown to progress into KSS later in life.<sup id="cite_ref-Ref-2_13-0" class="reference"><a href="#cite_note-Ref-2-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>More recent studies have concluded that mtDNA duplications may also play a significant role in determining what phenotype is present. Duplications of mtDNA seem to be characteristic of all cases of KSS and Pearson's syndrome, while they are absent in CPEO.<sup id="cite_ref-Ref-2_13-1" class="reference"><a href="#cite_note-Ref-2-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p><p>Deletions of mtDNA in KSS vary in size (1.3–8kb), as well as position in the <a href="/wiki/Mitochondrial_genome" class="mw-redirect" title="Mitochondrial genome">mitochondrial genome</a>. The most common deletion is 4.9kb and spans from position 8469 to position 13147 on the <a href="/wiki/Genome" title="Genome">genome</a>. This deletion is present in approximately ⅓ of people with KSS<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=7" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Ragged_red_fibers_in_MELAS.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/d/df/Ragged_red_fibers_in_MELAS.jpg/220px-Ragged_red_fibers_in_MELAS.jpg" decoding="async" width="220" height="178" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/df/Ragged_red_fibers_in_MELAS.jpg/330px-Ragged_red_fibers_in_MELAS.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/df/Ragged_red_fibers_in_MELAS.jpg/440px-Ragged_red_fibers_in_MELAS.jpg 2x" data-file-width="473" data-file-height="382" /></a><figcaption>An example of ragged red fibers</figcaption></figure> <p>A <a href="/wiki/Neuro-ophthalmologist" class="mw-redirect" title="Neuro-ophthalmologist">neuro-ophthalmologist</a> is usually involved in the diagnosis and management of KSS. An individual should be suspected of having KSS based upon clinical exam findings. Suspicion for myopathies should be increased in patients whose ophthalmoplegia does not match a particular set of cranial nerve palsies (<a href="/wiki/Oculomotor_nerve_palsy" title="Oculomotor nerve palsy">oculomotor nerve palsy</a>, <a href="/wiki/Fourth_nerve_palsy" title="Fourth nerve palsy">fourth nerve palsy</a>, <a href="/wiki/Sixth_nerve_palsy" title="Sixth nerve palsy">sixth nerve palsy</a>). Initially, imaging studies are often performed to rule out more common pathologies. Diagnosis may be confirmed with muscle biopsy, and may be supplemented with <a href="/wiki/Polymerase_chain_reaction" title="Polymerase chain reaction">PCR</a> determination of mtDNA mutations.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (August 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Biopsy_findings">Biopsy findings</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=8" title="Edit section: Biopsy findings"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>It is not necessary to biopsy an ocular muscle to demonstrate histopathologic abnormalities. Cross-section of muscle fibers stained with <a href="/wiki/G%C3%B6m%C3%B6ri_trichrome_stain" title="Gömöri trichrome stain">Gömöri trichrome stain</a> is viewed using <a href="/wiki/Light_microscopy" class="mw-redirect" title="Light microscopy">light microscopy</a>. In muscle fibers containing high ratios of the mutated mitochondria, there is a higher concentration of mitochondria. This gives these fibers a darker red color, causing the overall appearance of the biopsy to be described as "<a href="/wiki/Ragged_red_fibers" class="mw-redirect" title="Ragged red fibers">ragged red fibers</a>. Abnormalities may also be demonstrated in muscle biopsy samples using other histochemical studies such as mitochondrial enzyme stains, by electron microscopy, biochemical analyses of the muscle tissue (ie electron transport chain enzyme activities), and by analysis of muscle mitochondrial DNA."<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Laboratory_studies">Laboratory studies</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=9" title="Edit section: Laboratory studies"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Blood <a href="/wiki/Lactic_acid" title="Lactic acid">lactate</a> and <a href="/wiki/Pyruvic_acid" title="Pyruvic acid">pyruvate</a> levels usually are elevated as a result of increased <a href="/wiki/Anaerobic_metabolism" class="mw-redirect" title="Anaerobic metabolism">anaerobic metabolism</a> and a decreased ratio of <a href="/wiki/Adenosine_triphosphate" title="Adenosine triphosphate">ATP</a>:<a href="/wiki/Adenosine_diphosphate" title="Adenosine diphosphate">ADP</a>. CSF analysis shows an elevated protein level, usually >100 mg/dl, as well as an elevated lactate level.<sup id="cite_ref-EMed950897_9-2" class="reference"><a href="#cite_note-EMed950897-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Management">Management</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Kearns%E2%80%93Sayre_syndrome&action=edit&section=10" title="Edit section: Management"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Currently there is no curative treatment for KSS. Because it is a rare condition, there are only case reports of treatments with very little data to support their effectiveness. Several promising discoveries have been reported which may support the discovery of new treatments with further research. Satellite cells are responsible for muscle fiber regeneration. It has been noted that mutant mtDNA is rare or undetectable in <a href="/wiki/Myosatellite_cell" title="Myosatellite cell">satellite cells</a> cultured from patients with KSS. Shoubridge et al. (1997) asked the question whether wildtype mtDNA could be restored to muscle tissue by encouraging muscle regeneration. In the forementioned study, regenerating muscle fibers were sampled at the original biopsy site, and it was found that they were essentially homoplasmic for wildtype mtDNA.<sup id="cite_ref-Shoubridge97_11-1" class="reference"><a href="#cite_note-Shoubridge97-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> Perhaps with future techniques of promoting muscle cell regeneration and satellite cell proliferation, functional status in KSS patients could be greatly improved.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p><p>One study described a patient with KSS who had reduced serum levels of <a href="/wiki/Coenzyme_Q10" title="Coenzyme Q10">coenzyme Q<sub>10</sub></a>. Administration of 60–120 mg of coenzyme Q<sub>10</sub> for three months resulted in normalization of <a href="/wiki/Lactic_acid" title="Lactic acid">lactate</a> and <a href="/wiki/Pyruvic_acid" title="Pyruvic acid">pyruvate</a> levels, improvement of previously diagnosed <a href="/wiki/First_degree_AV_block" class="mw-redirect" title="First degree AV block">first degree AV block</a>, and improvement of ocular movements.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p><p>A screening ECG is recommended in all patients presenting with CPEO. In KSS, implantation of <a href="/wiki/Artificial_pacemaker" class="mw-redirect" title="Artificial pacemaker">pacemaker</a> is advised following the development of significant conduction disease, even in asymptomatic patients.<sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p><p>Screening for endocrinologic disorders should be performed, including measuring <a href="/wiki/Blood_sugar" class="mw-redirect" title="Blood sugar">serum glucose levels</a>, <a href="/wiki/Thyroid_function_tests" title="Thyroid function tests">thyroid function tests</a>, calcium and magnesium levels, and serum <a href="/wiki/Electrolyte" title="Electrolyte">electrolyte</a> levels. <a href="/wiki/Hyperaldosteronism" title="Hyperaldosteronism">Hyperaldosteronism</a> is seen in 3% of KSS patients.<sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p><p>In December 2022 researchers reported a study with modest results in five patients affected by either <a href="/wiki/Pearson_syndrome" title="Pearson syndrome">Pearson syndrome</a> or Kearns–Sayre syndrome.<sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </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=Kearns%E2%80%93Sayre_syndrome&action=edit&section=11" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The triad of CPEO, bilateral pigmentary retinopathy, and cardiac conduction abnormalities was first described in a case report of two patients in 1958 by Thomas P. Kearns (1922–2011), MD., and George Pomeroy Sayre (1911–1992), MD.<sup id="cite_ref-22" class="reference"><a href="#cite_note-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> A second case was published in 1960 by Jager and co-authors reporting these symptoms in a 13-year-old boy.<sup id="cite_ref-23" class="reference"><a href="#cite_note-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> Previous cases of patients with CPEO dying suddenly had been published, occasionally documented as from a cardiac dysrhythmia. Other cases had noted a peculiar pigmentation of the retina, but none of these publications had documented these three pathologies occurring together as a genetic syndrome.<sup id="cite_ref-Kearns65_24-0" class="reference"><a href="#cite_note-Kearns65-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> Kearns published a defining case in 1965 describing nine unrelated cases with this triad.<sup id="cite_ref-Kearns65_24-1" class="reference"><a href="#cite_note-Kearns65-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> In 1988, the first connection was made between KSS and large-scale deletions of muscle <a href="/wiki/Mitochondrial_DNA" title="Mitochondrial DNA">mitochondrial DNA</a> (abbreviated mtDNA)<sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-26" class="reference"><a href="#cite_note-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> Since this discovery, numerous deletions in mitochondrial DNA have been linked to the development of KSS.<sup id="cite_ref-27" class="reference"><a href="#cite_note-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-28" class="reference"><a href="#cite_note-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> </p> <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=Kearns%E2%80%93Sayre_syndrome&action=edit&section=12" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></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 id="CITEREFHarveyBarnett1992" class="citation journal cs1">Harvey, J. N.; Barnett, D. (July 1992). "Endocrine dysfunction in Kearns-Sayre syndrome". <i>Clinical Endocrinology</i>. <b>37</b> (1): 97–104. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1111%2Fj.1365-2265.1992.tb02289.x">10.1111/j.1365-2265.1992.tb02289.x</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/1424198">1424198</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:24560049">24560049</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Clinical+Endocrinology&rft.atitle=Endocrine+dysfunction+in+Kearns-Sayre+syndrome&rft.volume=37&rft.issue=1&rft.pages=97-104&rft.date=1992-07&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A24560049%23id-name%3DS2CID&rft_id=info%3Apmid%2F1424198&rft_id=info%3Adoi%2F10.1111%2Fj.1365-2265.1992.tb02289.x&rft.aulast=Harvey&rft.aufirst=J.+N.&rft.au=Barnett%2C+D.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AKearns%E2%80%93Sayre+syndrome" 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="CITEREFKEARNS_TPSAYRE_GP1958" class="citation journal cs1">KEARNS TP; SAYRE GP (1958). <a rel="nofollow" class="external text" href="https://jamanetwork.com/journals/jamaophthalmology/article-abstract/625530">"Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block Unusual Syndrome with Histologic Study in One of Two Cases"</a>. <i>A.M.A. Archives of Ophthalmology</i>. <b>60</b> (2): 280–289. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Farchopht.1958.00940080296016">10.1001/archopht.1958.00940080296016</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/13558799">13558799</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=A.M.A.+Archives+of+Ophthalmology&rft.atitle=Retinitis+Pigmentosa%2C+External+Ophthalmoplegia%2C+and+Complete+Heart+Block+Unusual+Syndrome+with+Histologic+Study+in+One+of+Two+Cases&rft.volume=60&rft.issue=2&rft.pages=280-289&rft.date=1958&rft_id=info%3Adoi%2F10.1001%2Farchopht.1958.00940080296016&rft_id=info%3Apmid%2F13558799&rft.au=KEARNS+TP&rft.au=SAYRE+GP&rft_id=https%3A%2F%2Fjamanetwork.com%2Fjournals%2Fjamaophthalmology%2Farticle-abstract%2F625530&rfr_id=info%3Asid%2Fen.wikipedia.org%3AKearns%E2%80%93Sayre+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-auto-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-auto_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-auto_3-1"><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="CITEREFBirtelvon_LandenbergGliemGliem2022" class="citation journal cs1">Birtel, Johannes; von Landenberg, Christina; Gliem, Martin; Gliem, Carla; Reimann, Jens; Kunz, Wolfram S.; Herrmann, Philipp; Betz, Christian; Caswell, Richard; Nesbitt, Victoria; Kornblum, Cornelia; Charbel Issa, Peter (2022). <a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.oret.2021.02.017">"Mitochondrial Retinopathy"</a>. <i>Ophthalmology Retina</i>. <b>6</b> (1): 65–79. <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.oret.2021.02.017">10.1016/j.oret.2021.02.017</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/34257060">34257060</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:235822866">235822866</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Ophthalmology+Retina&rft.atitle=Mitochondrial+Retinopathy&rft.volume=6&rft.issue=1&rft.pages=65-79&rft.date=2022&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A235822866%23id-name%3DS2CID&rft_id=info%3Apmid%2F34257060&rft_id=info%3Adoi%2F10.1016%2Fj.oret.2021.02.017&rft.aulast=Birtel&rft.aufirst=Johannes&rft.au=von+Landenberg%2C+Christina&rft.au=Gliem%2C+Martin&rft.au=Gliem%2C+Carla&rft.au=Reimann%2C+Jens&rft.au=Kunz%2C+Wolfram+S.&rft.au=Herrmann%2C+Philipp&rft.au=Betz%2C+Christian&rft.au=Caswell%2C+Richard&rft.au=Nesbitt%2C+Victoria&rft.au=Kornblum%2C+Cornelia&rft.au=Charbel+Issa%2C+Peter&rft_id=https%3A%2F%2Fdoi.org%2F10.1016%252Fj.oret.2021.02.017&rfr_id=info%3Asid%2Fen.wikipedia.org%3AKearns%E2%80%93Sayre+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Ref-1-4"><span class="mw-cite-backlink">^ <a href="#cite_ref-Ref-1_4-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Ref-1_4-1"><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="CITEREFMiller,_Neil_R.Newman,_Nancy_J.2007" class="citation book cs1">Miller, Neil R.; 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"Kearns-Sayre Syndrome with Muscle Mitochondrial DNA Deletion". <i>The Lancet</i>. <b>331</b> (8590): 885. <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%2FS0140-6736%2888%2991632-7">10.1016/S0140-6736(88)91632-7</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/2895391">2895391</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:6811844">6811844</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Lancet&rft.atitle=Kearns-Sayre+Syndrome+with+Muscle+Mitochondrial+DNA+Deletion&rft.volume=331&rft.issue=8590&rft.pages=885&rft.date=1988&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A6811844%23id-name%3DS2CID&rft_id=info%3Apmid%2F2895391&rft_id=info%3Adoi%2F10.1016%2FS0140-6736%2888%2991632-7&rft.aulast=Lestienne&rft.aufirst=Patrick&rft.au=Ponsot%2C+G%C3%A9rard&rfr_id=info%3Asid%2Fen.wikipedia.org%3AKearns%E2%80%93Sayre+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-27"><span class="mw-cite-backlink"><b><a href="#cite_ref-27">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFZevianiMoraesDimauroNakase1988" class="citation journal cs1">Zeviani, M.; Moraes, C. T.; Dimauro, S.; Nakase, H.; Bonilla, E.; Schon, E. A.; Rowland, L. P. (1988). "Deletions of mitochondrial DNA in Kearns-Sayre syndrome". <i>Neurology</i>. <b>38</b> (9): 1339–1346. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1212%2Fwnl.38.9.1339">10.1212/wnl.38.9.1339</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/3412580">3412580</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:30046555">30046555</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Neurology&rft.atitle=Deletions+of+mitochondrial+DNA+in+Kearns-Sayre+syndrome&rft.volume=38&rft.issue=9&rft.pages=1339-1346&rft.date=1988&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A30046555%23id-name%3DS2CID&rft_id=info%3Apmid%2F3412580&rft_id=info%3Adoi%2F10.1212%2Fwnl.38.9.1339&rft.aulast=Zeviani&rft.aufirst=M.&rft.au=Moraes%2C+C.+T.&rft.au=Dimauro%2C+S.&rft.au=Nakase%2C+H.&rft.au=Bonilla%2C+E.&rft.au=Schon%2C+E.+A.&rft.au=Rowland%2C+L.+P.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AKearns%E2%80%93Sayre+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-28"><span class="mw-cite-backlink"><b><a href="#cite_ref-28">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLertritImsumranKarnkirawattanaDevahasdin1999" class="citation journal cs1">Lertrit, P.; Imsumran, A.; Karnkirawattana, P.; Devahasdin, V.; Sangruchi, T.; Atchaneeyasakul, L.; Mungkornkarn, C.; Neungton, N. (1999). <a rel="nofollow" class="external text" href="https://web.archive.org/web/20000929191844/http://link.springer.de/link/service/journals/00439/bibs/9105001/91050127.htm">"A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome"</a>. <i>Human Genetics</i>. <b>105</b> (1–2): 127–131. <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%2Fs004390051074">10.1007/s004390051074</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10480366">10480366</a>. Archived from <a rel="nofollow" class="external text" href="http://link.springer.de/link/service/journals/00439/bibs/9105001/91050127.htm">the original</a> on 2000-09-29.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Human+Genetics&rft.atitle=A+unique+3.5-kb+deletion+of+the+mitochondrial+genome+in+Thai+patients+with+Kearns-Sayre+syndrome&rft.volume=105&rft.issue=1%E2%80%932&rft.pages=127-131&rft.date=1999&rft_id=info%3Adoi%2F10.1007%2Fs004390051074&rft_id=info%3Apmid%2F10480366&rft.aulast=Lertrit&rft.aufirst=P.&rft.au=Imsumran%2C+A.&rft.au=Karnkirawattana%2C+P.&rft.au=Devahasdin%2C+V.&rft.au=Sangruchi%2C+T.&rft.au=Atchaneeyasakul%2C+L.&rft.au=Mungkornkarn%2C+C.&rft.au=Neungton%2C+N.&rft_id=http%3A%2F%2Flink.springer.de%2Flink%2Fservice%2Fjournals%2F00439%2Fbibs%2F9105001%2F91050127.htm&rfr_id=info%3Asid%2Fen.wikipedia.org%3AKearns%E2%80%93Sayre+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-29"><span class="mw-cite-backlink"><b><a href="#cite_ref-29">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSogaUenoYorifuji1993" class="citation journal cs1">Soga, F.; Ueno, S.; Yorifuji, S. (September 1993). "Deletions of mitochondrial DNA in Kearns-Sayre syndrome". <i>Nihon Rinsho. Japanese Journal of Clinical Medicine</i>. <b>51</b> (9): 2386–2390. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/8411717">8411717</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nihon+Rinsho.+Japanese+Journal+of+Clinical+Medicine&rft.atitle=Deletions+of+mitochondrial+DNA+in+Kearns-Sayre+syndrome&rft.volume=51&rft.issue=9&rft.pages=2386-2390&rft.date=1993-09&rft_id=info%3Apmid%2F8411717&rft.aulast=Soga&rft.aufirst=F.&rft.au=Ueno%2C+S.&rft.au=Yorifuji%2C+S.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AKearns%E2%80%93Sayre+syndrome" class="Z3988"></span></span> </li> </ol></div></div> <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=Kearns%E2%80%93Sayre_syndrome&action=edit&section=13" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><i><a rel="nofollow" class="external text" href="https://www.ninds.nih.gov/health-information/disorders/kearns-sayre-syndrome">Kearns Sayre syndrome</a></i> at <a href="/wiki/National_Institute_of_Neurological_Disorders_and_Stroke" title="National Institute of Neurological Disorders and Stroke">NINDS</a></li> <li><a rel="nofollow" class="external text" href="https://rarediseases.info.nih.gov/diseases/6817/disease">Kearns Sayre syndrome</a> at <a href="/wiki/National_Institutes_of_Health" title="National Institutes of Health">NIH</a>'s Office of <a href="/wiki/Rare_disease" title="Rare disease">Rare Diseases</a></li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid 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dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q2605012" class="extiw" title="d:Q2605012">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#/H49.8">H49.8</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/ICD-10-CM" title="ICD-10-CM">10-CM</a></b>: <a rel="nofollow" class="external text" href="https://icd10cmtool.cdc.gov/?fy=FY2024&query=H49.81">H49.81</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=277.87">277.87</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/530000">530000</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=D007625">D007625</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/ddb7137.htm">7137</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/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/950897-overview">article/950897</a></li><li><b><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1203/">Mitochondrial DNA Deletion Syndromes</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480">480</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"></div><div role="navigation" class="navbox" aria-labelledby="Mitochondrial_diseases" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><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 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href="/wiki/Template:Mitochondrial_diseases" title="Template:Mitochondrial diseases"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Mitochondrial_diseases" title="Template talk:Mitochondrial diseases"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Mitochondrial_diseases" title="Special:EditPage/Template:Mitochondrial diseases"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Mitochondrial_diseases" style="font-size:114%;margin:0 4em"><a href="/wiki/Mitochondrial_disease" title="Mitochondrial disease">Mitochondrial diseases</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Inborn_errors_of_carbohydrate_metabolism" title="Inborn errors of carbohydrate metabolism">Carbohydrate metabolism</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Pyruvate_carboxylase_deficiency" title="Pyruvate carboxylase deficiency">PCD</a></li> <li><a href="/wiki/Pyruvate_dehydrogenase_deficiency" title="Pyruvate dehydrogenase deficiency">PDHA</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Primarily <a href="/wiki/Nervous_system" title="Nervous system">nervous system</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Leigh_syndrome" title="Leigh syndrome">Leigh disease</a></li> <li><a href="/wiki/Leber%27s_hereditary_optic_neuropathy" title="Leber's hereditary optic neuropathy">LHON</a></li> <li><a href="/wiki/Neuropathy,_ataxia,_and_retinitis_pigmentosa" title="Neuropathy, ataxia, and retinitis pigmentosa">NARP</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Mitochondrial_myopathy" title="Mitochondrial myopathy">Myopathies</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a class="mw-selflink selflink">KSS</a></li> <li><i><a href="/wiki/Mitochondrial_encephalomyopathy" title="Mitochondrial encephalomyopathy">Mitochondrial encephalomyopathy</a></i> <ul><li><a href="/wiki/MELAS_syndrome" title="MELAS syndrome">MELAS</a></li> <li><a href="/wiki/MERRF_syndrome" title="MERRF syndrome">MERRF</a></li></ul></li> <li><a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">CPEO</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">No primary system</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Diabetes_and_deafness" title="Diabetes and deafness">DAD</a></li> <li><a href="/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome" title="Mitochondrial neurogastrointestinal encephalopathy syndrome">MNGIE</a></li> <li><a href="/wiki/Pearson_syndrome" title="Pearson syndrome">Pearson syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Chromosomal</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Dynamin-like_120_kDa_protein" title="Dynamin-like 120 kDa protein">OPA1</a></i> <ul><li><a href="/wiki/Kjer%27s_optic_neuropathy" title="Kjer's optic neuropathy">Kjer's optic neuropathy</a></li></ul></li> <li><i><a href="/wiki/SARS2" title="SARS2">SARS2</a></i> <ul><li><a href="/wiki/HUPRA_syndrome" title="HUPRA syndrome">HUPRA syndrome</a></li></ul></li> <li><i><a href="/wiki/TIMM8A" title="TIMM8A">TIMM8A</a></i> <ul><li><a href="/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome" title="Mohr–Tranebjærg syndrome">Mohr–Tranebjærg syndrome</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2" style="padding:0px;"><div><i>see also <a href="/wiki/Template:Mitochondrial_proteins" title="Template:Mitochondrial proteins">mitochondrial proteins</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"><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"><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: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's superficial punctate keratopathy">Thygeson's superficial punctate keratopathy</a></li> <li><a href="/wiki/Corneal_dystrophy" title="Corneal dystrophy">Corneal dystrophy</a> <ul><li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs'</a></li> <li><a href="/wiki/Meesmann_corneal_dystrophy" title="Meesmann corneal dystrophy">Meesmann</a></li></ul></li> <li><a href="/wiki/Corneal_ectatic_disorders" title="Corneal ectatic disorders">Corneal ectasia</a> <ul><li><a href="/wiki/Keratoconus" title="Keratoconus">Keratoconus</a></li> <li><a href="/wiki/Pellucid_marginal_degeneration" title="Pellucid marginal degeneration">Pellucid marginal degeneration</a></li> <li><a href="/wiki/Keratoglobus" title="Keratoglobus">Keratoglobus</a></li> <li><a href="/wiki/Terrien%27s_marginal_degeneration" title="Terrien's marginal degeneration">Terrien's marginal degeneration</a></li> <li><a href="/wiki/Post-LASIK_ectasia" title="Post-LASIK ectasia">Post-LASIK ectasia</a></li></ul></li> <li><a href="/wiki/Keratoconjunctivitis" title="Keratoconjunctivitis">Keratoconjunctivitis</a> <ul><li><a href="/wiki/Keratoconjunctivitis_sicca" class="mw-redirect" title="Keratoconjunctivitis sicca">sicca</a></li></ul></li> <li><a href="/wiki/Corneal_opacity" title="Corneal opacity">Corneal opacity</a></li> <li><a href="/wiki/Corneal_neovascularization" title="Corneal neovascularization">Corneal neovascularization</a></li> <li><a href="/wiki/Kayser%E2%80%93Fleischer_ring" title="Kayser–Fleischer ring">Kayser–Fleischer ring</a></li> <li><a href="/wiki/Haab%27s_striae" title="Haab's striae">Haab's striae</a></li> <li><a href="/wiki/Arcus_senilis" title="Arcus senilis">Arcus senilis</a></li> <li><a href="/wiki/Band_keratopathy" title="Band keratopathy">Band keratopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Uvea" title="Uvea">Vascular tunic</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><div class="hlist"><ul><li><a href="/wiki/Iris_(anatomy)" title="Iris (anatomy)">Iris</a></li><li><a href="/wiki/Ciliary_body" title="Ciliary body">Ciliary body</a></li></ul></div></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Uveitis" title="Uveitis">Uveitis</a></li> <li><a href="/wiki/Intermediate_uveitis" title="Intermediate uveitis">Intermediate uveitis</a></li> <li><a href="/wiki/Hyphema" title="Hyphema">Hyphema</a></li> <li><a href="/wiki/Rubeosis_iridis" title="Rubeosis iridis">Rubeosis iridis</a></li> <li><a href="/wiki/Persistent_pupillary_membrane" title="Persistent pupillary membrane">Persistent pupillary membrane</a></li> <li><a href="/wiki/Iridodialysis" title="Iridodialysis">Iridodialysis</a></li> <li><a href="/wiki/Synechia_(eye)" title="Synechia (eye)">Synechia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Choroid" title="Choroid">Choroid</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Choroideremia" title="Choroideremia">Choroideremia</a></li> <li><a href="/wiki/Choroiditis" class="mw-redirect" title="Choroiditis">Choroiditis</a> <ul><li><a href="/wiki/Chorioretinitis" title="Chorioretinitis">Chorioretinitis</a></li></ul></li> <li><a href="/wiki/Focal_choroidal_excavation" title="Focal choroidal excavation">Focal choroidal excavation</a></li> <li><a href="/wiki/Polypoidal_choroidal_vasculopathy" title="Polypoidal choroidal vasculopathy">Polypoidal choroidal vasculopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lens_(anatomy)" class="mw-redirect" title="Lens (anatomy)">Lens</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cataract" title="Cataract">Cataract</a> <ul><li><a href="/wiki/Congenital_cataract" title="Congenital cataract">Congenital cataract</a></li> <li><a href="/wiki/Childhood_cataract" title="Childhood cataract">Childhood cataract</a></li></ul></li> <li><a href="/wiki/Aphakia" title="Aphakia">Aphakia</a></li> <li><a href="/wiki/Ectopia_lentis" title="Ectopia lentis">Ectopia lentis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Retinal_disease" class="mw-redirect" title="Retinal disease">Retina</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Retinitis" title="Retinitis">Retinitis</a> <ul><li><a href="/wiki/Chorioretinitis" title="Chorioretinitis">Chorioretinitis</a></li> <li><a href="/wiki/Cytomegalovirus_retinitis" title="Cytomegalovirus retinitis">Cytomegalovirus retinitis</a></li></ul></li> <li><a href="/wiki/Retinal_detachment" title="Retinal detachment">Retinal detachment</a> <ul><li><a href="/wiki/Posterior_vitreous_detachment" title="Posterior vitreous detachment">Posterior vitreous detachment</a></li></ul></li> <li><a href="/wiki/Retinoschisis" title="Retinoschisis">Retinoschisis</a></li> <li><a href="/wiki/Ocular_ischemic_syndrome" title="Ocular ischemic syndrome">Ocular ischemic syndrome</a> / <a href="/wiki/Central_retinal_vein_occlusion" title="Central retinal vein occlusion">Central retinal vein occlusion</a></li> <li><a href="/wiki/Central_retinal_artery_occlusion" title="Central retinal artery occlusion">Central retinal artery occlusion</a></li> <li><a href="/wiki/Branch_retinal_artery_occlusion" title="Branch retinal artery occlusion">Branch retinal artery occlusion</a></li> <li><a href="/wiki/Retinopathy" title="Retinopathy">Retinopathy</a> <ul><li><a href="/wiki/Diabetic_retinopathy" title="Diabetic retinopathy">diabetic</a></li> <li><a href="/wiki/Hypertensive_retinopathy" title="Hypertensive retinopathy">hypertensive</a></li> <li><a href="/wiki/Purtscher%27s_retinopathy" title="Purtscher's retinopathy">Purtscher's</a></li> <li><a href="/wiki/Retinopathy_of_prematurity" title="Retinopathy of prematurity">of prematurity</a></li> <li><a href="/wiki/Bietti%27s_crystalline_dystrophy" title="Bietti's crystalline dystrophy">Bietti's crystalline dystrophy</a></li> <li><a href="/wiki/Coats%27_disease" title="Coats' disease">Coats' disease</a></li> <li><a href="/wiki/Sickle_cell_retinopathy" title="Sickle cell retinopathy">Sickle cell</a></li> <li><a href="/wiki/Photic_retinopathy" title="Photic retinopathy">photic</a></li></ul></li> <li><a href="/wiki/Macular_degeneration" title="Macular degeneration">Macular degeneration</a></li> <li><a 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's congenital amaurosis">Leber's congenital amaurosis</a></li> <li><a href="/wiki/Birdshot_chorioretinopathy" title="Birdshot chorioretinopathy">Birdshot chorioretinopathy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Glaucoma" title="Glaucoma">Glaucoma</a> / <a href="/wiki/Ocular_hypertension" title="Ocular hypertension">Ocular hypertension</a> / <a href="/wiki/Primary_juvenile_glaucoma" 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's hereditary optic neuropathy">Leber's hereditary optic neuropathy</a></li> <li><a href="/wiki/Ocular_hypotony" title="Ocular hypotony">Ocular hypotony</a></li> <li><a href="/wiki/Red_eye_(medicine)" title="Red eye (medicine)">Red eye</a></li> <li><a href="/wiki/Globe_rupture" title="Globe rupture">Globe rupture</a></li> <li><a href="/wiki/Fungal_keratitis" title="Fungal keratitis">Keratomycosis</a></li> <li><a href="/wiki/Phthisis_bulbi" title="Phthisis bulbi">Phthisis bulbi</a></li> <li><a href="/wiki/Persistent_fetal_vasculature" title="Persistent fetal vasculature">Persistent fetal vasculature</a></li> <li><a href="/wiki/Persistent_tunica_vasculosa_lentis" title="Persistent tunica vasculosa lentis">Persistent tunica vasculosa lentis</a></li> <li><a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy</a></li> <li><a href="/wiki/Vogt-Koyanagi-Harada_disease" class="mw-redirect" title="Vogt-Koyanagi-Harada disease">Vogt-Koyanagi-Harada disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="Pathways" style="font-size:114%;margin:0 4em"><a href="/wiki/Visual_system" title="Visual system">Pathways</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Optic_nerve" title="Optic nerve">Optic nerve</a><br /><a href="/wiki/Optic_disc" title="Optic disc">Optic disc</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Optic_neuritis" title="Optic neuritis">Optic neuritis</a> <ul><li><a href="/wiki/Optic_papillitis" title="Optic papillitis">optic papillitis</a></li></ul></li> <li><a href="/wiki/Papilledema" title="Papilledema">Papilledema</a> <ul><li><a href="/wiki/Foster_Kennedy_syndrome" title="Foster Kennedy syndrome">Foster Kennedy syndrome</a></li></ul></li> <li><a href="/wiki/Optic_atrophy" class="mw-redirect" title="Optic atrophy">Optic atrophy</a></li> <li><a href="/wiki/Optic_disc_drusen" title="Optic disc drusen">Optic disc drusen</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Optic_neuropathy" title="Optic neuropathy">Optic neuropathy</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ischemic_optic_neuropathy" title="Ischemic optic neuropathy">Ischemic</a> <ul><li><a href="/wiki/Anterior_ischemic_optic_neuropathy" title="Anterior ischemic optic neuropathy">anterior (AION)</a></li> <li><a href="/wiki/Posterior_ischemic_optic_neuropathy" title="Posterior ischemic optic neuropathy">posterior (PION)</a></li> <li><a href="/wiki/Arteritic_anterior_ischemic_optic_neuropathy" title="Arteritic anterior ischemic optic neuropathy">arteritic anterior (AAION or arteritic AION)</a></li> <li><a href="/wiki/Non-arteritic_anterior_ischemic_optic_neuropathy" title="Non-arteritic anterior ischemic optic neuropathy">non-arteritic anterior (NAION)</a></li></ul></li> <li><a href="/wiki/Kjer%27s_optic_neuropathy" title="Kjer's optic neuropathy">Kjer's</a></li> <li><a href="/wiki/Leber%27s_hereditary_optic_neuropathy" title="Leber's hereditary optic neuropathy">Leber's hereditary</a></li> <li><a href="/wiki/Toxic_and_nutritional_optic_neuropathy" title="Toxic and nutritional optic neuropathy">Toxic and nutritional</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Strabismus" title="Strabismus">Strabismus</a><br /><a href="/wiki/Extraocular_muscles" title="Extraocular muscles">Extraocular muscles</a><br /><a href="/wiki/Binocular_vision" title="Binocular vision">Binocular vision</a><br /><a href="/wiki/Accommodation_(eye)" class="mw-redirect" title="Accommodation (eye)">Accommodation</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Paralytic_strabismus" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Strabismus#Paralytic_strabismus" title="Strabismus">Paralytic strabismus</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ophthalmoparesis" title="Ophthalmoparesis">Ophthalmoparesis</a></li> <li><a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">Chronic progressive external ophthalmoplegia</a></li> <li><a class="mw-selflink selflink">Kearns–Sayre syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cranial_nerve_disease" title="Cranial nerve disease">palsies</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Oculomotor_nerve_palsy" title="Oculomotor nerve palsy">Oculomotor (III)</a></li> <li><a href="/wiki/Fourth_nerve_palsy" title="Fourth nerve palsy">Fourth-nerve (IV)</a></li> <li><a href="/wiki/Sixth_nerve_palsy" title="Sixth nerve palsy">Sixth-nerve (VI)</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Strabismus#Other_strabismus" title="Strabismus">Other strabismus</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Esotropia" title="Esotropia">Esotropia</a> / <a href="/wiki/Exotropia" title="Exotropia">Exotropia</a></li> <li><a href="/wiki/Hypertropia" title="Hypertropia">Hypertropia</a></li> <li><a href="/wiki/Heterophoria" title="Heterophoria">Heterophoria</a> <ul><li><a href="/wiki/Esophoria" title="Esophoria">Esophoria</a></li> <li><a href="/wiki/Exophoria" title="Exophoria">Exophoria</a></li></ul></li> <li><a href="/wiki/Cyclotropia" title="Cyclotropia">Cyclotropia</a></li> <li><a href="/wiki/Brown%27s_syndrome" title="Brown's syndrome">Brown's syndrome</a></li> <li><a href="/wiki/Duane_syndrome" title="Duane syndrome">Duane syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other binocular</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Conjugate_gaze_palsy" title="Conjugate gaze palsy">Conjugate gaze palsy</a></li> <li><a href="/wiki/Convergence_insufficiency" title="Convergence insufficiency">Convergence insufficiency</a></li> <li><a href="/wiki/Internuclear_ophthalmoplegia" title="Internuclear ophthalmoplegia">Internuclear ophthalmoplegia</a></li> <li><a href="/wiki/One_and_a_half_syndrome" title="One and a half syndrome">One and a half syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Refraction" title="Refraction">Refraction</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Refractive_error" title="Refractive error">Refractive error</a> <ul><li><a href="/wiki/Far-sightedness" class="mw-redirect" title="Far-sightedness">Hyperopia</a></li> <li><a href="/wiki/Near-sightedness" class="mw-redirect" title="Near-sightedness">Myopia</a></li></ul></li> <li><a href="/wiki/Astigmatism" title="Astigmatism">Astigmatism</a></li> <li><a href="/wiki/Anisometropia" title="Anisometropia">Anisometropia</a> / <a href="/wiki/Aniseikonia" title="Aniseikonia">Aniseikonia</a></li> <li><a href="/wiki/Presbyopia" title="Presbyopia">Presbyopia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Vision_disorder" title="Vision disorder">Vision disorders</a><br /><a href="/wiki/Blindness" class="mw-redirect" title="Blindness">Blindness</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><td colspan="2" class="navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Amblyopia" title="Amblyopia">Amblyopia</a></li> <li><a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis</a></li> <li><a href="/wiki/Diplopia" title="Diplopia">Diplopia</a></li> <li><a href="/wiki/Scotoma" title="Scotoma">Scotoma</a></li> <li><a href="/wiki/Color_blindness" title="Color blindness">Color blindness</a> <ul><li><a href="/wiki/Achromatopsia" title="Achromatopsia">Achromatopsia</a></li> <li><a href="/wiki/Dichromacy" title="Dichromacy">Dichromacy</a></li> <li><a href="/wiki/Monochromacy" title="Monochromacy">Monochromacy</a></li></ul></li> <li><a href="/wiki/Nyctalopia" title="Nyctalopia">Nyctalopia</a> <ul><li><a href="/wiki/Oguchi_disease" title="Oguchi disease">Oguchi disease</a></li></ul></li> <li><a href="/wiki/Blindness" class="mw-redirect" title="Blindness">Blindness</a> / <a href="/wiki/Vision_loss" class="mw-redirect" title="Vision loss">Vision loss</a> / <a href="/wiki/Visual_impairment" title="Visual impairment">Visual impairment</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Anopsia" title="Anopsia">Anopsia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hemianopsia" title="Hemianopsia">Hemianopsia</a> <ul><li><a href="/wiki/Binasal_hemianopsia" title="Binasal hemianopsia">binasal</a></li> <li><a href="/wiki/Bitemporal_hemianopsia" title="Bitemporal hemianopsia">bitemporal</a></li> <li><a href="/wiki/Homonymous_hemianopsia" title="Homonymous hemianopsia">homonymous</a></li></ul></li> <li><a href="/wiki/Quadrantanopia" title="Quadrantanopia">Quadrantanopia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">subjective</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Asthenopia" class="mw-redirect" title="Asthenopia">Asthenopia</a></li> <li><a href="/wiki/Hemeralopia" title="Hemeralopia">Hemeralopia</a></li> <li><a href="/wiki/Photophobia" title="Photophobia">Photophobia</a></li> <li><a href="/wiki/Scintillating_scotoma" title="Scintillating scotoma">Scintillating scotoma</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Pupil" title="Pupil">Pupil</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Anisocoria" title="Anisocoria">Anisocoria</a></li> <li><a href="/wiki/Argyll_Robertson_pupil" title="Argyll Robertson pupil">Argyll Robertson pupil</a></li> <li><a href="/wiki/Marcus_Gunn_pupil" class="mw-redirect" title="Marcus Gunn pupil">Marcus Gunn pupil</a></li> <li><a href="/wiki/Adie_syndrome" title="Adie syndrome">Adie syndrome</a></li> <li><a href="/wiki/Miosis" title="Miosis">Miosis</a></li> <li><a href="/wiki/Mydriasis" title="Mydriasis">Mydriasis</a></li> <li><a href="/wiki/Cycloplegia" title="Cycloplegia">Cycloplegia</a></li> <li><a href="/wiki/Parinaud%27s_syndrome" title="Parinaud's syndrome">Parinaud's syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Nystagmus" title="Nystagmus">Nystagmus</a></li> <li><a href="/wiki/Childhood_blindness" title="Childhood blindness">Childhood blindness</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="Infections" style="font-size:114%;margin:0 4em"><a href="/wiki/Eye_disease" title="Eye disease">Infections</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Trachoma" title="Trachoma">Trachoma</a></li> <li><a href="/wiki/Onchocerciasis" title="Onchocerciasis">Onchocerciasis</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_muscle,_neuromuscular_junction,_and_neuromuscular_disease" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Diseases_of_myoneural_junction_and_muscle" title="Template:Diseases of myoneural junction and muscle"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Diseases_of_myoneural_junction_and_muscle" title="Template talk:Diseases of myoneural junction and muscle"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Diseases_of_myoneural_junction_and_muscle" title="Special:EditPage/Template:Diseases of myoneural junction and muscle"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_muscle,_neuromuscular_junction,_and_neuromuscular_disease" style="font-size:114%;margin:0 4em">Diseases of <a href="/wiki/Muscle" title="Muscle">muscle</a>, <a href="/wiki/Neuromuscular_junction" title="Neuromuscular junction">neuromuscular junction</a>, and <a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">neuromuscular disease</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">Neuromuscular-</a><br /><a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">junction disease</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Autoimmune" class="mw-redirect" title="Autoimmune">autoimmune</a></i> <ul><li><a href="/wiki/Myasthenia_gravis" title="Myasthenia gravis">Myasthenia gravis</a></li> <li><a href="/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome" title="Lambert–Eaton myasthenic syndrome">Lambert–Eaton myasthenic syndrome</a></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a></li></ul></li> <li><a href="/wiki/Congenital_myasthenic_syndrome" title="Congenital myasthenic syndrome">Congenital myasthenic syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myopathy" title="Myopathy">Myopathy</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" 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/Muscular_dystrophy" title="Muscular dystrophy">Muscular dystrophy</a><br />(<a href="/wiki/Dystrophin-associated_protein_complex" title="Dystrophin-associated protein complex">DAPC</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/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">AD</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/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 1</a></li> <li><a href="/wiki/Oculopharyngeal_muscular_dystrophy" title="Oculopharyngeal muscular dystrophy">Oculopharyngeal</a></li> <li><a href="/wiki/Facioscapulohumeral_muscular_dystrophy" title="Facioscapulohumeral muscular dystrophy">Facioscapulohumeral</a></li> <li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic</a></li> <li><a href="/wiki/Distal_muscular_dystrophy" class="mw-redirect" title="Distal muscular dystrophy">Distal (most)</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">AR</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/Calpainopathy" title="Calpainopathy">Calpainopathy</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 2</a></li> <li><a href="/wiki/Congenital_muscular_dystrophy" title="Congenital muscular dystrophy">Congenital</a> <ul><li><a href="/wiki/Fukuyama_congenital_muscular_dystrophy" title="Fukuyama congenital muscular dystrophy">Fukuyama</a></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich</a></li> <li><a href="/wiki/Walker%E2%80%93Warburg_syndrome" title="Walker–Warburg syndrome">Walker–Warburg</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">XR</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/Dystrophin" title="Dystrophin">dystrophin</a></i> <ul><li><a href="/wiki/Becker%27s_muscular_dystrophy" class="mw-redirect" title="Becker's muscular dystrophy">Becker's</a></li> <li><a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li></ul></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other structural</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/Collagen_disease" title="Collagen disease">collagen disease</a></i> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a></li></ul></li> <li><i><a href="/wiki/Protein_tyrosine_phosphatase" title="Protein tyrosine phosphatase">PTP disease</a></i> <ul><li><a href="/wiki/X-linked_myotubular_myopathy" title="X-linked myotubular myopathy">X-linked MTM</a></li></ul></li> <li><i><a href="/wiki/Signal_transducing_adaptor_protein" title="Signal transducing adaptor protein">adaptor protein disease</a></i> <ul><li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">BIN1-linked centronuclear myopathy</a></li></ul></li> <li><i><a href="/wiki/Cytoskeleton" title="Cytoskeleton">cytoskeleton disease</a></i> <ul><li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy</a></li> <li><a href="/wiki/Zaspopathy" title="Zaspopathy">Zaspopathy</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Channelopathy" title="Channelopathy">Channelopathy</a> <ul><li>(ion channel)</li></ul></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/Myotonia" title="Myotonia">Myotonia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Myotonia_congenita" title="Myotonia congenita">Myotonia congenita</a> <ul><li><a href="/wiki/Thomsen_disease" class="mw-redirect" title="Thomsen disease">Thomsen disease</a></li> <li><a href="/wiki/Becker_disease" class="mw-redirect" title="Becker disease">Becker disease</a></li></ul></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a> <ul><li><a href="/wiki/Isaacs_syndrome" class="mw-redirect" title="Isaacs syndrome">Isaacs syndrome</a></li></ul></li> <li><a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Periodic_paralysis" title="Periodic paralysis">Periodic paralysis</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/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic</a> <ul><li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic</a></li></ul></li> <li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic</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/Central_core_disease" title="Central core disease">Central core disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ATPase disorder <ul><li>(ion pump)</li></ul></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Brody_myopathy" title="Brody myopathy">Brody disease</a> (<a href="/wiki/ATP2A1" title="ATP2A1">ATP2A1</a>)</li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_myopathy" title="Metabolic myopathy">Metabolic myopathy</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>Muscle <a href="/wiki/Glycogen_storage_disease" title="Glycogen storage disease">Glycogen storage disease</a></li> <li><a href="/wiki/Fatty-acid_metabolism_disorder" title="Fatty-acid metabolism disorder">Fatty-acid metabolism disorder</a></li> <li><a href="/wiki/Adenosine_monophosphate_deaminase_deficiency_type_1" title="Adenosine monophosphate deaminase deficiency type 1">AMPD1 deficiency</a></li> <li><a href="/wiki/Mitochondrial_myopathy" title="Mitochondrial myopathy">Mitochondrial myopathy</a> (<a href="/wiki/MELAS_syndrome" title="MELAS syndrome">MELAS</a></li> <li><a href="/wiki/MERRF_syndrome" title="MERRF syndrome">MERRF</a></li> <li><a class="mw-selflink selflink">KSS</a></li> <li><a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">PEO</a></li> <li><a href="/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome" title="Mitochondrial neurogastrointestinal encephalopathy syndrome">MNGIE</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrinopathy</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/Hypothyroid" class="mw-redirect" title="Hypothyroid">Hypothyroid</a> myopathy <ul><li><a href="/wiki/Kocher%E2%80%93Debre%E2%80%93Semelaigne_syndrome" title="Kocher–Debre–Semelaigne syndrome">Kocher–Debre–Semelaigne syndrome</a></li> <li><a href="/wiki/Hoffmann_syndrome" title="Hoffmann syndrome">Hoffmann syndrome</a></li></ul></li> <li><a href="/wiki/Hyperthyroid" class="mw-redirect" title="Hyperthyroid">Hyperthyroid</a> myopathy <ul><li><a href="/wiki/Thyrotoxic_myopathy" title="Thyrotoxic myopathy">Thyrotoxic myopathy</a></li></ul></li> <li><a href="/wiki/Hypoparathyroidism" title="Hypoparathyroidism">Hypoparathyroid myopathy</a></li> <li><a href="/wiki/Hyperparathyroidism" title="Hyperparathyroidism">Hyperparathyroid myopathy</a></li> <li><a href="/wiki/Hypercortisolism" class="mw-redirect" title="Hypercortisolism">Hypercortisolism</a> <ul><li>Corticosteroid myopathy</li></ul></li> <li>Testosterone deficiency myopathy <ul><li><a href="/wiki/Late-onset_hypogonadism" title="Late-onset hypogonadism">Late-onset hypogonadism</a></li> <li><a href="/wiki/Hypogonadotropic_hypogonadism" title="Hypogonadotropic hypogonadism">Hypogonadotropic hypogonadism</a></li> <li><a href="/wiki/Androgen_deficiency" title="Androgen deficiency">Androgen deficiency</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">General</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/Inflammatory_myopathy" title="Inflammatory myopathy">Inflammatory myopathy</a></li> <li><a href="/wiki/Congenital_myopathy" title="Congenital myopathy">Congenital myopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1&useformat=desktop" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Kearns–Sayre_syndrome&oldid=1260097679">https://en.wikipedia.org/w/index.php?title=Kearns–Sayre_syndrome&oldid=1260097679</a>"</div></div> <div id="catlinks" class="catlinks" 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