Kearns-Sayre syndrome: An unusual ophthalmic presentation
Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction abnormaliti...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Oman Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2012;volume=5;issue=2;spage=115;epage=117;aulast=Ahmad |
| _version_ | 1811216332380700672 |
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| author | Syed S Ahmad Shuaibah A Ghani |
| author_facet | Syed S Ahmad Shuaibah A Ghani |
| author_sort | Syed S Ahmad |
| collection | DOAJ |
| description | Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction abnormalities. So far, only a single case has been reported where a patient with KSS had a normal retina. Herein, we report this extremely rare variant of KSS, which not only presented later than the normal age of presentation, but also had minimal pigmentary retinopathy. |
| first_indexed | 2024-04-12T06:37:26Z |
| format | Article |
| id | doaj.art-e3480c49c43f4fc893b77abb1648cc0b |
| institution | Directory Open Access Journal |
| issn | 0974-620X |
| language | English |
| last_indexed | 2024-04-12T06:37:26Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Oman Journal of Ophthalmology |
| spelling | doaj.art-e3480c49c43f4fc893b77abb1648cc0b2022-12-22T03:43:51ZengWolters Kluwer Medknow PublicationsOman Journal of Ophthalmology0974-620X2012-01-015211511710.4103/0974-620X.99377Kearns-Sayre syndrome: An unusual ophthalmic presentationSyed S AhmadShuaibah A GhaniKearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction abnormalities. So far, only a single case has been reported where a patient with KSS had a normal retina. Herein, we report this extremely rare variant of KSS, which not only presented later than the normal age of presentation, but also had minimal pigmentary retinopathy.http://www.ojoonline.org/article.asp?issn=0974-620X;year=2012;volume=5;issue=2;spage=115;epage=117;aulast=AhmadAtypical pigmentary retinopathyKearns-Sayre syndromeptosisred ragged fibers |
| spellingShingle | Syed S Ahmad Shuaibah A Ghani Kearns-Sayre syndrome: An unusual ophthalmic presentation Oman Journal of Ophthalmology Atypical pigmentary retinopathy Kearns-Sayre syndrome ptosis red ragged fibers |
| title | Kearns-Sayre syndrome: An unusual ophthalmic presentation |
| title_full | Kearns-Sayre syndrome: An unusual ophthalmic presentation |
| title_fullStr | Kearns-Sayre syndrome: An unusual ophthalmic presentation |
| title_full_unstemmed | Kearns-Sayre syndrome: An unusual ophthalmic presentation |
| title_short | Kearns-Sayre syndrome: An unusual ophthalmic presentation |
| title_sort | kearns sayre syndrome an unusual ophthalmic presentation |
| topic | Atypical pigmentary retinopathy Kearns-Sayre syndrome ptosis red ragged fibers |
| url | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2012;volume=5;issue=2;spage=115;epage=117;aulast=Ahmad |
| work_keys_str_mv | AT syedsahmad kearnssayresyndromeanunusualophthalmicpresentation AT shuaibahaghani kearnssayresyndromeanunusualophthalmicpresentation |