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Kearns-Sayre syndrome: An unusual ophthalmic presentation

By Syed S Ahmad and Shuaibah A Ghani

Abstract

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

Topics: Atypical pigmentary retinopathy, Kearns-Sayre syndrome, ptosis, red ragged fibers, Ophthalmology, RE1-994
Publisher: Wolters Kluwer Medknow Publications
Year: 2012
DOI identifier: 10.4103/0974-620X.99377
OAI identifier: oai:doaj.org/article:e3480c49c43f4fc893b77abb1648cc0b
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