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Kearns-Sayre syndrome: An unusual ophthalmic presentation
Syed S Ahmad1, Shuaibah A Ghani
1Department of Ophthalmology, Queen Elizabeth Hospital, Kota Kinabalu, 88586, Malaysia.
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.
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