1.
Oman Journal of Ophthalmology. 2012; 5 (2): 115-117
in English
| IMEMR
| ID: emr-133700
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