Kearns-Sayre syndrome -3 case reports and review of clinical feature.
Kearns-Sayre syndrome, first described by Kearns and Sayre in 1958, is a rare disorder consisting of ptosis, limited movement of both eyes and atypical retinal pigmentary change (salt-pepper like appearance). Most cases have shown an increase in the concentration of mitochondria and ragged-red fiber under Gomori-trichrome staining on muscle biopsy. Occasionally, it is combined with other neurologic and endocrinologic symptoms such as ataxia, dementia, diabetes, and hyperaldosteronism. We recently experienced three cases of male teenaged patients who expressed the clinical features of Kearns-Sayre syndrome.
Park
Seong Bae
SB
The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 134 Shinchon-dong, Seodaemun-gu, Seoul 120-752, Korea.
Ma
Kyoung Tak
KT
Kook
Koung Hun
KH
Lee
Sang Yeul
SY
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001706:Biopsy; D001763:Blepharoptosis / Q000473:pathology*; D004585:Electrooculography; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000473:pathology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D019721:Ophthalmoscopes; D012160:Retina / Q000473:pathology*