A Case of Kearns-Sayre Syudrome.
- Author:
Hee Chang YANG
1
;
Woong Chul CHOI
Author Information
1. Department of Ophthalmology, St. Marys Hospital, College of Medicine, The Catholic University.
- Publication Type:Case Report
- Keywords:
Kearms-Sayer syndrome;
Mitochondrial disorder;
Ragged red fiber
- MeSH:
Biopsy;
Diagnosis;
Heart Block;
Microscopy, Electron;
Mitochondria;
Mitochondrial Diseases;
Mitochondrial Myopathies;
Ophthalmoplegia, Chronic Progressive External;
Pigmentation;
Retinaldehyde
- From:Journal of the Korean Ophthalmological Society
1999;40(3):864-868
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Kearns-Sayer syndrome, a rare mitochondrial disorder, is composed of chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block, and also causes numerous neurologic or endocrinologic symptoms. On muscle biopsy, a "ragged red fiber" was seen with Gomori trichrome stain, On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. We report a case of Kearns-Sayer syndrome we have experienced.
