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Kearns-Sayre syndrome--a case report.
1Department of Ophthalmology, S.M.S. Hospital, Jaipur.
Indian Journal of Ophthalmology
|October 1, 1990
Summary
Kearns-Sayre Syndrome (KSS) is a rare mitochondrial disorder. This case highlights the importance of ocular and cardiac evaluations for affected families.
Area of Science:
- Genetics and rare diseases
- Ophthalmology
- Cardiology
Background:
- Kearns-Sayre Syndrome (KSS) is a rare mitochondrial disorder.
- KSS is characterized by a triad of external ophthalmoplegia, pigmentary retinal dystrophy, and cardiomyopathy.
- Diagnosis often relies on clinical presentation and genetic testing.