Kearns-Sayre syndrome
ORPHA:480· ICD-10 H49.8
Definition
A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive, Mitochondrial inheritance, Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy