Kearns-Sayre syndrome

What is Kearns-Sayre syndrome?

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.

Inheritance type

Autosomal recessive, Mitochondrial inheritance, Not applicable

Prevalence

  • Europe: 1-9 in 100,000

Age of Onset

  • Adolescent
  • Adult
  • Childhood
  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.