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Kearns-Sayre syndrome

Disease 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.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive or Not applicable or Mitochondrial inheritance 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: H49.8
  • OMIM: 530000
  • UMLS: C0022541
  • MeSH: D007625
  • GARD: 6817
  • MedDRA: 10048804

Detailed information


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