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Kearns-Sayre syndrome

Disease definition

Kearns-Sayre syndrome (KSS) is a mitochondrial disease 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.

ORPHA:480

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

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.