Orphanet: Early onset X linked optic atrophy

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Early-onset X-linked optic atrophy

Disease definition

Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.


Classification level: Disorder
  • Synonym(s):
    • Non-Leber type optic atrophy with early-onset
    • OPA2
    • Optic atrophy type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: H47.2
  • OMIM: 311050
  • UMLS: C1839576
  • MeSH: -
  • GARD: 10199
  • MedDRA: -
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