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.

ORPHA:98890

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: -

  A summary on this disease is available in Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

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