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Autosomal dominant optic atrophy, classic form

Disease definition

Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy (see this term) characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.

ORPHA:98673

  • Synonym(s):
    • Autosomal dominant optic atrophy, Kjer type
    • Kjer optic atrophy
    • Optic atrophy type 1
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: H47.2
  • OMIM: 165500  605293  610708
  • UMLS: -
  • MeSH: -
  • GARD: 9890
  • MedDRA: -

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