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Autosomal dominant optic atrophy, classic form

Disease definition

A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.


Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant optic atrophy, Kjer type
    • Kjer optic atrophy
    • Optic atrophy type 1
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adult, Adolescent
  • ICD-10: H47.2
  • ICD-11: 9C40.8
  • OMIM: 165500  605293  610708  618977
  • UMLS: C0338508
  • MeSH: -
  • GARD: 9890
  • MedDRA: -

Detailed information


Disease review articles

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