Orphanet: Autosomal dominant optic atrophy, classic form
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Autosomal dominant optic atrophy, classic form

Disease definition

One of the most common forms of hereditary optic neuropathy 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

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
  • OMIM: 165500  605293  610708
  • UMLS: -
  • MeSH: -
  • GARD: 9890
  • MedDRA: -

Detailed information

Professionals

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