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Autosomal dominant optic atrophy and cataract

Disease definition

A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).

ORPHA:67036

  • Synonym(s):
    • Autosomal dominant optic atrophy type 3
    • OPA3, autosomal dominant
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: H47.2
  • OMIM: 165300
  • UMLS: C1833809
  • MeSH: C537128
  • GARD: 10203
  • MedDRA: -

Detailed information

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