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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

Classification level: Disorder
  • 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
  • ICD-11: 9C40.8
  • OMIM: 165300
  • UMLS: C1833809
  • MeSH: C537128
  • GARD: 10203
  • MedDRA: -

  A summary on this disease is available in Deutsch (2016) Español (2016) Français (2016) Italiano (2016) Nederlands (2016)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.