Autosomal dominant optic atrophy and cataract

What is Autosomal dominant optic atrophy and cataract?

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 <i>OPA3</i> gene (19q13.32).

Other condition names

  • Autosomal dominant optic atrophy type 3
  • OPA3, autosomal dominant

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.