Search for a rare disease
Other search option(s)
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 OPA3 gene (19q13.32).
ORPHA:67036Classification level: Disorder
- Review article
- English (2012)