Conditions / Genetic
optic atrophy 3
info · Genetic
An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32.
Signs and symptoms
- Optic atrophy
- Scotoma
- Cataract
- Optic disc pallor
- Reduced visual acuity
- Abnormality of extrapyramidal motor function
- Tremor
- Hearing impairment
Also known as: ADOAC; OPA3; autosomal dominant optic atrophy 3; autosomal dominant optic atrophy and cataract; autosomal dominant optic atrophy type 3