Conditions / Genetic
optic atrophy 1
info · Genetic
An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
Signs and symptoms
- Tritanomaly
- Abnormal amplitude of pattern reversal visual evoked potentials
- Pallor
- Reduced visual acuity
- Visual impairment
- Optic atrophy
- Central scotoma
- Centrocecal scotoma
- Red-green dyschromatopsia
- Progressive external ophthalmoplegia
Also known as: OPA1