Conditions / Genetic
optic atrophy 7
info · Genetic
An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
Signs and symptoms
- Constriction of peripheral visual field
- Pallor
- Dyschromatopsia
- Reduced visual acuity
- Visual impairment
- Optic atrophy
- Central scotoma
- Optic disc pallor
- Strabismus
- Hypertrophic cardiomyopathy
Also known as: OPA7; optic atrophy 7 with or without auditory neuropathy