Conditions / Genetic
achromatopsia 7
info · Genetic
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.
Signs and symptoms
- Reduced visual acuity
- Hypoplasia of the fovea
- Photophobia
- Macular atrophy
- Achromatopsia
- Nystagmus
- Absent foveal reflex
- Central scotoma
Also known as: ACHM7