Conditions / Genetic
achromatopsia 3
info · Genetic
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.
Signs and symptoms
- Nystagmus
- Photophobia
- Moderately reduced visual acuity
- Achromatopsia
- Monochromacy
- Cataract
- Severely reduced visual acuity
- High myopia
- Horizontal pendular nystagmus
- Dyschromatopsia
Also known as: ACHM1; ACHM3; Pingelapese blindness; RMCH1; rod monochromacy 1