Conditions / Genetic
congenital stationary night blindness 1E
info · Genetic
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.
Signs and symptoms
- Early-onset non-progressive night blindness
- Nystagmus
- Visual impairment
- Strabismus
- Reduced visual acuity
- High myopia
Also known as: CSNB1E; congenital stationary night blindness 1E autosomal recessive