Conditions / Genetic
congenital stationary night blindness 1B
info ยท Genetic
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35.
Signs and symptoms
- Nyctalopia
- Early-onset non-progressive night blindness
- Myopia
- Spicular pigmentation of the retina
- Hemeralopia
- Horizontal nystagmus
Also known as: CSNB1B; autosomal recessive complete congenital stationary night blindness; congenital stationary night blindness 1B autosomal recessive