Conditions / Genetic
congenital stationary night blindness 1H
info · Genetic
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.
Signs and symptoms
- Nyctalopia
- Hypermetropia
- Photophobia
- Mild myopia
- Nystagmus
Also known as: CSNB1H; congenital stationary night blindness type 1H