Conditions / Genetic
congenital stationary night blindness 1C
info · Genetic
A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.
Signs and symptoms
- Reduced visual acuity
- Early-onset non-progressive night blindness
- Abnormal electroretinogram
- Myopia
- Nystagmus
- Dry skin
- Strabismus
- Abnormal skin pigmentation
Also known as: CSNB1C; congenital stationary night blindness 1C autosomal recessive