Conditions / Genetic
congenital stationary night blindness 1F
info · Genetic
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.
Signs and symptoms
- Nyctalopia
- Reduced visual acuity
- Early-onset non-progressive night blindness
- High myopia
- Strabismus
- Retinal perforation
- ERG: Reduced dark-adapted b-wave amplitude
Also known as: CSNB1F; congenital stationary night blindness 1F autosomal recessive