congenital stationary night blindness 1D

A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22.

Signs and symptoms

• Early-onset non-progressive night blindness
• Pigmentary retinopathy
• Macular atrophy
• Attenuation of retinal blood vessels

Also known as: CSNB1D; congenital stationary night blindness 1D autosomal recessive