congenital stationary night blindness autosomal dominant 1

A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.

Signs and symptoms

• Early-onset non-progressive night blindness
• Spicular pigmentation of the retina
• Visual field defect
• Decreased light- and dark-adapted electroretinogram amplitude

Also known as: CSNBAD1; rhodopsin-related congenital stationary night blindness