congenital stationary night blindness autosomal dominant 2

A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.

Signs and symptoms

• Early-onset non-progressive night blindness
• Moderate myopia
• Abnormal fundus morphology
• Reduced visual acuity

Also known as: CSNBAD2; Rambusch type congenital stationary night blindness