congenital stationary night blindness 1G

A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21.

Signs and symptoms

• Constriction of peripheral visual field
• Early-onset non-progressive night blindness
• Optic disc pallor
• Rod-cone dystrophy
• Visual impairment

Also known as: CSNB1G; congenital stationary night blindness type 1G