retinitis pigmentosa 92

info · Genetic

A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22.

Signs and symptoms

Constriction of peripheral visual field
Nyctalopia
Pigmentary retinopathy
Visual impairment
Paracentral scotoma

Also known as: RP92