retinitis pigmentosa 88

info · Genetic

A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1.

Signs and symptoms

Spicular pigmentation of the retina
Nyctalopia
Macular degeneration
Reduced visual acuity
Optic disc pallor
Attenuation of retinal blood vessels
Exotropia
Cystoid macular edema

Also known as: RP88