retinitis pigmentosa 87

info · Genetic

A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3.

Signs and symptoms

Spicular pigmentation of the retina
Pigmentary retinopathy
Peripheral visual field loss
Nummular pigmentation of the retina
Chorioretinal atrophy

Also known as: RP87; retinitis pigmentosa 87 with choroidal involvement