retinitis pigmentosa 101

info · Genetic

A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12.

Signs and symptoms

Spicular pigmentation of the retina
Nyctalopia
Undetectable dark-adapted electroretinogram
Mildly reduced visual acuity
Cataract
Photophobia
Attenuation of retinal blood vessels
Chorioretinal atrophy
Retinal atrophy
Undetectable electroretinogram