C2orf71 Retinitis Pigmentosa

A patient presents to the neuro-ophthalmology clinic for evaluation of chronic progressive vision loss over many years. There is high suspicion for a genetic disorder given findings of bilateral symmetric nerve pallor, diffuse chorioretinal atrophy, and attenuated vasculature. Genetic sequencing reveals compound heterozygous mutation in C2orf71. A diagnosis of autosomal recessive retinitis pigmentosa is made.

Presentation Date: 10/14/2021

Issue Date: 11/05/2021