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
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Include in Catalogue?: No
Presenter(s): Jason C. Fan, MD, PhD
Faculty Discussant(s): Byron L. Lam, MD; Carlos E. Mendoza Santiesteban, MD