Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N

Abstract

Patients with RHO (D190N) autosomal dominant retinitis pigmentosa (adRP) can show classic signs of RP on fundus examination and may be able to maintain good central visual acuity into adulthood. By combining clinical examination with AF imaging and electrophysiology, it is possible to offer presymptomatic clinical evaluation to families with this RP.