Journal Reviews

Ophthalmic Genetics cover picture

PRPF31-related retinitis pigmentosa and asymptomatic carriers

1 March 2024 | | Retina / Uvea / Vitreous | FST, PRPF31, RP11, Retinitis pigmentosa, asymptomatic carriers, non-penetrance

The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...