PRPF31-related retinitis pigmentosa and asymptomatic carriers
1 March 2024
| Ian Reekie
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Retina / Uvea / Vitreous
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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...