Article
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.
Ophthalmic genetics - 1 Apr 2025
Uner Ogul E, Elsharawi Radwa, Reynolds Margaret, Bacci Giacomo M, Bargiacchi Sara, Birch David G, Chen Fred K, Jain Nieraj, Heath Jeffery Rachael C, Lamey Tina M, Mustafi Debarshi, da Palma Mariana Matioli, Sallum Juliana Maria Ferraz, Torres Soto Mariam, Jones Kaylie, Yang Paul, Pennesi Mark E, Everett Lesley A
Abstract excerpt
INTRODUCTION: Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an X-linked gene critical for nucleotide metabolism. Pathogenic PRPS1 variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy. Multicenter phenotypic...
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