Article
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
Orphanet journal of rare diseases - 12 Mar 2021
Georgiou Michalis, Ali Naser, Yang Elizabeth, Grewal Parampal S, Rotsos Tryfon, Pontikos Nikolas, Robson Anthony G, Michaelides Michel
Abstract excerpt
PURPOSE: To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated with the disease. METHODS: Retrospective case series of LCA/EOSRD from four pedigrees. Chart review of clinical notes, multimodal retinal imaging, electrophysiology,...
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