Abstract
Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical characteristics of these 15 patients (12 male, median age 42 years, range 8–71) from three families including visual field (Campus Goldmann), fundus autofluorescence (FAF), optical coherence tomography (OCT) and electrophysiology. Phenotypes were classified into four categories: CSNB (N = 3, 20%) sector RP (N = 3, 20%), pericentral RP (N = 1, 6.7%) and classic RP (N = 8, 53.3% (8/15)). The phenotypes were not associated with family, sex or age (Kruskal–Wallis, p > 0.05), however, cystoid macular edema (CME) was observed only in one family. Among the subjects reporting nyctalopia, 69% (22/32) were male. The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP, contrary to the previous report.
Highlights
Rhodopsin is the prototypical G protein-coupled receptor (GPCR) and a key lightsensitive protein of rod photoreceptors
We report the clinical characteristics of 15 patients from three Slovenian families, the largest p.G90D cohort so far, exhibiting four different phenotypes including a high frequency of progressive retinal degeneration, contrary to the previous report
Genetic testing confirmed a mutation in p.G90D in the rhodopsin gene (RHO) gene in all (15) tested subjects
Summary
Rhodopsin is the prototypical G protein-coupled receptor (GPCR) and a key lightsensitive protein of rod photoreceptors. Around 200 mutations in the rhodopsin gene (RHO) cause retinal diseases, in most patients in the form of retinitis pigmentosa (RP) [2,3,4,5], other phenotypes have been described, including sector RP [6], pericentral RP [7], congenital stationary night blindness (CSNB) [1,2,3,4,5], and retinitis punctata albescens [8] Some of these pathogenic variants are thought to cause the photoreceptor to be constitutively active (activity in the absence of light) based on their conformational changes and the accessibility of the chromophore-binding pocket [3,9,10,11]. Gender disbalance in the patient cohort was observed with males having an increased risk of disease
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