Eye Hospital, University Medical Centre Ljubljana, Grablovičeva ulica 46, 1000 Ljubljana, Slovenia.
Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Šlajmerjeva ulica 4, 1000 Ljubljana, Slovenia.
Int J Mol Sci. 2021 Feb 21;22(4):2133. doi: 10.3390/ijms22042133.
Mutations in rhodopsin gene () 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 ( = 3, 20%) sector RP ( = 3, 20%), pericentral RP ( = 1, 6.7%) and classic RP ( = 8, 53.3% (8/15)). The phenotypes were not associated with family, sex or age (Kruskal-Wallis, > 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.
视紫红质基因突变（）是引起视网膜色素变性（RP）的常见原因，较少引起先天性静止性夜盲症（CSNB）。先前有研究在一个家族中发现 p.G90D 突变与 CSNB 相关。本研究对 60 名患者进行了筛查。其中 32 名患者受到影响，对 15 名患者进行了全面特征描述。我们从三个家族中描述了这 15 名患者（12 名男性，中位年龄 42 岁，范围 8-71 岁）的临床特征，包括视野（Campus Goldmann）、眼底自发荧光（FAF）、光学相干断层扫描（OCT）和电生理学。表型分为四类：CSNB（=3，20%）扇形 RP（=3，20%）、中心旁 RP（=1，6.7%）和经典 RP（=8，53.3%（8/15））。表型与家族、性别或年龄无关（Kruskal-Wallis，>0.05），然而，只有一个家族观察到囊样黄斑水肿（CME）。在报告夜盲症的患者中，69%（22/32）为男性。迄今为止最大的 p.G90D 患者队列的临床特征显示出较高频率的进行性视网膜变性，其中 53.3%发展为 RP，与先前的报告相反。
