与缓慢型视网膜变性基因突变相关的弥漫型视网膜色素变性伴黄斑部病变的研究

Phenotypes of diffuse retinitis pigmentosa and macular degeneration associated with retinal degeneration slow gene mutation

目的研究有缓慢型视网膜变性（ＲＤＳ）基因突变的临床表型，以探讨视网膜色素变性（ＲＰ）的分型方法。方法对查出ＲＤＳ基因突变的ＲＰ病例进行家系分析，以及视力、裂隙灯显微镜、直接检眼镜、视网膜电图、动态和／或静态视野、Ｄ１５色相配列试验、暗适应、眼底荧光血管造影或彩色眼底照相等眼科临床检查。结果本研究４例ＲＰ患者在中青年时发病，夜盲及视力下降几乎同时出现，视力下降明显，视网膜视锥、视杆细胞功能明显受损，眼底表现为弥漫型ＲＰ，伴有黄斑部病变。结论ＲＤＳ基因２１６密码突变的ＲＰ患者，眼部临床表现是视力损害严重的弥漫型ＲＰ，伴有黄斑部病变。

Objective To investigate into classification of the clinical phenotypes associated with retinal degeneration slow (RDS) gene mutation and to explore with classify methods of retinitis pigmentosa (RP). Methods Phenotypes of the patients with gene mutation was examined and determined by clinical ophthalmological examinations including visual acuity, slit lamp biomicroscopy, direct opthalmoscopy, flick electroretinography (FERG), kinetic and/or static perimetry, D 15 test, dark adaptometry, fundus fluorescein angiography or color fundus photography.Results All four patients with RDS gene mutation in the program were presented clinically with the phenotypes of diffuse RP and macular degeneration. Their visual loss were serious, and started at age 20 to 40, at the same time started to have blindness. FERG showed disappearance of rod and cone waves. Conclusions The ocular findings of the patients with code 216 mutation of RDS gene included severe visual functional loss, diffuse pigmentary changes with macular degeneration.