论文部分内容阅读
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、Ｄ１５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 study the clinical phenotypes of RDS gene mutations in order to explore the method of typing retinitis pigmentosa (RP). Methods A pedigree analysis of RP patients with RDS gene mutations was performed. The relationship between visual acuity, slit lamp microscopy, direct ophthalmoscope, electroretinography, dynamic and / or static field, D15 color matching, dark adaptation, fundus fluorescein angiography Or color fundus photography and other eye clinical examination. Results In this study, 4 cases of RP patients in the youth onset, night blindness and decreased visual acuity almost simultaneously, decreased visual acuity, retinal cones, rod cells significantly impaired function, fundus showed diffuse RP, associated with macular degeneration. Conclusion RP patients with RDS gene mutation 216 have clinically significant diffuse RP with macular lesions.