Weleber R G, Carr R E, Murphey W H, Sheffield V C, Stone E M
Department of Ophthalmology, Oregon Health Sciences University, Portland.
Arch Ophthalmol. 1993 Nov;111(11):1531-42. doi: 10.1001/archopht.1993.01090110097033.
Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene.
Case reports with clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, and molecular genetics.
University medical centers.
A 75-year-old woman, her two daughters (aged 44 and 50 years), and her 49-year-old son were screened for peripherin/RDS mutations because of the presence of multiple phenotypes within the same family.
The mother presented at age 63 years with a profoundly abnormal electroretinogram (ERG) and adult-onset retinitis pigmentosa that progressed dramatically over 12 years, with marked loss of peripheral visual field. One daughter developed pattern macular dystrophy at age 31 years. At age 44 years, her ERG was moderately abnormal but her clinical disease was limited to the macula. Another daughter presented at age 42 years with macular degeneration and over 10 years developed the clinical picture of fundus flavimaculatus. Her peripheral visual field was preserved but her ERG was moderately abnormal. The son had onset of macular degeneration at age 44 years. Pericentral scotomas were present and the ERG was markedly abnormal. Fluorescein angiography revealed punctate pigment epithelial transmission defects.
A 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene can produce clinically disparate phenotypes even within the same family.
据报道，外周蛋白/RDS基因的突变与常染色体显性遗传性视网膜色素变性、图案状黄斑营养不良以及白点状视网膜变性有关。我们在此报告一个家族中发生的三种不同表型，该家族外周蛋白/RDS基因密码子153或154处出现了新的3个碱基对的缺失。
具有临床特征、荧光素血管造影、动态视野检查、电生理研究及分子遗传学的病例报告。
大学医学中心。
一名75岁女性及其两个女儿（分别为44岁和50岁）和49岁的儿子，因同一家族中存在多种表型而接受外周蛋白/RDS基因突变筛查。
母亲63岁时出现严重异常的视网膜电图（ERG）及成人期发病的视网膜色素变性，病情在12年内急剧进展，周边视野明显丧失。一个女儿31岁时患图案状黄斑营养不良。44岁时，其ERG中度异常，但临床疾病仅限于黄斑区。另一个女儿42岁时出现黄斑变性，10多年后发展为黄斑黄白色眼底病变的临床表现。她的周边视野得以保留，但ERG中度异常。儿子44岁时开始出现黄斑变性。存在中心旁暗点，ERG明显异常。荧光素血管造影显示点状色素上皮传递缺陷。
外周蛋白/RDS基因密码子153或154处3个碱基对的缺失即使在同一家族中也可产生临床上不同的表型。
