Niemeyer G, Trüb P, Schinzel A, Gal A
Dept. of Ophthalmology, University of Zürich, Switzerland.
Doc Ophthalmol. 1992;79(4):303-11. doi: 10.1007/BF00160945.
In a family with autosomal dominant retinitis pigmentosa, documented over six generations, a previously undescribed point mutation in the rhodopsin gene could be identified. The mutation found in the six affected members examined but in none of the controls, including healthy members of the family, was a point mutation in codon 347 predicting a substitution of the amino acid arginine for proline, designated Pro-347-Arg. Six affected members from two generations were examined clinically and with ganzfeld rod and cone electroretinography. The cone and, more dramatically, the rod electroretinograms were reduced to residual b-wave amplitudes or were non-detectable as early as ages 18 to 22 years. The Pro-347-Arg mutation resulted in a subjectively and clinically homogeneous phenotype: early onset of night blindness before age 11, relatively preserved usable visual fields until about age 30, blindness at ages 40 to 60, and change from an initial apparently sine pigmento to a hyperpigmented and atrophic fundus picture between 30 and 50 years of age.
在一个有记录的常染色体显性遗传性视网膜色素变性家族中，历经六代，可鉴定出视紫红质基因中一个此前未被描述的点突变。在检测的六名患病成员中发现了该突变，但在包括该家族健康成员在内的所有对照中均未发现。此突变位于密码子347处，预测脯氨酸被精氨酸替代，命名为Pro-347-Arg。对来自两代的六名患病成员进行了临床检查以及全视野视杆和视锥细胞视网膜电图检查。视锥细胞视网膜电图，更显著的是视杆细胞视网膜电图，早在18至22岁时就降低为残余b波振幅或无法检测到。Pro-347-Arg突变导致了一种主观和临床特征均一致的表型：11岁前出现早期夜盲，直到约30岁时相对保留可用视野，40至60岁时失明，以及在30至50岁之间从最初明显的无色素改变为色素沉着过度和萎缩性眼底图像。
