Ayuso C, Reig C, Garcia-Sandoval B, Trujillo M J, Antiñolo G, Borrego S, Carballo M
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
Ophthalmic Genet. 1996 Sep;17(3):95-101. doi: 10.3109/13816819609057111.
A large family affected with autosomal dominant retinitis pigmentosa (ADRP) with a sectorial phenotype showed a previously described (G to A) mutation in the rhodopsin gene resulting in the substitution of a glycine residue by an arginine in codon 106 of rhodopsin. This mutation shows some unusual characteristics, such as initial pathology of the inferior retina, superior visual field with normal disc and retinal vessels, and ERG findings that show a modest reduction in both cone and rod amplitudes with normal implicit times. The Gly 106 Arg mutation has been previously reported in American and British patients. Its presence in a Spanish ADRP family confirms that it and its homogeneous associated phenotype are geographically widespread.
一个患有扇形表型常染色体显性视网膜色素变性（ADRP）的大家族，其视紫红质基因中出现了一个先前描述的（G到A）突变，导致视紫红质第106密码子处的甘氨酸残基被精氨酸取代。该突变呈现出一些不寻常的特征，如下方视网膜的初始病变、视盘和视网膜血管正常的上方视野，以及视网膜电图结果显示视锥和视杆振幅适度降低而潜伏时正常。甘氨酸106精氨酸突变先前已在美国和英国患者中报道。它在一个西班牙ADRP家族中的出现证实了它及其相关的同源表型在地理上分布广泛。
