Hayakawa M, Hotta Y, Imai Y, Fujiki K, Nakamura A, Yanashima K, Kanai A
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
Am J Ophthalmol. 1993 Feb 15;115(2):168-73. doi: 10.1016/s0002-9394(14)73920-0.
A 49-year-old Japanese man had autosomal dominant retinitis pigmentosa with a point mutation in codon 17 of the rhodopsin gene, resulting in a threonine-to-methionine change, and retinal neovascularization in both eyes. Pigmentary degeneration mainly in the inferior area of the fundus, and severe loss in the upper portion of the visual field were observed. Moderately preserved rod and cone functions were demonstrated by electroretinograms. These findings differed from those of Japanese and white patients with autosomal dominant retinitis pigmentosa with a codon 347 mutation and were almost the same as those of white patients with the codon 17 mutation. Our study indicates that phenotypic similarities exist among patients with the same mutation, but of different racial backgrounds. The neovascularization in the right eye diminished over a two-year period in conjunction with the progression of retinal degeneration.
一名49岁的日本男性患有常染色体显性遗传性视网膜色素变性，其视紫红质基因第17密码子发生点突变，导致苏氨酸变为甲硫氨酸，双眼出现视网膜新生血管。眼底主要在下半区域出现色素性退变，视野上半部分严重缺损。视网膜电图显示杆状细胞和锥状细胞功能中度保留。这些发现与患有第347密码子突变的日本和白人常染色体显性遗传性视网膜色素变性患者不同，与患有第17密码子突变的白人患者几乎相同。我们的研究表明，具有相同突变但种族背景不同的患者之间存在表型相似性。右眼的新生血管在两年内随着视网膜变性的进展而减少。
