伴有扇形视网膜色素变性的小口病，其抑制蛋白基因第1147位存在腺嘌呤缺失。
Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
作者信息
Nakamachi Y, Nakamura M, Fujii S, Yamamoto M, Okubo K
机构信息
Department of Ophthalmology, Kobe University School of Medicine, Japan.
出版信息
Am J Ophthalmol. 1998 Feb;125(2):249-51. doi: 10.1016/s0002-9394(99)80100-7.
PURPOSE
To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene.
METHOD
Case report.
RESULTS
In both eyes, golden discoloration with Mizuo-Nakamura phenomenon and tapetoretinal degeneration of the fundus were exhibited. Electroretinography showed abnormal a-wave and absent b-wave. The presence of 1147delA in the arrestin gene was demonstrated.
CONCLUSIONS
Our case provides further evidence of the close association of 1147delA in the arrestin gene in Japanese patients with Oguchi disease. Coexpression of both phenotypes of Oguchi disease and retinitis pigmentosa may suggest the possible involvement of additional defects of genes encoding the phototransduction proteins.
目的
报告一名患有小口病和扇形视网膜色素变性的日本患者，其抑制蛋白基因第1147位存在纯合腺嘌呤缺失（1147delA）。
方法
病例报告。
结果
双眼均出现伴有水尾-中村现象的金色变色以及眼底的毯层视网膜变性。视网膜电图显示a波异常且b波消失。证实了抑制蛋白基因中存在1147delA。
结论
我们的病例进一步证明了抑制蛋白基因中的1147delA与日本小口病患者密切相关。小口病和视网膜色素变性两种表型的共表达可能提示编码光转导蛋白的基因存在其他缺陷。
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