RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy
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伴有或不伴有黄斑营养不良的白斑眼底 RDH5 基因突变和视网膜电图
DOI：
10.1023/a:1024498826904
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发表时间：
2003
影响因子：
1.4
通讯作者：
Y. Miyake
中科院分区：
文献类型：
--
作者：
Makoto Nakamura;J. Skalet;Y. Miyake
本研究旨在分析黄斑营养不良和黄斑营养不良的白点眼底患者的RDH 5基因，并将鉴定的突变与电生理结果相关联。21例患者来自19个无关的日本家庭眼底白斑进行了检查。10名无关患者患有黄斑营养不良。在18例患者中，在RDH 5基因中鉴定出纯合或复合杂合突变。明闪混合视杆-视锥ERG在短时间暗适应（20或30 min）后出现负性结构，a波振幅降低。经过长时间的暗适应期（2或3小时）后，无黄斑营养不良的患者的波形达到正常振幅，但患有黄斑营养不良的患者的a波仍然低于正常。黄斑营养不良患者的明视ERG反应显著降低，表明他们也有视锥细胞营养不良。明视ERG仅在部分无黄斑营养不良的患者中降低。在没有黄斑营养不良的患者中，暗视b波振幅在短暂的暗适应期后不可记录或显著降低，但随后改善至正常水平。然而，在一些患有黄斑营养不良的患者中，它们并没有完全恢复。3例视网膜色素变性患者的视网膜电图反应不典型，常规方法检测不到RDH 5基因突变。我们的结论是RDH 5基因突变导致进行性视锥细胞营养不良或黄斑营养不良以及夜盲症。RDH 5基因突变患者的临床表型（包括电生理反应）各不相同。
The aim of this study was to analyze the RDH5 gene in patients with fundus albipunctatus with and without macular dystrophy, and correlate the identified mutations with the electrophysiological results. Twenty-one patients from 19 unrelated Japanese families with fundus albipunctatus were examined. Ten unrelated patients had macular dystrophy. In 18 patients, either a homozygous or a compound heterozygous mutation in the RDH5 gene was identified. The bright-flash, mixed rod-cone ERG had a negative configuration with reduced a-wave amplitudes after a short period of dark-adaptation (20 or 30 min). After a prolonged dark-adaptation period (2 or 3 h), the waveform attained normal amplitudes in patients without macular dystrophy but the a-waves were still subnormal in patients with macular dystrophy. The photopic ERG responses were significantly reduced in patients with macular dystrophy, indicating that they also had cone dystrophy. The photopic ERGs were reduced in only some of the patients without macular dystrophy. In patients without macular dystrophy, the scotopic b-wave amplitudes were nonrecordable or significantly reduced after a short dark-adaptation period but then improved to normal levels. However, they did not fully recover in some patients with macular dystrophy. Three patients with macular dystrophy in whom a RDH5 gene mutation could not be detected by our routine method had atypical ERG responses. We conclude that RDH5 gene mutations cause a progressive cone dystrophy or macular dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations.
长期随访眼底白斑的生理异常及眼底变化。
影响因子：
13.7
作者：
Marmor,MF
通讯作者：
Marmor,MF
11-顺式视黄醇脱氢酶突变是先天性夜盲症（称为眼底白斑）的主要原因。
影响因子：
2.2
作者：
Gonzalez-Fernandez,F;Kurz,D;Bao,Y;Newman,S;Conway,BP;Young,JE;Han,DP;Khani,SC
通讯作者：
Khani,SC