OCULAR FINDINGS ASSOCIATED WITH A RHODOPSIN GENE CODON-106 MUTATION - GLYCINE-TO-ARGININE CHANGE IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
OCULAR FINDINGS ASSOCIATED WITH A RHODOPSIN GENE CODON-106 MUTATION - GLYCINE-TO-ARGININE CHANGE IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
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DOI：
10.1001/archopht.1992.01080170068026
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发表时间：
1992-05-01
影响因子：
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通讯作者：
SHEFFIELD, VC
中科院分区：
文献类型：
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作者：
FISHMAN, GA;STONE, EM;SHEFFIELD, VC
一个家庭的三名成员和另一个家庭的一名成员被发现在视紫红质基因密码子106的第一个核苷酸中存在鸟嘌呤到腺嘌呤的转换突变，导致甘氨酸到精氨酸的变化。所有受影响的成员提出了一个类似的表型，其中包括区域性的色素性变化，发生在下视网膜以及视野损害主要是在上级半球。色素改变的分布，视野丧失的模式，以及大量剩余的视网膜电图振幅与正常的内隐时间是一致的一种形式的“部门”视网膜色素变性。我们记录了常染色体显性视网膜色素变性的一个独特的表型与更好的视力预后和一个特定的视紫红质基因突变的关联。
Three members of one family and one person from another family were found to have a guanine-to-adenine transition mutation in the first nucleotide of codon 106 in the rhodopsin gene that results in a glycine-to-arginine change. All affected members presented with a similar phenotype that included a regional predilection for pigmentary changes to occur in the inferior retina as well as visual field impairment predominantly in the superior hemisphere. The distribution of pigmentary changes, pattern of visual field loss, and substantial remaining electroretinographic amplitudes with normal implicit times were consistent with a form of "sector" retinitis pigmentosa. We documented the association of a distinct phenotype of autosomal dominant retinitis pigmentosa with a better visual prognosis and a specific rhodopsin gene mutation.