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一视紫红质基因突变常染色体显性遗传视网膜色素变性家系的临床特征及其与基因型的关系 被引量：1

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摘要 视网膜色素变性（RP）是以夜盲、进行性视野损害、视网膜色素沉着、视盘呈蜡黄色萎缩和视网膜电图（ERG）呈熄灭型为主要临床特征的遗传性致盲眼病.RP遗传方式复杂,以常染色体显性遗传RP（ADRP）为多见.在已成功克隆出15个ADRP致病基因中,视紫红质（RHO）基因是引起ADRP的主要致病基因,大约20%的ADRP患者存在RHO基因突变.RHO突变位点很多,表型各异.为探讨RHO基因型与RP的关系,我们观察了1个RHO基因突变的ADRP家系中RP患者的临床特征.现将结果报道如下.
作者 孙安 李寿玲 王渊 高敏 龚健杨 周青 杜文辉
机构地区 安徽医科大学第一附属医院眼科 教育部“重要遗传病基因资源利用”重点实验室[(省部共建)
出处 《中华眼底病杂志》 CAS CSCD 北大核心 2010年第6期567-569,共3页 Chinese Journal of Ocular Fundus Diseases
基金 基金项目：国家自然科学基金资助项目（30672289）
关键词 视网膜炎 色素性 视紫质 系谱
分类号 R774.1 [医药卫生—眼科]
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参考文献15

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共引文献3

同被引文献7

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  • 7李文生,郑钦象,孔繁圣,庞继景.遗传性视网膜疾病的基因研究进展[J].中华眼科杂志,2010,46(2):186-192. 被引量：9

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中华眼底病杂志
2010年 第6期

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