| 结晶样视网膜色素变性临床与基础研究的机遇与挑战 |
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| 引用本文： | 李杨.结晶样视网膜色素变性临床与基础研究的机遇与挑战[J].眼科,2020,29(2):84-86. |
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| 作者姓名： | 李杨 |
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| 作者单位： | 首都医科大学附属北京同仁医院 北京同仁眼科中心 北京市眼科研究所 眼科学与视觉科学北京市重点实验室100005 |
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| 基金项目： | 国家重点研发计划(2016YFC0905200). |
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| 摘 要： | 结晶样视网膜色素变性（Bietti crystalline dystrophy，BCD）是视网膜色素变性中的一种特殊类型，其在东亚人群特别是中国人和日本人中较为常见。BCD的遗传方式为常染色体隐性遗传，唯一的致病基因为CYP4V2。对BCD患者自然史和CYP4V2突变导致BCD机制研究，将对确定BCD患者基因治疗的时间窗、临床研究中治疗效果评定以及探索治疗BCD其他方法均至关重要。（眼科，2020，29： 84-86）
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| 关 键 词： | 结晶样视网膜色素变性 CYP4V2基因 基因突变 |
| 收稿时间： | 2020-02-25 |
Opportunities and challenges of clinical and basic research on Bietti crystalline dystrophy |
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| Li Yang.Opportunities and challenges of clinical and basic research on Bietti crystalline dystrophy[J].Ophthalmology in China,2020,29(2):84-86. |
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| Authors: | Li Yang |
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| Institution: | Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing 100005, China |
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| Abstract: | Bietti crystalline dystrophy(BCD)is a specific kind of retinitis pigmentoas(RP)and is comparatively common in East Asia,particularly in China and Japan.BCD is inherited in an autosomal recessive inheritance mode and its disease-causing gene is CYP4V2.Majority previously published studies have described the phenotypic and genotypic characterization of BCD,however,we are still unclear on natural history of BCD patients and pathogenesis of BCD,which is very important to determinate time window of BCD gene therapy,evaluate outcome of clinical trials,and explore other treatment. |
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| Keywords: | Bietti crystalline dystrophy CYP4V2 gene mutation |
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