| Best卵黄样黄斑营养不良临床特点及BEST1基因突变研究进展 |
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| 引用本文： | 刘婧姝,张勇进. Best卵黄样黄斑营养不良临床特点及BEST1基因突变研究进展[J]. 国际眼科杂志, 2015, 15(4): 621-624 |
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| 作者姓名： | 刘婧姝 张勇进 |
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| 作者单位： | 复旦大学附属眼耳鼻喉科医院眼科, 中国上海市,200031 |
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| 基金项目： | 上海市自然基金(No.12ZR1404800) |
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| 摘 要： | Best 卵黄样黄斑营养不良( Best vitelliform macular dystrophy,BVMD)是常染色体显性遗传疾病,绝大多数由BEST1基因突变引起。突变基因导致其编码的bestrophin-1蛋白功能异常,患者表现出以视力下降为主的临床症状。本文从BEST1基因结构及功能、基因突变特点、BVMD临床表现及其与BEST1突变的关系、可能的治疗手段等几个方面进行阐述,以期在此基础上对疾病及致病基因进行进一步研究。
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| 关 键 词： | Best卵黄样黄斑营养不良 BEST1 bestrophin-1 临床表现 基因突变 |
| 收稿时间： | 2014-01-14 |
| 修稿时间： | 2015-03-25 |
Progress in the research on clinical features of Best vitelliform macular dystrophy and mutations in BEST1 gene |
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| Jing-Shu Liu and Yong-Jin Zhang. Progress in the research on clinical features of Best vitelliform macular dystrophy and mutations in BEST1 gene[J]. International Eye Science, 2015, 15(4): 621-624 |
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| Authors: | Jing-Shu Liu and Yong-Jin Zhang |
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| Affiliation: | Department of Ophthalmology, Eye and ENT of Fudan University, Shanghai 200031, Shanghai City, China;Department of Ophthalmology, Eye and ENT of Fudan University, Shanghai 200031, Shanghai City, China |
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| Abstract: | Best vitelliform macular dystrophy(BVMD)is an autosomal dominant disease mostly caused by mutations in BEST1 gene. These mutations change the normal physiological functions of BEST1-encoded bestrophin-1 protein, and finally lead to a reduction of visual acuity. This review is composed of the following aspects: the structure and functions of BEST1 gene, the characteristics of the mutations, clinical features of BVMD, genotype-phenotype correlations as well as possible gene therapy. Our contribution serves for further research on BVMD and BEST1 gene. |
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| Keywords: | best vitelliform macular dystrophy BEST1 bestrophin-1 clinical feature gene mutation |
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