Best卵黄样黄斑营养不良临床特点及 BEST1基因突变研究进展

摘要

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.%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。