Progress in the research on clinical features of Best vitelliform macular dystrophy and mutations in BEST1 gene
10.3980/j.issn.1672-5123.2015.4.13
- VernacularTitle:Best卵黄样黄斑营养不良临床特点及 BEST1基因突变研究进展
- Author:
Jing-Shu, LIU
;
Yong-Jin, ZHANG
- Publication Type:Journal Article
- Keywords:
best vitelliform macular dystrophy;
BEST1;
bestrophin-1;
clinical feature;
gene mutation
- From:
International Eye Science
2015;(4):621-624
- CountryChina
- Language:Chinese
-
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.
