Progress in the research on clinical features of Best vitelliform macular dystrophy and mutations in BEST1 gene

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.

Key words:best vitelliform macular dystrophy; BEST1; bestrophin-1; clinical feature; gene mutation