Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings.

ABSTRACT:

Purpose

Autosomal recessive bestrophinopathy (ARB) is a disease that results from the mutations in the BEST1 gene. It is characterized by multifocal yellowish lipofuscin deposits, cystoid macular edema, and subretinal fluid. Among approximately 270 BEST1 mutations, only 40 that include both heterozygous and homozygous mutations are associated with ARB. However, very few ARB-related mutations have been reported in the Japanese population. Therefore, in this study, we aimed to identify BEST1 mutations and describe the genotype-phenotype relationship in Japanese dizygotic twins presenting with ARB.

Materials and methods

We performed clinical examinations in Japanese dizygotic twin patients (male: 29 years) with ARB as well as whole-exome sequencing in seven

SUBMITTER: Yamada R 

PROVIDER: S-EPMC7971447 | biostudies-literature | 2021 Jan-Mar

REPOSITORIES: biostudies-literature