Open AccessNovel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings
Author(s) -
Rika Yamada,
Rina Takagi,
Sadahiko Iwamoto,
Shoichi Shimada,
Akihiro Kakehashi
Publication year - 2021
Publication title -
taiwan journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.519
H-Index - 9
eISSN - 2211-5072
pISSN - 2211-5056
DOI - 10.4103/tjo.tjo_37_20
Subject(s) - medicine , exome sequencing , fundus (uterus) , mutation , genetics , genotype , genotype phenotype distinction , ophthalmology , gene , biology
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.