A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.

ABSTRACT:

Purpose

To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy.

Methods

Two siblings underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, fluorescein angiography, electroretinography, and electrooculography. A clinical diagnosis of autosomal recessive bestrophinopathy was established based on ocular examination and multimodal retinal imaging. Subsequently, clinical exome sequencing consisting of a panel of 6670 genes was carried out to confirm the diagnosis and assess genetic alterations in

SUBMITTER: Haque OI 

PROVIDER: S-EPMC9756692 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature