Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.

ABSTRACT:

Purpose

The purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe the clinical features of these patients.

Methods

Thirteen patients from 12 unrelated Chinese families affected by bestrophinopathy were recruited and clinically evaluated with best-corrected visual acuity examination, slit-lamp biomicroscopy, fundus examination and photography, optical coherence tomography, fundus autofluorescence, electro-oculography, and electroretinography. Blood samples were collected for DNA extraction. Mutation analysis was performed by direct sequencing of the BEST1 gene. One hundred control chromosomes were also screened to exclude nonpathogenic polymorphisms.

Results

Seven patients showed clinical pictures of Best vi

SUBMITTER: Tian R 

PROVIDER: S-EPMC4225144 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature