Novel <i><scp>BEST</scp>1</i> mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients

Abstract

The six novel mutations and high frequency of p.R255W suggest ethnical differences in the BEST1 mutation spectrum among Chinese patients. BEST1 gene screening and detailed clinical examinations help establishing a diagnosis of ARB. Clinical evaluations of the risk of developing AC/ACG are recommended for ARB patients.