Abstract
Purpose :
Bestrophinopathy is a clinically and genetically heterogeneous retinal disease which is mainly caused by BEST1 mutations. The purpose of this study is to analyze the mutation spectrum of BEST1 in a cohort of Chinese bestrophinopathy patients.
Methods :
Thirty-five bestrophinopathy patients and 26 clinically healthy family members from 25 unrelated families were recruited. Coding regions and adjacent intronic regions of BEST1 was analyzed by Sanger sequencing.
Results :
Ten novel mutations and 13 previous reported mutations were identified. Among the novel mutations, there were 6 missense mutations (c.88A>G, p.K30E; c.500A>G, p.E167G; c.764G>A, p.R255Q; c.817G>A, p.V273M; c.842T>C, p.F281S; and c.380C>T, p.T124M), 1 nonsense mutation (c.1550C>G, p.S157X), 1 deletion mutation (c.950_955del, p.S318_L319) and 2 splicing defects (c.1739+1G>A, c.247+2T>G). All patients had RPE disorder, serous retinal detachment with subretinal vitelliform deposits at the posterior poles (Figure 1-2). Eight patients had angle closure (22.86%) and 21 patients had angle-closure glaucoma (60%).
Conclusions :
Ten novel mutations with potential functional consequences were identified in BEST1 in a cohort of Chinese bestrophinopathy patients with high rate of angle closure and angle-closure glaucoma, suggesting a potential genetic and phenomic diversity of bestrophinopathy in Chinese patients.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.