Abstract
Purpose :
To investigate the clinical characteristics of patients with BVMD or ARB carrying BEST1 mutations.
Methods :
A total of 12 probands including 9 patients with a clinical diagnosis of BVMD and 3 patients with a clinical diagnosis of ARB were recruited for genetics analysis. All patients underwent detailed ophthalmic examination. All coding exons of the BEST1 gene were screened by PCR-based DNA sequencing. Programs of PolyPhen2, SIFT and MutationTaster were used to analyze the potential pathogenicity of the mutations in BEST1.
Results :
The 9 unrelated patients with BVMD revealed one heterozygous BEST1 mutation in 8 patients and two compound heterozygous mutations in 1 patient. The 3 unrelated patients with ARB revealed two compound heterozygous mutations in 2 patients and three compound heterozygous mutations in 1 patient. Molecular analyses identified a total of 15 mutations, including 3 novel mutations (c.424A>G p.S142G, c.436G>A p.A146T and c.155T>C p.L52P). Anti-vascular endothelial growth factor (VEGF) drugs were given to two affected eyes, especially those also exhibiting choroidal neovascularization (CNV), and no serious adverse events occurred.
Conclusions :
Our study indicates that there is wide genotypic and phenotypic variability in patients with BVMD or ARB in China. The screening of BEST1 gene is significant for the precise diagnosis of BVMD and ARB.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.