Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.

ABSTRACT:

Purpose

To analyse the spectrum of clinical features and molecular genetic data in a series of patients carrying likely disease-associated variants in the BEST1 gene.

Methods

Retrospective observational analysis of clinical data extracted from the medical records of visual function, multimodal imaging and electrophysiology of 62 eyes of 31 patients. Molecular genetic analysis was performed by means of panel-based NGS or Sanger sequencing.

Results

The spectrum of variants in the BEST1 gene comprised 19 different variants and three of which are novel. Fundus photographs and OCT images allowed categorization of 52 eyes as Best vitelliform macular dystrophy (BVMD) with stages 1 to 5 and 10 eyes with autosomal recessive bestrophinopathy (ARB), with more severe phenotype. O

SUBMITTER: Nowomiejska K 

PROVIDER: S-EPMC9328113 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature