Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.

ABSTRACT: To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive bestrophinopathy (ARB) and two showed a phenotype with a single vitelliform lesion, patients were subjected to standard ophthalmic examinations. In addition, BEST1 exons and their flanking regions were amplified and sequenced by Sanger sequencing. Co-segregation and detailed bio-informatic analyses were performed. Clinical examination results were consistent with ARB diagnosis for all index patients showing multifocal vitelliform lesions and a markedly reduced light peak in the electrooculogram, including the two patients with a single vitelliform lesion. In all cases, most likely disease-causing BES

SUBMITTER: Jaffal L 

PROVIDER: S-EPMC6409913 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature