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Article

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.

BMC ophthalmology - 16 Dec 2022

Haque Obaid Imtiyazul, Chandrasekaran Anbukayalvizhi, Nabi Faisal, Ahmad Owais, Marques João Pedro, Ahmad Tanweer

Abstract excerpt

PURPOSE: To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy. METHODS: Two siblings underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, fundus autofluorescence imaging, spectral-domain optical...

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Identifiers

PMID: 36527004
DOI: 10.1186/s12886-022-02703-5
PMCID: PMC9756692

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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