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Article

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.

Ophthalmology - 1 May 2021

Casalino Giuseppe, Khan Kamron N, Armengol Monica, Wright Genevieve, Pontikos Nikolas, Georgiou Michalis, Webster Andrew R, Robson Anthony G, Grewal Parampal S, Michaelides Michel

Abstract excerpt

PURPOSE: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. DESIGN: Retrospective case series. PARTICIPANTS: Patients with a detailed clinical phenotype consistent with ARB, biallelic likely disease-causing sequence variants in the BEST1 gene, or both identified at a single tertiary referral center....

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Source

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Identifiers

PMID: 33039401
DOI: 10.1016/j.ophtha.2020.10.006
PMCID: PMC8062850

Genes

BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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