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Article

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

Acta ophthalmologica - 1 May 2022

Nowomiejska Katarzyna, Nasser Fadi, Stingl Katarina, Schimpf-Linzenbold Simone, Biskup Saskia, Brzozowska Agnieszka, Rejdak Robert, Kohl Susanne, Zrenner Eberhart

Abstract excerpt

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...

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PMID: 34327816
DOI: 10.1111/aos.14958
PMCID: PMC9328113

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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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