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Article

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

Acta ophthalmologica - 1 Sept 2026

Sæther Erlend, Bertelsen Geir, Bragadottir Ragnheidur, Holtan Josephine Prener

Abstract excerpt

PURPOSE: BEST1 variants are the third leading cause of inherited retinal dystrophies in Norway. The purpose of this study was to describe the BEST1-associated retinal dystrophy (BEST1-RD) population genetically and clinically, and to determine the prevalence of BEST1-RD in Southern and Eastern Norway. METHODS: This registry-based study used the Oslo University Hospital Inherited Retinal Disease registry for...

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Identifiers

PMID: 41627933
DOI: 10.1111/aos.70065
PMCID: PMC13460395

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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