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Article

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

International journal of molecular sciences - 26 Feb 2020

Nachtigal Anna-Lena, Milenkovic Andrea, Brandl Caroline, Schulz Heidi L, Duerr Lisa M J, Lang Gabriele E, Reiff Charlotte, Herrmann Philipp, Kellner Ulrich, Weber Bernhard H F

Abstract excerpt

Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (BEST1) gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). To date, while no treatment exists a better understanding of BEST1-related...

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Identifiers

PMID: 32111077
DOI: 10.3390/ijms21051597
PMCID: PMC7084480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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