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Article

[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].

Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2020

Milenkovic Andrea, Brandl Caroline, Nachtigal Anna-Lena, Kellner Ulrich, Weber Bernhard H F

Abstract excerpt

Bestrophin 1 (BEST1) encodes an integral membrane protein localized in the basolateral aspect of the retinal pigment epithelium. Mutations in BEST1 are associated with distinct retinal dystrophies, the so-called "bestrophinopathies", often causing visual impairment, even in early childhood. The clinical entities of the bestrophinopathies can be distinguished by phenotypic characteristics and mode of inheritance...

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Source

Identifiers

PMID: 32120431
DOI: 10.1055/a-1065-2129

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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