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Article

Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.

Ophthalmic genetics - 1 Jan 2015

Pasquay Caroline, Wang Lu Fei, Lorenz Birgit, Preising Markus N

Abstract excerpt

This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in the control and properties of the light peak of the EOG. Initially human bestrophin 1 gene (BEST1) mutations were identified to underlie Best vitelliform macular dystrophy (VMD), a dominantly inherited, juvenile-onset form of macular degeneration. In the...

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Bestrophins
Calcium Channels
Chloride Channels
Eye Diseases, Hereditary
Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Photoreceptor Cells, Vertebrate

Retinal Diseases

Retinal Pigment Epithelium

Source

Identifiers

PMID: 24328569
DOI: 10.3109/13816810.2013.863945

Genes

BEST1
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.PMID 24328569Read ↗

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Bestrophin 1 and retinal disease.Semantic proximity Read ↗

Bestrophin1: A Gene that Causes Many Diseases.Semantic proximity Read ↗

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BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.Semantic proximity Read ↗

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.Semantic proximity Read ↗

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.Semantic proximity Read ↗

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.Semantic proximity Read ↗

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.Semantic proximity Read ↗

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.Semantic proximity Read ↗

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