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Article

Novel mutation in BEST1 associated with retinoschisis.

JAMA ophthalmology - 1 Jun 2013

Silva Ruwan A, Berrocal Audina M, Lam Byron L, Albini Thomas A

Abstract excerpt

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Topics

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Share to Bestrophins
Share to Chloride Channels
Share to Electrooculography
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinoschisis

Share to Tomography, Optical Coherence

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Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 23572118
DOI: 10.1001/jamaophthalmol.2013.2047

Genes

BEST1

Provenance

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

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Novel mutation in BEST1 associated with retinoschisis.PMID 23572118Read ↗

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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in HumansSemantic proximity Read ↗

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathySemantic proximity Read ↗

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Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).Semantic proximity Read ↗

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Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.Semantic proximity Read ↗

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

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