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Article

OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.

Ophthalmic genetics - 1 Mar 2011

Chacon-Camacho Oscar F, Camarillo-Blancarte Leyla, Zenteno Juan C

Abstract excerpt

PURPOSE: Best disease is an autosomal dominant retinal degeneration characterized by the presence of yellow lesions in the macula causing decreased central visual acuity at later stages. Best disease is caused by heterozygous mutations in BEST1, a gene located at chromosome 11q13. In the present...

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Source

Identifiers

PMID: 21077756
DOI: 10.3109/13816810.2010.524906

Genes

BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21077756-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.PMID 21077756Read ↗

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

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.Semantic proximity Read ↗

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

[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].Semantic proximity Read ↗

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.Semantic proximity Read ↗

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.Semantic proximity Read ↗

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Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.Semantic proximity Read ↗

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