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Article

Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.

Ophthalmic research - 1 Jan 2012

Cascavilla Maria Lucia, Querques Giuseppe, Stenirri Stefania, Battaglia Parodi Maurizio, Querques Lea, Bandello Francesco

Abstract excerpt

AIMS: It was the aim of this study to report on a patient in whom a novel mutation in the BEST1 gene was responsible for unilateral vitelliform phenotype in autosomal recessive bestrophinopathy (ARB). METHODS: An 8-year-old young girl (proband) with unilateral vitelliform phenotype underwent a complete ophthalmologic examination at baseline (time of diagnosis) and 2 years later. Genomic DNA was extracted to look...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22584882
DOI: 10.1159/000338750

Genes

BEST1

Variants

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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