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Article

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

Molecular vision - 31 Dec 2009

Querques Giuseppe, Zerbib Jennyfer, Santacroce Rossana, Margaglione Maurizio, Delphin Nathalie, Rozet Jean-Michel, Kaplan Josseline, Martinelli Domenico, Delle Noci Nicola, Soubrane Gisèle, Souied Eric H

Abstract excerpt

PURPOSE: To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene. METHODS: Best VMD patients with BEST1 mutations were evaluated prospectively regarding age, age of onset, best-corrected visual acuity (BCVA), fundus autofluorescence, fluorescein angiography, optical coherence tomography, and electro-oculography. Mutations in BEST1 were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20057903
PMCID: PMC2802291

Genes

BEST1

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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