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Article

Clinical and molecular genetic analysis of best vitelliform macular dystrophy.

Retina (Philadelphia, Pa.) - 1 Jun 2009

Boon Camiel J F, Theelen Thomas, Hoefsloot Elisabeth H, van Schooneveld Mary J, Keunen Jan E E, Cremers Frans P M, Klevering B Jeroen, Hoyng Carel B

Abstract excerpt

PURPOSE: To describe the phenotype of Best vitelliform macular dystrophy (BVMD) and to evaluate genotype-phenotype and histopathologic correlations. METHODS: Retrospective analysis of patients with BVMD who underwent an extensive ophthalmic examination, including best-corrected Snellen visual acuity, fundus examination by indirect ophthalmoscopy, fundus photography, fundus autofluorescence, optical coherence...

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Source

Identifiers

PMID: 19357557
DOI: 10.1097/IAE.0b013e31819d4fda

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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