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Article

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

Ophthalmic genetics - 1 Jun 2011

Wittström Elisabeth, Ekvall Sara, Schatz Patrik, Bondeson Marie-Louise, Ponjavic Vesna, Andréasson Sten

Abstract excerpt

PURPOSE: To describe morphological and functional changes in a single patient with multifocal Best vitelliform macular dystrophy (BVMD) and to perform a genotype/phenotype correlation. METHODS: The proband with multifocal BVMD and three of her family members were examined with electrooculography (EOG), full-field electroretinography (full-field ERG), multifocal electroretinography (mfERG) and optical coherence...

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Source

Identifiers

PMID: 21192766
DOI: 10.3109/13816810.2010.535890

Genes

BEST1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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