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Article

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.

Ophthalmic genetics - 1 Jun 2006

Schatz Patrik, Klar Joakim, Andréasson Sten, Ponjavic Vesna, Dahl Niklas

Abstract excerpt

PURPOSE: To characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2. METHODS: Venous blood samples were obtained from six family members and screened for mutations in VMD2. Six individuals were examined clinically, four of whom were further investigated with full-field electroretinography (ERG), electro-oculography (EOG), multifocal...

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Source

Identifiers

PMID: 16754206
DOI: 10.1080/13816810600677990

Genes

ERG
RPE

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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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