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Article

Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

Ophthalmic genetics - 1 Jun 2001

Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S

Abstract excerpt

PURPOSE: To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene. METHODS: The genotype was determined by direct sequence analysis of the individual exons of VMD2. Nine members of a family with BMD were examined. The examination included best-corrected visual acuity, electro-oculography (EOG), fundus examination, and...

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Source

Identifiers

PMID: 11449320
DOI: 10.1076/opge.22.2.107.2226

Genes

ERG

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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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