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Article

[Best's disease with normal EOG. Case report of familial macular dystrophy].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Sept 2005

Pollack K, Kreuz F R, Pillunat L E

Abstract excerpt

Best's disease is an autosomal dominant disorder with incomplete penetrance and variable expression. A typical characteristic of Best's disease is a pathological EOG. We describe four members of a family with bilateral, subfoveal vitelliform lesions. The EOG was normal in all cases. Genetic analysis of the oldest son indicated a heterozygotic mutation Ala234Val in the VMD2 gene, so-called bestrophin gene, which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15657694
DOI: 10.1007/s00347-004-1088-z

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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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[Best's disease with normal EOG. Case report of familial macular dystrophy].PMID 15657694Read ↗

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