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Article

Basal laminar drusen caused by compound heterozygous variants in the CFH gene.

American journal of human genetics - 1 Feb 2008

Boon Camiel J F, Klevering B Jeroen, Hoyng Carel B, Zonneveld-Vrieling Marijke N, Nabuurs Sander B, Blokland Ellen, Cremers Frans P M, den Hollander Anneke I

Abstract excerpt

Age-related macular degeneration (AMD) is a multifactorial disease that is strongly associated with the Tyr402His variant in the complement factor H (CFH) gene. Drusen are hallmark lesions of AMD and consist of focal-inflammatory and/or immune-mediated depositions of extracellular material at the interface of the retinal pigment epithelium (RPE) and the Bruch membrane. We evaluated the role of CFH in 30 probands...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18252232
DOI: 10.1016/j.ajhg.2007.11.007
PMCID: PMC2427272

Genes

CFH
RPE

Provenance

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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