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Article

Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.

Clinical & experimental ophthalmology - 1 Dec 2002

Guymer Robyn H, McNeil Robyn, Cain Melinda, Tomlin Belinda, Allen Penelope J, Dip Chi Luu, Baird Paul N

Abstract excerpt

BACKGROUND: A single base change within the EFEMP1 gene has been associated with malattia leventinese and Doyne honeycomb retinal dystrophy, two dominantly inherited macular diseases with early onset drusen. The aim of this study was to determine whether the same disease allele was also associate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12427233
DOI: 10.1046/j.1442-9071.2002.00572.x

Genes

EFEMP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12427233-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.PMID 12427233Read ↗

Analysis of the EFEMP1 gene in individuals and families with early onset drusen.Semantic proximity Read ↗

Early-onset drusen in Malattia Leventinese with EFEMP1 mutation differ from drusen in age-related macular degeneration.Semantic proximity Read ↗

EFEMP1 is not associated with sporadic early onset drusen.Semantic proximity Read ↗

Dominant radial drusen and Arg345Trp EFEMP1 mutation.Semantic proximity Read ↗

Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese familySemantic proximity Read ↗

Molecular genetic heterogeneity in autosomal dominant drusen.Semantic proximity Read ↗

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophySemantic proximity Read ↗

A Novel Haplotype with the R345W Mutation in the<i>EFEMP1</i>Gene Associated with Autosomal Dominant Drusen in a Japanese FamilySemantic proximity Read ↗

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.Semantic proximity Read ↗

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.Semantic proximity Read ↗

A review of the role of EFEMP1 in ophthalmic disease.Semantic proximity Read ↗

EFEMP1 rare variants cause juvenile-onset open angle glaucoma in families from the PhilippinesSemantic proximity Read ↗

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