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Article

Analysis of the EFEMP1 gene in individuals and families with early onset drusen.

Eye (London, England) - 1 Jan 2005

Narendran N, Guymer R H, Cain M, Baird P N

Abstract excerpt

AIMS: Age-related macular degeneration (AMD) is considered a complex genetic disease, although the genetic influences are not yet fully understood. Genetic analysis is hampered by the late onset of disease and the difficulty in obtaining multigenerational families. To investigate this problem further we studied our population of early onset drusen cases. The Arg345Trp mutation on exon 10 of the EGF-containing...

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Source

Identifiers

PMID: 15218514
DOI: 10.1038/sj.eye.6701435

Genes

EFEMP1
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

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Analysis of the EFEMP1 gene in individuals and families with early onset drusen.PMID 15218514Read ↗

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

EFEMP1 is not associated with sporadic 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 ↗

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

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

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

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

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle GlaucomaSemantic 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 ↗

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

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

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