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Article

EFEMP1 is not associated with sporadic early onset drusen.

Ophthalmic genetics - 1 Mar 2001

Sauer C G, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber B H

Abstract excerpt

The early onset of multiple drusen in the posterior pole of the retina is characteristic of a group of macular dystrophies often referred to as dominant or radial drusen. At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix protein-1 (EFEMP1) and...

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Source

Identifiers

PMID: 11262647
DOI: 10.1076/opge.22.1.27.2239

Genes

EFEMP1
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EFEMP1 is not associated with sporadic early onset drusen.PMID 11262647Read ↗

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

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 ↗

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

Dominant radial drusen and Arg345Trp EFEMP1 mutation.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 ↗

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 ↗

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

Multimodal imaging of autosomal dominant drusen.Semantic proximity Read ↗

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