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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 1 Oct 2002

Marmorstein Lihua Y, Munier Francis L, Arsenijevic Yvan, Schorderet Daniel F, McLaughlin Precious J, Chung Daniel, Traboulsi Elias, Marmorstein Alan D

Abstract excerpt

Malattia Leventinese (ML), an inherited macular degenerative disease, is closely reminiscent of age-related macular degeneration (AMD), the most common cause of incurable blindness. Both ML and AMD are characterized by extracellular deposits known as drusen between the retinal pigment epithelium (RPE) and Bruch's membrane. The mechanism underlying drusen formation is unknown. An Arg to Trp mutation in a gene of...

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Source

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Identifiers

PMID: 12242346
DOI: 10.1073/pnas.202491599
PMCID: PMC130587

Genes

EFEMP1
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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Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.PMID 12242346Read ↗

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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 ↗

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in miceSemantic proximity Read ↗

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

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

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