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Article

A review of the role of EFEMP1 in ophthalmic disease.

Ophthalmic genetics - 1 Dec 2025

Wood Alex J, Livingstone Imogen, Westcott Mark, Furniss Dominic, Wiberg Akira

Abstract excerpt

EGF-containing fibulin extracellular matrix protein 1 (EFEMP1), or fibulin-3, is an extracellular matrix glycoprotein encoded by the EFEMP1 gene. The role of EFEMP1 in the human eye is incompletely understood, but there are well-reported associations between mutations in the gene and a variety of ophthalmic diseases, such as myopia, juvenile open-angle glaucoma (JOAG), primary open-angle glaucoma (POAG) and...

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Source

Identifiers

PMID: 40640104
DOI: 10.1080/13816810.2025.2524511

Genes

EFEMP1
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

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A review of the role of EFEMP1 in ophthalmic disease.PMID 40640104Read ↗

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 ↗

EFEMP1 Overexpression Contributes to Neovascularization in Age-Related Macular DegenerationSemantic proximity Read ↗

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

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

Advances in the genomics of common eye diseases.Semantic proximity Read ↗

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

EFEMP1 contributes to light-dependent ocular growth in zebrafishSemantic proximity Read ↗

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

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).Semantic proximity Read ↗

Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia.Semantic proximity Read ↗

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

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