Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Romanian journal of ophthalmology - 1 Jan 2025

Shakeel Areeba, Bhatt Darshan, Sripriya Sarangapani, Ratra Dhanashree

Abstract excerpt

Purpose: To study the clinical, genetic, and phenotypic aspects of Malattia Leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD) and to differentiate it from age-related macular degeneration (AMD). Methods: Three cases of ML/DHRD from the Indian population were evaluated, including fundus examination, fundus autofluorescence (FAF), and swept-source optical coherence tomography (SSOCT). Genetic investigations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Corneal Dystrophies, Hereditary
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Fundus Oculi

Share to Macular Degeneration

Share to Retinal Drusen

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 41971199
DOI: 10.22336/rjo.2025.93
PMCID: PMC13065107

Genes

EFEMP1
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-onset drusen in Malattia Leventinese with EFEMP1 mutation differ from drusen in age-related macular degeneration.PMID 41971199Read ↗

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 ↗

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

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

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

Multimodal imaging of autosomal dominant drusen.Semantic proximity Read ↗

Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT.Semantic proximity Read ↗

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

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.