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Article

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

American journal of medical genetics. Part A - 1 Jan 2025

Chacon-Camacho Oscar F, Ordaz-Robles Thania, Cid-García Marion A, Yepes-Rodríguez Olivia, Arce-González Rocio, Martínez-Aguilar Alan, Zenteno Juan Carlos

Abstract excerpt

Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant...

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Source

Identifiers

PMID: 39264138
DOI: 10.1002/ajmg.a.63869

Genes

EFEMP1
EGF

Variants

Provenance

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

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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.PMID 39264138Read ↗

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