The First Case Series of Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy in Türkiye Identified with EFEMP1 Gene Mutation.

doi:10.4274/tjo.galenos.2026.22892

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The First Case Series of Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy in Türkiye Identified with EFEMP1 Gene Mutation.

Turkish journal of ophthalmology - 26 Aug 2026

İşbilir Atakan, Güzel Ahmet, Kocabey Mehmet, Çağlayan Ahmet Okay, Kartı Ömer, Ayhan Ziya, Saatci Ali Osman

Abstract excerpt

This report aims to describe the clinical characteristics of the first Turkish family diagnosed with Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD) associated with an EFEMP1 mutation. Four affected individuals from the same family (one male and three females; aged 25, 51, 53, and 73 years) underwent comprehensive ophthalmological evaluation. The assessment included best-corrected visual acuity,...

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Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Extracellular Matrix Proteins
Fluorescein Angiography
Pedigree
Tomography, Optical Coherence

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Turkey

Visual Acuity

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Identifiers

PMID: 42644559
DOI: 10.4274/tjo.galenos.2026.22892
PMCID: PMC13514489

Genes

EFEMP1

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