Early-onset drusen in Malattia Leventinese with

Areeba Shakeel, Darshan Bhatt, Sarangapani Sripriya, Dhanashree Ratra

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Article in Romanian journal of ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Areeba ShakeelDepartment of Vitreoretinal Diseases, Sankara Nethralaya, Chennai, India.

Darshan BhattDepartment of Vitreoretinal Diseases, Sankara Nethralaya, Chennai, India.

Sarangapani SripriyaSNONGC Department of Genetics and Molecular Biology, Sankara Nethralaya, Chennai, India.

Dhanashree RatraDepartment of Vitreoretinal Diseases, Sankara Nethralaya, Chennai, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 involved screening for an inherited retinal gene panel using the Illumina MiSeq platform for one case. Pedigree charting, blood collection, DNA extraction, and variant annotation were performed, followed by pathogenicity assessment of the identified variants using multiple bioinformatics tools. Results: All cases exhibited early-onset central vision loss and small, radially distributed drusen, consistent with ML/DHRD. Genetic analysis done in patient one revealed a heterozygous, autosomal dominant, pathogenic mutation (c.1033C>T p.ARG345Trp) in the Discussion: Malattia Leventinese is a rare autosomal dominant macular dystrophy caused by a single Conclusion: The identified pathogenic

Indexed as

Corneal Dystrophies, HereditaryDNAExtracellular Matrix ProteinsMacular DegenerationMutationRetinal DrusenDiagnosis, DifferentialDNA Mutational AnalysisFluorescein AngiographyFundus OculiHumansOptic Disk DrusenPedigreePhenotypeTomography, Optical CoherenceVisual AcuityDNAEFEMP1 protein, humanExtracellular Matrix ProteinsAMDAMD = Age-related macular degenerationARG = ArginineBCVA = best corrected visual acuityDHRD = Doyne honeycomb retinal dystrophyDoyne honeycomb dystrophyEarly onset drusenEFEMP1 = Epidermal growth factor-containing fibulin-like extracellular matrix protein 1EFEMP1 mutationEGF = Epidermal growth factorFAF = fundus autofluorescencemalattia leventineseML = Malattia LeventineseMNV = macular neovascularizationONH = optic nerve headORT = Outer retinal tubulationsRPE = retinal pigment epitheliumSSOCT = swept-source optical coherence tomographyTRP = TryptophanVEGF = vascular endothelial growth factor

Identifiers

PMID41971199

DOI10.22336/rjo.2025.93

PMCPMC13065107

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