Evidence map›Paper›PMID 42373939›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2026

Bilateral perifoveal macular ischemia in non-proliferative Duchenne muscular dystrophy-associated retinopathy: a case report.

Rodrigo Hideharo Sato, Mirella Barboni, Gustavo Sakuno, Alódia Brasil, Sarah Leonardo Dias, Edmar Zanoteli, Dora Fix Ventura, Leandro Cabral Zacharias

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Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. 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

8 authors.

Rodrigo Hideharo SatoDepartment of Ophthalmology, University of Sao Paulo, 255 Dr. Enéas de Carvalho Aguiar Avenue, São Paulo, SP, 05403000, Brazil. rodrigo.sato@hc.fm.usp.br.
Mirella BarboniDepartment of Ophthalmology, Semmelweis University, Budapest, Hungary.
Gustavo SakunoDepartment of Ophthalmology, University of Sao Paulo, 255 Dr. Enéas de Carvalho Aguiar Avenue, São Paulo, SP, 05403000, Brazil.
Alódia BrasilDepartment of Experimental Psychology, Institute of Psychology, University of Sao Paulo, São Paulo, Brazil.
Sarah Leonardo DiasDepartment of Experimental Psychology, Institute of Psychology, University of Sao Paulo, São Paulo, Brazil.
Edmar ZanoteliDepartment of Neurology, University of Sao Paulo, São Paulo, Brazil.
Dora Fix VenturaDepartment of Experimental Psychology, Institute of Psychology, University of Sao Paulo, São Paulo, Brazil.
Leandro Cabral ZachariasDepartment of Ophthalmology, University of Sao Paulo, 255 Dr. Enéas de Carvalho Aguiar Avenue, São Paulo, SP, 05403000, Brazil.

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 314630/2020-1Fundação de Amparo à Pesquisa do Estado de São Paulo 2021-05442-8Fundação de Amparo à Pesquisa do Estado de São Paulo 2022-00191-0Fundação de Amparo à Pesquisa do Estado de São Paulo 2023-07925-1Fundação de Amparo à Pesquisa do Estado de São Paulo 2023-08095-2
6 · The paper itself

Abstract

purposeTo describe the first reported case of non-proliferative Duchenne muscular dystrophy-associated retinopathy manifested as bilateral perifoveal ischemia.

methodsThis observational case report details a 21-year-old male with genetically confirmed Duchenne muscular dystrophy (DMD) who presented with bilateral visual decline. A comprehensive ophthalmic evaluation was performed including best-correct visual acuity (BCVA) assessment, slit-lamp biomicroscopy, dilated fundus examination, full-field and multifocal electroretinography (ERG) in accordance with ISCEV standards and ERGs to sawtooth modulation, structural spectral-domain optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in both eyes.

resultsBCVA was 20/40 in both eyes. Anterior segment examination revealed bilateral posterior subcapsular cataracts, while dilated fundoscopic examination was unremarkable. Multifocal ERG demonstrated reduced amplitudes in the central and parafoveal rings, indicating localized retinal dysfunction. OCTA disclosed bilateral, irregular enlargement of the foveal avascular zone consistent with perifoveal ischemia. These vascular abnormalities corresponded to the areas of inner retinal thinning with secondary outer nuclear layer expansion in structural OCT.

conclusionDMD-associated retinopathy may present with retinal ischemia in the absence of overt fundoscopic abnormalities. Multimodal structural and functional modalities including multifocal ERG, OCT and OCTA may be critical to the early detection of subclinical ischemic changes and for identifying patients at risk of progression to proliferative retinopathy.

Indexed as

Case reportDuchenne muscular dystrophyElectroretinogramNon-proliferative retinopathyOCTARetina

Identifiers

PMID42373939

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