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

Purpose To describe the first reported case of non-proliferative Duchenne muscular dystrophy-associated retinopathy manifested as bilateral perifoveal ischemia. Methods This 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. Results BCVA 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. Conclusion DMD-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.