Abstract
BackgroundStargardt disease (STGD) and age-related macular degeneration (AMD) share clinical and pathophysiological features. In AMD, macular hyperpigmentary changes are associated to a worse prognosis. The purpose of this study was to characterize macular hyperpigmentary changes in patients with STGD and associate them with the severity of phenotype.Materials and methodsThis retrospective cross-sectional study included 141 patients with STGD. Hyperpigmentary changes were evaluated on color fundus photography and spectral-domain optical coherence tomography. Severity of phenotype was assessed by full-field electroretinogram (ffERG) and fundus autofluorescence (FAF) patterns, and visual acuity (VA).ResultsThirty patients (21.7%) showed macular hyperpigmentary changes in four distinct patterns. Out of seventeen patients who had follow-up images, eleven patients demonstrated increases of the hyperpigmented lesions, and progression of the underlying RPE atrophy overtime. VA remained stable. Of 28 patients who had ffERG, 17 patients presented with reduction of photopic and scotopic responses, while 8 presented with reduction of photopic responses only, and 3 presented with preserved photopic and scotopic responses. Of 25 patients who had FAF available, 12 presented with widespread disease extending anteriorly to the vascular arcades, while eight presented with widespread disease, extending beyond the vascular arcades, and 5 presented with disease confined to the foveal area.ConclusionIn this study, we demonstrated that patients with STGD with macular hyperpigmented lesions had a severe phenotype. Overtime, hyperpigmented lesions increased in size, spread across the retina, and migrated to different retinal layers. Macular hyperpigmentation may be a marker of advanced stage of the disease.
Highlights
Macular atrophy is a manifestation of Stargardt disease (STGD) and of age-related macular degeneration (AMD) [1]
Of 28 patients who had full-field electroretinogram (ffERG), 17 patients presented with reduction of photopic and scotopic responses, while 8 presented with reduction of photopic responses only, and 3 presented with preserved photopic and scotopic responses
In this study, we demonstrated that patients with STGD with macular hyperpigmented lesions had a severe phenotype
Summary
Macular atrophy is a manifestation of Stargardt disease (STGD) and of age-related macular degeneration (AMD) [1]. STGD and AMD share common features, such as decreased central vision, bilaterality, and macular atrophy. In STGD, the macular atrophy is usually symmetric and may be accompanied by flecks [8, 9]. Two prognostic factors have been associated with disease progression: fundus autofluorescence (FAF) and full-field electroretinogram (ffERG) patterns at baseline [10, 11]. Stargardt disease (STGD) and age-related macular degeneration (AMD) share clinical and pathophysiological features. In AMD, macular hyperpigmentary changes are associated to a worse prognosis. The purpose of this study was to characterize macular hyperpigmentary changes in patients with STGD and associate them with the severity of phenotype
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