ArticleAmerican journal of ophthalmology case reports2025
Evolution of vitelliform maculopathy in a pediatric patient with a homozygous
Article in American journal of ophthalmology case reports, 2025. 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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Abstract
Background: Retinitis pigmentosa 1-like 1 maculopathy is a term that has recently been coined to describe macular diseases with evident ophthalmoscopic findings caused by pathogenic variants in Purpose: To report a case of vitelliform maculopathy in a pediatric patient with a homozygous Methods: Case report. Results: An asymptomatic 8-year-old male presented with outer retinal thickening and foveal subretinal deposits on optical coherence tomography (OCT), which progressed to vitelliform lesions in both eyes. In one eye, the hyperreflective material partially reabsorbed two years after its appearance. Genetic testing identified a homozygous likely pathogenic variant in the Conclusions: Pathogenic variants in
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