1. Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis

    Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis

    Background Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and optical coherence tomography (OCT) images of a juvenile patient who presented with vision decrease and was later confirmed with genetic sialidosis. Case presentation A 13-year-old Chinese male presented with bilateral decreased vision over the past 2 years before his initial visit. Funduscopic examination revealed a macular cherry-red bilateral spot. FAF showed hyperreflective areas surrounding a central hyporeflective fovea in both eyes ...

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