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

Abstract excerpt

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...

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