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.
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. OCT revealed increased reflectivity in the ganglion cell layer in both maculae without a definite boundary between the hyperreflective and normal areas. These findings suggested that lipofuscin had accumulated in the retinal ganglion cells, which is a distinctive ocular feature in metabolic central nervous system (CNS) disorders. He was later confirmed with genetic sialidosis.