Mesen, SelmaBatur, MuhammedOzer, Muhammet Derda2025-05-102025-05-1020240004-27491678-292510.5935/0004-2749.2022-00692-s2.0-85184781212https://doi.org/10.5935/0004-2749.2022-0069https://hdl.handle.net/20.500.14720/13900Ozer, Muhammet Derda/0000-0002-3954-270X; Mesen, Selma/0000-0002-5556-8635This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs.eninfo:eu-repo/semantics/openAccessMucolipidosisMyoclonusSialidosis Type 1TomographyOptical CoherenceGene Neu1A Novel Spot Mutation Leading To Sialidosis Type 1-Myoclonus Syndrome and Optical Coherence Tomography FindingsLetter875Q4Q3WOS:001153986400001