A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings Uma nova mutação pontual levando à sialidose tipo 1 - síndrome mioclônica e seus achados na tomografia de coerência óptica

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Meşen S., Batur M., Ozer M. D.

Arquivos Brasileiros de Oftalmologia, vol.87, no.5, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 87 Issue: 5
  • Publication Date: 2024
  • Doi Number: 10.5935/0004-2749.2022-0069
  • Journal Name: Arquivos Brasileiros de Oftalmologia
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, Veterinary Science Database
  • Keywords: Gene NEU1, Mucolipidosis, Myoclonus, Sialidosis type 1, Tomography, optical coherence
  • Van Yüzüncü Yıl University Affiliated: Yes


| This 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.