Spectral optical coherence tomography in a patient with type I sialidosis

Med Sci Monit. 2011 Oct;17(10):CS129-31. doi: 10.12659/msm.881971.


Background: The aim of our study was to analyze spectral optical coherence tomography (SD-OCT) findings in a patient with clinical signs of sialidosis.

Case report: Fluorescein angiography and spectral optical coherence tomography was performed in a 37-year-old woman using a SD-OCT device with axial resolution of 6 µm. Enzyme assay followed. The patient was diagnosed with type I sialidosis by enzymatic assay. Besides a normal angiogram, a thickened nerve fiber layer was observed on spectral optical coherence tomography.

Conclusions: The thickened nerve fiber layer was probably caused by accumulation of metabolic products such as sialylated oligosaccharides and glycopeptides, suggesting that SD- OCT, due to its enhanced resolution, can be a useful tool for diagnosis of rare neurological conditions.

Publication types

  • Case Reports
  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Fluorescein Angiography
  • Humans
  • Mucolipidoses / blood
  • Mucolipidoses / diagnosis*
  • Mucolipidoses / pathology*
  • Neuraminidase / blood*
  • Retina / pathology*
  • Spectrometry, Fluorescence
  • Tomography, Optical Coherence / methods*


  • Neuraminidase