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.

Keywords: Retina - pathology, Neuraminidase - blood, Mucolipidoses - pathology, Fluorescein Angiography, Spectrometry, Fluorescence, Tomography, Optical Coherence - methods