Spectral optical coherence tomography in a patient with type I sialidosis

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.