Corneal confocal microscopy in Fabry patients with cornea verticillata

Purpose To study the changes in corneal microstructure and nerve fibers in patients with cornea verticillata in Fabry disease. Material and methods The study included patients with a confirmed diagnosis of Fabry disease. All patients underwent standard ophthalmological examination. Corneal confocal microscopy was performed when slit-lamp examination revealed cornea verticillata. Results Cornea verticillata was found in 64.5% of patients. Corneal microscopy revealed hyperreflective deposits in the basal cell layer of corneal epithelium in all patients with cornea verticillata. Characteristic features were desquamation of epithelial cells with islands of epithelial cells deficiency, as well as hyperreflective intracellular deposits in the basal layer. Changes in keratocytes in the form of perinuclear white microdots were found in the stroma of 25.8% of patients. Endothelial layer was not changed and had normal cell density, reflectivity and morphology in all patients with cornea verticillata. Conclusion Corneal confocal microscopy is a valuable diagnostic tool in patients with Fabry disease and may be important in evaluation of disease progression and monitoring of treatment efficacy.