Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease

Fabry disease is characterised by neuropathic pain and accelerated vascular disease. This study evaluates the utility of corneal confocal microscopy (CCM) to non-invasively quantify corneal nerve and endothelial cell morphology and dendritic cell (DC) density in relation to disease severity in subjects with Fabry disease. Seventeen consecutive participants with Fabry disease and 17 healthy control subjects were included in this cross-sectional study. Fabry disease severity was measured using the Mainz Severity Score Index (MSSI). Central corneal sensitivity was assessed with a contact corneal esthesiometer. There was a significant reduction in the corneal sensitivity (5.75 [5.25-6.00] vs. 6.00 [6.00-6.00] cm, P = 0.014), nerve fiber density (NFD) (26.4 +/- 10.1 vs. 33.7 +/- 7.9 fibers/mm(2), P = 0.025) and nerve fiber length (NFL) (15.9 +/- 3.4 vs. 19.5 +/- 4.4 mm/mm(2), P = 0.012) and an increase in DC density (38.3 [17.5-97.3] vs. 13.5 [0-29.4] cells/mm(2), P = 0.004) in subjects with Fabry disease compared to the healthy control subjects. The total MSSI score correlated with NFD (rho = -0.686; P = 0.006), NFL (rho = -0.692; P = 0.006), endothelial cell density (rho = -0.511; P = 0.036), endothelial cell area (rho = 0.514; P = 0.036) and alpha-galactosidase A enzyme activity (rho = -0.723; P = 0.008). This study demonstrates reduced corneal sensitivity, corneal nerve fiber damage and increased DCs in subjects with Fabry disease.