Corneal confocal microscopy detects neuropathy in patients with Fabry disease

Abstract

Purpose: Neuropathy is a cause of significant disability in patients with Fabry disease, yet its diagnosis is difficult. We have compared the novel non-invasive techniques of corneal confocal microscopy (CCM) and non-contact corneal aesthesiometry (NCCA) with established tests of nerve damage in patients with Fabry disease.-- Method: Ten heterozygous females with Fabry disease not on Enzyme Replacement Therapy (ERT), six heterozygous females and six hemizygous males on ERT underwent detailed quantification of neuropathic symptoms, neurological deficits, neurophysiology, quantitative sensory testing (QST), CCM and NCCA.-- Results: All patients with Fabry disease had significant neuropathic symptoms and an elevated Mainz score. Peroneal nerve amplitude was reduced in all patients and vibration perception threshold was elevated in both male and female patients on ERT. Cold sensation (CS) threshold was significantly reduced in both male and female patients on ERT compared to control subjects. Furthermore, the severity of neuropathic symptoms and the neurological component of the Mainz score correlated significantly with QST and CCM. Conclusions: This study shows that CCM and NCCA provide a novel and sensitive means to detect early nerve fibre damage in patients with Fabry disease