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Corneal confocal microscopy : a novel noninvasive means to diagnose neuropathy in patients with Fabry disease

Tavakoli, Mitra, Marshall, Andrew, Thompson, Lorraine, Kenny, Margaret, Waldek, Stephen, Efron, Nathan, & Malik, Rayaz A. (2009) Corneal confocal microscopy : a novel noninvasive means to diagnose neuropathy in patients with Fabry disease. Muscle & Nerve, 40, pp. 976-984.

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Abstract

ABSTRACT: Neuropathy is a cause of significant disability in patients with Fabry disease, yet its diagnosis is difficult. In this study we compared the novel noninvasive techniques of corneal confocal microscopy (CCM) to quantify small-fiber pathology, and non-contact corneal esthesiometry (NCCA) to quantify loss of corneal sensation, with established tests of neuropathy in patients with Fabry disease. Ten heterozygous females with Fabry disease not on enzyme replacement therapy (ERT), 6 heterozygous females, 6 hemizygous males on ERT, and 14 age-matched, healthy volunteers underwent detailed quantification of neuropathic symptoms, neurological deficits, neurophysiology, quantitative sensory testing (QST), NCCA, and CCM. 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 (P < 0.02), but warm sensation (WS)and heat-induced pain (HIP) were only significantly increased in males onERT (P<0.01). However, corneal sensation assessed withNCCAwas significantly reduced in female (P < 0.02) and male (P < 0.04) patients on ERT compared with control subjects. According to CCM, corneal nerve fiber and branch density was significantly reduced in female (P < 0.03) and male (P < 0.02) patients on ERT compared with control subjects. Furthermore, the severity of neuropathic symptoms and the neurological component of the Mainz Severity Score Index correlated significantly with QSTand CCM. This study shows that CCM and NCCA provide a novel means to detect early nerve fiber damage and dysfunction, respectively, in patients with Fabry disease.

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ID Code: 28987
Item Type: Journal Article
Keywords: corneal confocal microscopy, Fabry Disease, neuropathy small fibers, corneal nerves, neurodegeneration
DOI: 10.1002/mus.21383
ISSN: 0148-639X
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > OPTOMETRY AND OPHTHALMOLOGY (111300)
Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > OPTOMETRY AND OPHTHALMOLOGY (111300) > Optometry and Ophthalmology not elsewhere classified (111399)
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Current > Schools > School of Optometry & Vision Science
Copyright Owner: Copyright 2009 John Wiley & Sons
Deposited On: 08 Jan 2010 12:37
Last Modified: 01 Mar 2012 00:08

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