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Karen Falke, Marina Hovakimyan, Andrey Zhivov, Oliver Stachs, Arndt Rolfs, Rudolf F. Guthoff; Morphological Changes in The cornea of Fabry Disease Patients - a Confocal Laser-Scanning Microscopy in vivo Study. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1472.
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The purpose of this study was to evaluate and compare corneal sensitivity and morphology of epithelial cell layers and nerve fibers in Fabry patients with or without enzyme replacement therapy (ERT). For comparison, examinations were also conducted in patients receiving amiodarone therapy and in healthy volunteers. It was of further interest to investigate whether in-vivo confocal laser-scanning microscopy (CLSM) is useful for monitoring of effects of ERT.
Ten normal subjects, 30 patients with Fabry disease confirmed by molecular genetic studies (five of them were monitored during the course of ERT), and 11 patients receiving amiodarone were examined by slit-lamp microscopy and in-vivo CLSM with following three-dimensional reconstruction of the individual corneal layers. The findings were scored based on grading system for cornea verticillata based on slit-lamp findings as well as following in-vivo CLSM. The quantitative evaluation of subbasal nerve fiber structures was performed.
Corneal sensitivity was slightly reduced in two Fabry patients. Consistently, in both patients alterations of corneal nerve fibres and reduction in their density were observed. Evidence of cornea verticillata was found by slitlamp microscopy both in patients with Fabry disease and in those with amiodarone-induced keratopathy. In both groups in vivo CLSM revealed hyperreflective intracellular deposits in the basal epithelial cell layer of the cornea. In patients receiving amiodarone cornea verticillata were observed from the beginning and during the entire therapie. A complete regression of hyperreflective cellular inclusions after the termination of therapy was demonstrated with in vivo CLSM. No significant alterations or regression of intracellular deposits could be observed in Fabry patients following ERT.
The microstructural changes of the corneal epithelium and nerve fibres associated with Fabry disease could be successfully visualized in vivo by CLSM. In-vivo detection of ocular manifestations has the potential to aid the diagnosis of Fabry disease and to monitor changes over time.
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