Abstract

DO.08.07

Ultrastructural investigations of cornea and conjunctiva of patients with M. Fabry-Anderson using confocal in-vivo-microscopy

Falke K.¹, Büttner A. M.¹, Schittkowski M.¹, Rolfs A.², Guthoff R.^1
1Eye Clinic of the University of Rostock, ²Department of Neurology, Univerity of Rostock

Objective: The objective of the study is gaining informations about the characteristic morphology of cornea verticillata using confocal in-vivo-microscopy and clarify gender-related differences and the diagnostic value of this approach as early-diagnosis- and screening-tool for patients with M. Fabry and their relatives. Further we try to clear the acceptability of confocal-in-vivo-microscopy of cornea verticillata and conjunctiva of patients with M. Fabry undergoing enzyme-replacement-therapy as a tool of measuring effectivness and as therapy-monitoring.
Methods: We investigated the eyes of 20 molecular-genetical firmed patients with M. Fabry by slitlamp as well by confocal microscopy using the Heidelberg Retina Tomograph (HRT II) in combination with Rostock Cornea Modul (RCM). 15 of the patients were female, 5 were male. As comparison group we investigated 10 healthy persons without cornea verticillata.
Results: 6 of the 15 women showed a cornea verticillata and 2 of the 5 men, i.e. 40 percent. All these patients offered ultrastructural changes of cornea. The corneal basal epithelial layer is the main carrier of the observed changes. The characteristic pattern is built by strongly hyperreflective basal epithelial cells. Gender-related differences could not be observed. Patients without cornea verticillata also did not show pathological confocal findings. In the confocal in-vivo-microscopy of the tarsal conjunctiva already healthy persons showed hyperreflective punctiform structrures, who can be find in an increased number in patients with M. Fabry.
Conclusions: In confocal in-vivo-microscopy pathologic findings can only be found, if there is a cornea verticillata. Insofar the method is not a suitable screening-tool. The value of this approach for therapy-monitoring can be revealed only after the investigation of a greater number of cases.

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