Abstract

FR.12.02

New findings in Fabry Disease

Giulia Renieri, Susanne Pitz
Department of Ophthalmology, Johannes Gutenberg-University Mainz

Fabry (or Fabry-Anderson) disease is a rare X-linked lysosomal storage disorder, caused by the deficiency of the lysosomal enzyme a-galactosidase A. This enzyme defect leads to an intracellular accumulation throughout the entire organism, and especially in the vascular endothelial cells. In the untreated male (hemizygous) the disorder leads to death in the fifth decade due to renal failure, progressive cardiomyopathy and cerebrovascular events. Since 2001 in Europe and 2003 in the USA, respectively, enzyme replacement has become available and shown to be clinically beneficial. The well-known ophthalmic features of this disorder comprise the characteristic cornea verticillata, conjunctival aneurysms, tortuous conjunctival and/or retinal vessels, and anterior and posterior subcapsular cataract. Recent findings suggesting the issue of a possible subclinical optic neuropathy in Fabry disease will be presented and discussed.

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