INTERMEDIATE UVEITIS AND VITRITIS IN M. GAUCHER. CAUSAL TREATMENT WITH ALGLUCERASE-SUBSTITUTION-THERAPY
K. Dann1, C. Althaus1, S. vom Dahl2
Background: Gauchers disease, a sphingolipidose transmitted by autosomal recessive inheritance, is caused by a deficiency of the lysosomal enzyme 8- glucocerebrosidase which is responsible for hydrolysation of glucocerebroside to ceramid and glucose. Thus glucocerebroside is accumulated in the reticuloendothelial cells of spleen, liver and bone marrow and pathognomonic Gauchers cells are formed. Three clinical types can be distinguished: the visceral form (adult form = type I), neuronopathic form ( infantile type = type II) and the subacute neuronopathic form (juvenile type = Type III). Ocular involvement according to M. Gaucher represented by vitreous opacities was first described in the sixties. No causal treatment was possible so far.
Case report: We present a 42-year-old female patient with left-sided intermediate uveitis of unknown origin and decreasing visual acuity to perception of hand movements and intact projection of light since September 1996. A thorough medical examination revealed advanced M. Gaucher (Type I). Intravenous therapy with alglucerase was administered promptly, first to induce and then to keep up sufficient enzyme levels. After five months treatment vitreous opacities resolved almost completely and visual acuity increased 0,7.
Discussion: The improvement under the treatment with alglucerase and not reacting to steroids intermediate uveitis with severe vitritis can be connected with M. Gaucher. To the best of our knowledge, this is the first case of M. Gaucher presenting initially an intermediate uveitis and showing successful clinical improvement during administration of alglucerase.
1Eye Hospital, Heinrich-Heine-University, Moorenstr. 5, D-40225 Düsseldorf
2Clinic of Gastroenterology, Hepatology and Infectious Diseases, Heinrich-Heine-University, Moorenstr. 5, D-40225 Düsseldorf