DOG Deutsche Ophthalmologische Gesellschaft 105. DOG-Kongress
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Abstract

SO.19.03

Lysosomal storage disorders – new therapeutic options

Pitz S. 
Universitäts-Augenklinik, Johannes-Gutenberg-Universität Mainz

Lysosomal stoage diseases like M. Fabry, M. Niemann-Pick, M. Gaucher or themukopolysaccharidoses are rare. Nevertheless they are familiar to the ophthalmologists by their characteristic ocular features – Cornea verticillata, cherry red spot, gaze palsy, corneal clouding. Since the advent of enzyme replacement therapy, these disorders can be treated by means other than mere symptomatic therapy. This means a new challenge for the ophthalmologist: timely diagnosis will initiate early treatment and thus prevention of complications as well as improved quality of life. The presentation will give an overview over actual therapeutical concepts.

 
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