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AbstractSO.19.03 Lysosomal storage disorders new therapeutic options Pitz S. 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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