97th DOG Annual Meeting 1999
K691
MUCOPOLYSACCHARIDOSIS TYPE MPS I-S (SCHEIE SYNDROME) - CLINICAL AND HISTOPATHOLOGICAL FINDINGS IN A CASE WITH TYPICAL OCULAR MANIFESTATIONS
C.-A. Lackerbauer, K. R. Kenyon, F. H. Stefani, G. Rudolph
Mucopolysaccharidosis type MPS I-S represents a rare, autosomal-recessive inherited, metabolic disease with storage characteristics. Only few proven cases with ocular manifestations have been described.
Material and methods: The ophthalmological and systemic findings of a 33-year old male patient suffering from MPS type I-S will be presented. The diagnosis is confirmed by slit-lamp examination, perimetric and electrophysiological findings as well as biochemical analysis and histology and electron microscopy of conjunctival biopsy.
Results: With a reduced stature (164cm), the patient presents flexion contractures of the distal interphalangeal joints on both hands and feet. Fine punctated corneal stromal opacity increasing from the center to the periphery can be demonstrated as well as circular retinal pigmentary degeneration in the 50º area. In the perimetric examination a concentric visual field of ±10º is seen on both sides. The amplitudes in the scotopic and photopic ERG are reduced up to 60%. The level of mucopolysaccharides in the 24-hour urine (7,98mmolUA/molCr) is ten times normal (0,67mmolUA/molCr). Fibroblasts of the dermis demonstrate normal activity of b-Galactosidase but a total lack of a-L-Iduronidase. Histology of the conjunctiva presents a typical conglomeration of storage vacuoles in between of the epithelial and the stromal cell layers. With transmission electron microscopy, histiocytes with a large number of lysosomal storage vacuoles can be recognized.
Conclusion: Clinical and histopathological findings of this rare metabolic disorder will be demonstrated. The therapeutical possibilities to preserve visual activity will be discussed.
University Eye-Hospital, Ludwig - Maximilians - University, Munich, Germany
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