Abstract

P 008

Does enzyme replacement therapy have an effect on the ocular changes in type VI mucopolysaccharidosis?

Kilian Schöpfer, Elke Miebach, Susanne Pitz
Universitäts-Augenklinik Mainz

Objective
An enzyme replacement therapy (ERT) treating only a small number of patients with muco-polysaccharidosis (MPS) has been available for a couple of years. Changes in ocular symp-toms are not yet known to occur.
Methods
One male and six female patients at the ages of 7 to 29 years with MPS VI, undergoing en-zyme replacement therapy with recombinant arylsulfatase B (NaglazymeTM), were followed-up for a mean period of 44 months. We examined the patients annualy for visual acuity, in-traocular pressure (IOP), optic disc and fundus morphology as well as corneal clouding. Cor-neal clouding was documented by photography.
Results
We didn’t assess any changes in 5 out of 7 patients concerning the ophthalmological findings. One patient showed a deterioration in visual acuity of more than 2 Snellen lines in both eyes, whereas another patient attained a modest improvement in visual acuity of more than 2 Snel-len lines in one eye. Five out of seven patients showed optic nerve pathology: two of these exhibited optic disc swelling, the other three showed variable degrees of optic nerve atrophy. All seven patients suffered from the typical corneal stromal opacity, each case in variable pecularity.
Conclusions
Basically visual function and ocular findings were stable in six out of seven MPS VI patients during a mean follow-up period of 3 and a half years on ERT. Regarding the small number of patients (MPS VI is the rarest type of MPS in Germany) it cannot be decided if this stabiliza-tion is due to the therapeutic effect or simply reflects the diseases` natural course.

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