Abstract

P 155

MPS II – ocular changes – the Mainz experience

Maximilian Hahner1, Susanne Pitz2, Norbert Pfeiffer1
1Universitäts-Augenklinik Mainz, 2Neuroophthalmologie, Universitäts-Augenklinik Mainz

Objective
Patients suffering from mucopolysaccharidosis (MPS) type II - M. Hunter - typically exhibit a variety of ophthalmologic abnormalities. The most important are swelling and/or atrophy of the optic nerve, glaucoma and tapetoretinal degeneration. In contrast to the other MPS subtypes, corneal clouding is not at predominant finding in MPS II.
Methods
We retrospectively analyzed the charts of 37 male patients with a mean age of 12 years suffering from MPS II, focussing on visual acuity, refraction error, visual field, intraocular pressure (IOP), slit-lamp investigation and funduscopy. All of them were under enzyme replacement therapy (ERT).
Results
Best corrected visual acuity in the better eye was 0.8. Mean refractive error was +2,5dpt. A corneal clouding was seen in 2 patients (6%), a pathologic appearance of the optic nerve in 8 patients (24%). One patient had an atrophy of optic nerve (3%), four patients a blurring of optic nerve head (11%) and three patients a papilledema (8%). Off note, tapetoretinal degeneration was detected in 5 patients (15%). None of our patients suffered from increased IOP, mean intraocular pressure was 14mmHg.
Conclusions
This series of MPS II patients shows the typical spectrum of ophthalmologic complications¹. However, cornea clouding and optic nerve abnormalities are less common in MPSII. Functional and morphological findings seem to be stable under ERT.

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