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Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?

  • Pediatrics
  • Published:
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Abstract

Background

To describe the ocular changes noted in seven patients with type VI mucopolysaccharidosis (MPS VI) during 44 months of follow-up while on enzyme replacement therapy (ERT).

Methods

One male and six female patients with MPS VI were followed-up for a mean period of 44 months while undergoing enzyme replacement therapy (ERT) with recombinant arylsulfatase B (Naglazyme™). They were examined annually for visual acuity, corneal clouding, intraocular pressure (IOP), optic nerve head and fundus morphology. Corneal clouding was documented by photography. We acknowledge that our methodology may not have been sensitive enough to detect extremely mild ocular changes, including minimal increases in corneal thickness or clouding. Nevertheless, this limitation has been considered in the interpretation of our findings.

Results

Ophthalmological findings remained stable in 5/7 patients. One patient experienced a modest improvement in visual acuity of more than 2 Snellen lines in one eye, while another patient suffered a deterioration in visual acuity of more than 2 Snellen lines in both eyes. Five out of seven patients showed optic nerve pathology: two of these exhibited optic nerve head swelling, while the other three showed variable degrees of optic nerve atrophy. All seven patients suffered from the typical corneal stromal opacities, however, to variable extents.

Conclusion

Visual function and ocular findings did not deteriorate in six out of seven MPS VI patients during a mean follow-up period of 3 and a half years on ERT.

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Acknowledgement

The authors have no commercial or proprietary interest in arylsulfatase B. The conduct of the ERT study was supported by BioMarin Pharmaceutical Inc, Novato, CA, USA and Genzyme Corporation, Cambridge, MA, USA. The sponsor had no role in collection, management, analysis and interpretation of the present data or preparation of the manuscript. M. Beck has received unrestricted scientific grants from Genzyme Corporation, Cambridge, MA, USA; Shire PLC, Boston, MA, USA; and BioMarin Pharmaceutical Inc, Novato, CA, USA.

SP had full access to all the data in the study, and takes responsibility for the integrity of the data and the accuracy of the data analysis.

The follow-up data of patient #3 were kindly provided by Christina Pieh, MD, Paediatric Ophthalmology Unit, University Eye Hospital, Freiburg, Germany.

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Authors and Affiliations

  1. Department of Ophthalmology, Johannes Gutenberg University, Langenbeckstr. 1, 55101, Mainz, Germany

    Susanne Pitz

  2. Department of Ophthalmology, University College Hospital, Ibadan, Nigeria

    Olufunmilola Ogun

  3. Children’s Hospital, Johannes Gutenberg University, Mainz, Germany

    Laila Arash, Elke Miebach & Michael Beck

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  1. Susanne Pitz
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  2. Olufunmilola Ogun
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  4. Elke Miebach
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  5. Michael Beck
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Correspondence to Susanne Pitz.

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Pitz, S., Ogun, O., Arash, L. et al. Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?. Graefes Arch Clin Exp Ophthalmol 247, 975–980 (2009). https://doi.org/10.1007/s00417-008-1030-1

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  • DOI: https://doi.org/10.1007/s00417-008-1030-1

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