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Updated: Jun 26, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?
Susanne Pitz1, Olufunmilola Ogun, Laila Arash
1Department of Ophthalmology, Johannes Gutenberg University, Mainz, Germany. pitz@augen.klinik.uni-mainz.de
Summary
Enzyme replacement therapy (ERT) for mucopolysaccharidosis type VI (MPS VI) showed stable ocular findings in most patients. ERT with recombinant arylsulfatase B did not worsen vision or eye health in six of seven MPS VI patients over 3.5 years.
Area of Science:
- Ophthalmology
- Genetics
- Biochemistry
Background:
- Mucopolysaccharidosis type VI (MPS VI) is a rare genetic disorder.
- Ocular manifestations are common in MPS VI patients.
- Enzyme replacement therapy (ERT) is a treatment option for MPS VI.
Purpose of the Study:
- To evaluate ocular changes in MPS VI patients undergoing ERT.
- To assess the long-term effects of ERT on vision and eye structures in MPS VI.
Main Methods:
- Follow-up of seven MPS VI patients (1 male, 6 female) for a mean of 44 months on ERT.
- Annual ophthalmological examinations including visual acuity, intraocular pressure, and fundus morphology.
- Corneal clouding documented by photography; methodology limitations acknowledged.
Main Results:
- Ophthalmological findings remained stable in 5/7 patients.
- One patient improved visual acuity; another experienced deterioration in both eyes.
- Optic nerve pathology (swelling or atrophy) observed in 5/7 patients; all had corneal opacities.
Conclusions:
- Six out of seven MPS VI patients showed no deterioration in visual function or ocular findings during ERT.
- ERT appears to stabilize ocular health in most MPS VI patients over a mean follow-up of 3.5 years.
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