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Br J Ophthalmol. 2019 Apr;103(4):504-510. doi: 10.1136/bjophthalmol-2017-311749. Epub 2018 Aug 17.

Variability in the ocular phenotype in mucopolysaccharidosis.

Author information

1
Manchester Academic Health Science Centre, Manchester Royal Eye Hospital, Manchester, UK.
2
Division of Pharmacy and Optometry, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
3
Division of Evolution and Genetics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
4
Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.
5
Manchester Academic Health Science Centre, Manchester Royal Eye Hospital, Manchester, UK jane.ashworth@mft.nhs.uk.

Abstract

PURPOSE:

Mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. Ocular complications (such as corneal clouding, retinopathy and optic neuropathy) are common. Notably, there is a paucity of data on the effect of genotype and systemic treatments (enzyme replacement therapy or haematopoietic stem cell transplantation) on the ocular phenotype in MPS. We prospectively studied the ocular features of patients with MPSI (Hurler/Hurler-Scheie/Scheie), MPSIV (Morquio) and MPSVI (Maroteaux-Lamy), to evaluate the effect of different therapeutic interventions and to correlate the findings with genetic and biomarker data.

METHODS:

Prospective observational cohort study. Study participants underwent detailed ocular examination including visual acuity; assessment of corneal clouding (Iris camera Corneal Opacification Measure score and Pentacam densitometry) and retinal and optic nerve imaging (optical coherence tomography and wide-field fundus imaging). Data on genotype, biomarkers and delivered therapies (type and length of treatment) were also collected for each patient where available.

RESULTS:

Overall, 21 patients with MPSI, 4 patients with MPSIV and 3 patients with MPSVI were recruited. Corneal clouding scores were higher in MPSI compared with MPSIV and MPSVI. Retinopathy was evident in patients with MPSI only. Association was observed between corneal clouding and biomarkers in MPSI, MPSIV and MPSVI. However, no clear association was seen between genotype or treatment type and ocular phenotype.

CONCLUSIONS:

The ocular phenotype in MPS is variable, with corneal clouding occurring in MPSI, MPSIV and MPSVI, and retinopathy in MPSI only. There was an association between corneal clouding and efficacy of systemic treatment as measured by biomarkers.

KEYWORDS:

Cornea; genetics; imaging; retina; vision

Conflict of interest statement

Competing interests: JA reports grants from Biomarin Ltd, during the conduct of the study; personal fees from Biomarin Ltd, personal fees from Inventiva, personal fees from AbbVie, outside the submitted work. TA reports grants from Biomarin, during the conduct of the study. SJ reports personal fees and non-financial support from Biomarin, outside the submitted work. AG reports personal fees from Alexion Pharmaceuticals, non-financial support from Biomarin Pharmaceuticals, non-financial support from Shire Pharmaceuticals, outside the submitted work. PS has nothing to disclose. AJ has nothing to disclose. KS reports grants from Biomarin, during the conduct of the study (research grant awarded to Jane Ashworth and paid to institution).

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