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Acta Ophthalmol. 2018 Aug;96(5):494-498. doi: 10.1111/aos.13627. Epub 2017 Dec 14.

The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).

Author information

1
Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Manchester, UK.
2
Faculty of Medical and Human Sciences, Centre for Ophthalmology and Vision Sciences, Institute of Human Development, University of Manchester, Manchester, UK.
3
Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, CMFT, Manchester, UK.
4
Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Manchester, UK.

Abstract

PURPOSE:

To determine whether the ocular phenotype in patients with mucopolysaccharidosis type I (MPSI) Hurler is affected by the efficacy of previous haemopoietic stem cell transplantation (HSCT).

DESIGN:

A retrospective cohort study of patients with MPSI who had undergone treatment with HSCT.

METHODS:

Ocular phenotype was documented for each patient and compared to levels of biomarkers representing efficacy of previous transplantation.

MAIN OUTCOME MEASURES:

Assessment of visual acuity (VA), severity of corneal clouding and the presence of optic neuropathy or retinopathy. Biomarker assessment included dermatan sulphate/chondroitin sulphate (DS/CS) ratio and iduronidase enzyme level.

RESULTS:

Severe corneal clouding was significantly greater in patients with lower iduronidase levels (p = 0.023) and raised DS/CS ratio (R2  = 0.28 p = 0.043). Better VA was related to a higher iduronidase levels (R2  = 0.15, p = 0.004) and lower DS/CS ratio (R2  = 0.38, p = 0.001).

CONCLUSION:

Improved ocular phenotypes in MPSI are associated with markers signifying efficacy of prior transplant. Early and effective HSCT may result in a better visual prognosis and reduction in ocular complications for patients with MPSI.

KEYWORDS:

Hurler; corneal opacification; haemopoietic stem cell transplantation; mucopolysaccharidosis

PMID:
29240299
DOI:
10.1111/aos.13627
[Indexed for MEDLINE]
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