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The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler). | LitMetric
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 (R = 0.28 p = 0.043). Better VA was related to a higher iduronidase levels (R = 0.15, p = 0.004) and lower DS/CS ratio (R = 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.
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