Ahmed Javed1, Tariq Aslam1,2, Simon A Jones3, Jean Mercer3, Karen Tyler3, Heather Church3, Arunabha Ghosh3, Robert Wynn4, Krishanthy Sornalingam1, Jane Ashworth1,2. 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.
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.
Authors: Brigitte T A van den Broek; Caroline A Lindemans; Jaap Jan Boelens; Eveline M Delemarre; Julia Drylewicz; Nanda Verhoeven-Duif; Peter M van Hasselt; Stefan Nierkens Journal: Blood Adv Date: 2021-08-24
Authors: N Guffon; M Pettazzoni; N Pangaud; C Garin; G Lina-Granade; C Plault; C Mottolese; R Froissart; A Fouilhoux Journal: Orphanet J Rare Dis Date: 2021-01-31 Impact factor: 4.123