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

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


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.

MeSH terms

  • Child, Preschool
  • Eye Diseases / diagnosis
  • Eye Diseases / etiology
  • Eye Diseases / therapy*
  • Female
  • Follow-Up Studies
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Infant
  • Male
  • Mucopolysaccharidosis I / complications
  • Mucopolysaccharidosis I / diagnosis
  • Mucopolysaccharidosis I / therapy*
  • Phenotype
  • Retrospective Studies
  • Treatment Outcome
  • Visual Acuity*