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Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis
  1. Stefano Ferrari1,
  2. Diego Ponzin1,
  3. Jane L Ashworth2,
  4. Kristina Teär Fahnehjelm3,4,
  5. C Gail Summers5,
  6. Paul R Harmatz6,
  7. Maurizio Scarpa7
  1. 1The Veneto Eye Bank Foundation, Venice, Italy
  2. 2Manchester Royal Eye Hospital, Manchester, UK
  3. 3Department of Clinical Neuroscience, Karolinska Institutet, Huddinge, Sweden
  4. 4Department of Paediatric Ophthalmology and Strabismus, St Erik Eye Hospital, Karolinska University Hospital, Huddinge, Sweden
  5. 5Departments of Ophthalmology and Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA
  6. 6Children's Hospital & Research Center Oakland, Oakland, California, USA
  7. 7Department of Paediatrics, University of Padua, Padua, Italy
  1. Correspondence to Dr Maurizio Scarpa, Department of Paediatrics, University of Padua, Via Giustiniani 3, 35128 Padua, Italy; scarpa{at}


Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. Despite genetic and phenotypic heterogeneity within and between different types of MPS, the disease symptoms and clinical signs often manifest during the first 6 months of life with increasing head size, recurrent infections, umbilical hernia, growth retardation and skeletal problems. Typical ocular features include corneal clouding, ocular hypertension/glaucoma, retinal degeneration and optic nerve atrophy. Visual deterioration and sensitivity to light may substantially reduce the quality of life in MPS patients, particularly when left untreated. As an early intervention, haematopoietic stem cell transplantation and/or enzyme replacement therapy are likely to improve patients' symptoms and survival, as well as visual outcome. Thus, it is of utmost importance to ensure proper detection and accurate diagnosis of MPS at an early age. It is of fundamental value to increase awareness and knowledge among ophthalmologists of the ocular problems affecting MPS patients and to highlight potential diagnostic pitfalls and difficulties in patient care. This review provides insight into the prevalence and severity of ocular features in patients with MPS and gives guidance for early diagnosis and follow-up of MPS patients. MPS poses therapeutic challenges in ocular management, which places ophthalmologists next to paediatricians at the forefront of interventions to prevent long-term sequelae of this rare but serious disease.

  • Diagnosis
  • eye diseases
  • glycosaminoglycans
  • mucopolysaccharidoses
  • treatment
  • pathology
  • imaging
  • diagnostic tests/investigation
  • treatment medical
  • child health (paediatrics)

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  • Funding BioMarin Europe Ltd, London, UK.

  • Competing interests SF, DP, JLA and CGS have no competing interests to declare. KTF has received travel expenses from BioMarin. PRH has provided consulting support to BioMarin Pharmaceutical Inc., Novato, California, USA, and has received research grants, speaker's honorarium and travel support from BioMarin. MS has received unrestricted research and travel grants from BioMarin, Actelion, Genzyme and Shire.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.