Ocular manifestations as key features for diagnosing mucopolysaccharidoses

C. Gail Summers, Jane L. Ashworth

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset and severity. Many patients with MPS remain undiagnosed for years and progressively develop irreversible pathologies, which ultimately lead to premature death. To foster timely treatment and ensure a better outcome, it is of utmost importance to recognize and evaluate the typical ocular features that present fairly early in the course of the disease in many children with MPS. These include corneal clouding, ocular hypertension/glaucoma, retinal degeneration, optic disc swelling and optic nerve atrophy. Other associations include pseudo-exophthalmos, amblyopia, strabismus and large refractive errors requiring spectacle correction. While some ocular manifestations require specialized equipment for detecting abnormalities, light sensitivity, pseudoexophthalmos and strabismus are often apparent on a routine physical examination. In addition, patients may be symptomatic from vision impairment, photosensitivity, night blindness and visual field constriction. Combined with the skeletal/joint complications and other manifestations, these ocular features are key in the differential diagnosis of children with joint abnormalities. Rheumatologists should have a high index of suspicion for MPS to facilitate early diagnosis. Referral to a geneticist, a metabolic specialist or physician who specializes in MPS can confirm the diagnosis and provide disease management. Consultation with an ophthalmologist who has expertise in MPS is also needed for thorough examination of the eyes and regular follow-up care.

Original languageEnglish (US)
Article numberker392
Pages (from-to)v34-v40
Issue numberSUPPL. 5
StatePublished - Dec 2011

Bibliographical note

Funding Information:
The authors are grateful to Ismar Healthcare NV for their writing assistance, which was funded by BioMarin US, Inc. and to Lisa Underhill (Genzyme Corporation, Global Medical Affairs) for assisting with manuscript revisions. C.G.S. acknowledges unrestricted departmental support from Research to Prevent Blindness, Inc., New York, NY. J.L.A. acknowledges the support of the National Institute for Health Research Manchester Biomedical Research Centre. The opinions and conclusions set forth herein are those of the authors and do not necessarily represent the views of Genzyme, BioMarin or Shire.

Funding Information:
Supplement: This paper forms part of the supplement entitled ‘Rheumatologic Aspects of the Mucopolysaccharidoses’. This supplement was supported by joint educational funding from Genzyme, BioMarin Pharmaceutical and Shire Human Genetic Therapies.


  • Corneal clouding
  • Diagnosis
  • Eye diseases
  • Glycosaminoglycans
  • Mucopolysaccharidoses
  • Optic disc swelling
  • Photophobia
  • Pseudo-exophthalmos
  • Retinal degeneration
  • Rheumatology


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