Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis

Kristina T. Fahnehjelm, Jane L. Ashworth, Susanne Pitz, Monica Olsson, Alba Lucia Törnquist, Päivi Lindahl, C. Gail Summers

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in children with severe corneal clouding, hampering visualization of the fundus. Intraocular pressures may be falsely high, even leading to suspicion and unnecessary pressure-lowering treatment. Simple interventions such as the use of prescription glasses or photochromatic glasses can considerably improve quality of life in children with MPS.

Original languageEnglish (US)
Pages (from-to)595-602
Number of pages8
JournalActa Ophthalmologica
Issue number7
StatePublished - Nov 2012


  • diagnosis
  • eye manifestations
  • guidelines
  • mucopolysaccharidoses
  • treatment


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