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

Kristina T Fahnehjelm1, Jane L Ashworth, Susanne Pitz

  • 1Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. kristina.tear-fahnehjelm@sankterik.se

Acta Ophthalmologica
|December 6, 2011
PubMed

Insights

Mucopolysaccharidoses (MPS) cause vision problems in children, affecting various eye structures. Early diagnosis and management by ophthalmologists are crucial for improving quality of life.

Area of Science:

  • Ophthalmology
  • Genetics
  • Metabolic Disorders

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic lysosomal storage disorders.
  • Characterized by glycosaminoglycan accumulation, leading to multisystemic clinical manifestations.
  • Severe cases can result in premature death.

Purpose of the Study:

  • To provide an overview of ocular problems in MPS.
  • To establish clinical guidelines for pediatric ophthalmologists.
  • To facilitate early diagnosis and management of ocular manifestations in children with MPS.

Main Methods:

  • Literature review on ocular manifestations in MPS.
  • Analysis of diagnostic challenges in MPS patients.
  • Review of management strategies for ocular complications.

Main Results:

  • Ocular problems are highly prevalent in children with MPS, affecting the cornea, retina, optic nerve, and visual pathways.
  • Diagnostic difficulties include corneal clouding hindering fundus visualization and falsely elevated intraocular pressures.
  • Simple interventions like prescription or photochromatic glasses can significantly enhance quality of life.

Conclusions:

  • Ocular manifestations are a significant concern in pediatric MPS.
  • Standardized diagnostic and management guidelines are needed for pediatric ophthalmologists.
  • Timely intervention can mitigate visual impairment and improve patient outcomes.

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