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Related Experiment Videos

Dense peripheral corneal clouding in Scheie syndrome

C G Summers1, C B Whitley, E J Holland

  • 1Department of Ophthalmology, University of Minnesota, Minneapolis.

Cornea
|May 1, 1994
PubMed
Summary

Scheie syndrome (MPS I-S) can present with unusual peripheral corneal clouding, preserving central vision. Diagnosis was confirmed by systemic features, electroretinogram, and absent alpha-L-iduronidase activity.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Metabolic Disorders

Background:

  • Scheie syndrome, a subtype of mucopolysaccharidosis type I (MPS I-S), is a rare genetic disorder.
  • Corneal clouding is a common feature in MPS disorders, but the pattern can vary.
  • Maintaining good central visual acuity despite peripheral corneal opacity is atypical.