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Ocular symptoms are often among the first signs of MPS VI3

Ocular features to look for*

The first symptoms prompting an ophthalmologist visit may include:

 
Corneal Clouding mucopolysaccharidosis VI     

Corneal clouding

Corneal opacities can develop in many types of MPS disorders and may progress to gross corneal clouding.2
 
 
Glaucoma mucopolysaccharidosis VI     

Glaucoma

Glaucoma may be more common in MPS disorders than previously believed. Studies show increased ocular pressure and other features of glaucoma in MPS VI patients.2
 
 
Optic nerve swelling and atrophy     

Optic nerve swelling and atrophy

Optic nerve abnormalities – including optic nerve oedema associated with increased intracranial pressure and bilateral atrophy – have been observed in MPS patients.2
 
 
Retinal mucopolysaccharidosis VI     

Retinal degeneration

MPS are a heterogeneous set of disorders characterized by progressive retinal degeneration. Corrective lenses and magnifying aids are often required although some patients may completely lose their eyesight.
 

On their own, ocular symptoms may not immediately suggest the presence of MPS VI; however, when they occur in conjunction with other common features, MPS VI should be suspected.

*Reference is for MPS I. MPS I and MPS VI present with similar symptoms.

 Next: Specialty Information: Radiology

References

  1. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-418.
  2. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144(5 Suppl):S3–S14.