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Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema
Sean M Gratton1, Thanuja Neerukonda2
1Departments of Neurology and Ophthalmology, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
Neuro-Ophthalmology (Aeolus Press)
|March 14, 2020
Summary
Mucopolysaccharidosis type I (Hurler syndrome) causes glycosaminoglycan buildup, leading to eye problems like optic disc edema. This swelling may result from biomechanical changes in the optic nerve head, not just intracranial pressure.
Area of Science:
- Ophthalmology
- Genetics
- Biochemistry
Background:
- Mucopolysaccharidosis type I (MPS I), or Hurler syndrome, is a genetic disorder resulting from alpha-L-iduronidase (IDUA) deficiency.
- This deficiency causes widespread accumulation of glycosaminoglycans (GAGs), leading to multi-systemic tissue damage and organ dysfunction.
- Ocular manifestations are common in Hurler syndrome.
Observation:
- A case study of an 11-year-old boy with Hurler syndrome presented with optic disc edema.
- The optic disc edema was attributed to ocular glycosaminoglycan deposition.
- This finding highlights a specific ocular complication in MPS I.
Findings:
- The study observed optic disc edema in a patient with Hurler syndrome.
- Glycosaminoglycan deposition in ocular tissues was identified as the cause.
- This suggests a direct link between GAG accumulation and optic nerve head pathology in MPS I.
Implications:
- The optic nerve swelling in MPS I may be significantly influenced by biomechanical alterations at the optic nerve head.
- These biomechanical changes could be as critical as increased intracranial pressure in causing optic nerve head swelling.
- This understanding may refine diagnostic and management strategies for ocular complications in Hurler syndrome.
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