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Case Reports

Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema

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Pages 394-396 | Received 29 Jun 2018, Accepted 04 Sep 2018, Published online: 05 Oct 2018
 

ABSTRACT

Mucopolysaccharidosis type I (MPS I or Hurler syndrome) is a multisystem genetic disorder caused by α-L-iduronidase (IDUA) deficiency, which leads to widespread accumulation of glycosaminoglycans triggering tissue damage and organ dysfunction. A variety of ocular manifestations have been described in Hurler Syndrome. We present the case of an 11-year-old boy with Hurler Syndrome and optic disc edema related to ocular glycosaminoglycan deposition. This report advances the idea that the optic nerve swelling seen in MPS I is likely influenced as much by biomechanical changes at the optic nerve head as by increased intracranial pressure.

Declaration of interest

The authors report no conflict of interest. The authors alone are responsible for the content and writing of the article.

Additional information

Funding

None.

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