Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema

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.

KEYWORDS:

• Mucopolysaccharidosis type I
• optic disc edema
• Bruch’s membrane
• 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.