Eyes and Ears

Individuals with MPS VI and other MPS disorders commonly develop corneal opacities leading to corneal clouding, which can eventually diminish visual acuity. Glaucoma has also been reported. Vision impairment and blindness may also result from retinal disease, optic atrophy, or optic nerve atrophy, which themselves are caused by optic canal stenosis.^1,2

Excess secretion of mucus and poor mucociliary clearance in MPS VI patients increases the risk of bacterial otitis media secondary to viral respiratory infections. Recurrent otitis media is a common symptom in MPS VI patients. Moreover, recurrent otitis media may exacerbate hearing loss.^3-5

Hearing loss is also common and caused by several factors, including frequent otitis media, deformed ossicles, and a deformed middle ear.¹

Corneal Clouding. Progressive Ocular GAG accumulation reduces visual acuity.

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw-Hill; 2001:3421-3452.
2. Vougioukas VI, Berlis A, Kopp MV, et al. Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg. 2001;35:35-38. Review.
3. Bredenkamp J, Smith ME, Dudley JP, et al. Otolaryngologic manifestations of the mucopolysaccharidoses. Arch Otol Rhinol Laryngol. 1992;101:472-478.
4. Kakkis ED, Neufeld EF. The mucopolysaccharidoses. In: Berg BO, ed. Principles of Child Neurology. New York, NY: McGraw-Hill; 1996:1141-1165.
5. Whitley CB. The mucopolysaccharidoses. In: Beighton P, ed. McKusick's Heritable Disorders of Connective Tissue. 5th ed. St Louis, Mo: Mosby; 1993:367-499.