The
mucopolysaccharidoses (MPSs) are a group of disorders caused by inherited defects in lysosomal
enzymes resulting in widespread intra- and extra-cellular accumulation of
glycosaminoglycans. They have been subdivided according to
enzyme defect and systemic manifestations and include MPS IH (Hurler), MPS IS (Scheie), MPS IH/S (Hurler/Sheie), MPS II (Hunter), MPS III (Sanfilippo), MPS IV (Morquio), MPS VI (Maroteaux-Lamy), MPS VII (Sly) and MPS IX (Natowicz). The
mucopolysaccharidoses have a spectrum of systemic manifestations, including airway and respiratory compromise, skeletal
deformities, intellectual and neurological impairment, cardiac abnormalities, and gastrointestinal problems. Ocular manifestations are common in the
mucopolysaccharidoses and may result in significant
visual impairment. Corneal opacification of varying severity is frequently seen, as well as retinopathy, optic nerve swelling and
atrophy,
ocular hypertension, and
glaucoma. New treatment modalities for the systemic manifestations of the
mucopolysaccharidoses include bone marrow transplant and
enzyme replacement therapy, and have resulted in an improved prognosis in many cases. This article reviews the systemic and ocular manifestations of the
mucopolysaccharidoses, as well as new treatment options, and discusses the ophthalmic management of
mucopolysaccharidosis patients.