Purpose of review: The purpose of this review is to provide an update on ocular manifestations of mucopolysaccharidoses (MPS), to highlight diagnostic pitfalls in the evaluation of affected patients, and to briefly review etiopathogenesis, systemic manifestations, and therapeutic interventions in MPS.
Recent findings: Advances in hematopoietic stem cell transplantation and enzyme replacement therapy for MPS have led to decreased morbidity and increased life-span of patients. Besides other causes, visual impairment because of corneal opacification, retinal degeneration, and optic atrophy remains a common cause of disability in MPS. The application of a standard ophthalmic evaluation protocol may serve as an important diagnostic and disease monitoring tool in patients.
Summary: Diagnostic delays are not uncommon in patients with MPS. Given the early ocular involvement in MPS, ophthalmologists play a crucial role in early detection and follow-up of patients with MPS. Ophthalmic evaluation can be impeded by corneal opacification and patient cooperation. Altered corneal biomechanics confound intraocular pressure measurements. Recently developed therapies have made early detection increasingly important. Accurate diagnosis of specific MPS subtypes is of paramount importance for initiating appropriate therapy. Combined with advances in supportive care of ocular and systemic manifestations, the prognosis for patients with MPS has vastly improved.