Ophthalmic findings in a Hunter Syndrome patient on Idursulfase enzyme replacement therapy

Hunter Syndrome (mucopolysaccharidosis type II) is a rare x-linked recessive enzymatic deficiency characterized by deposition of glycosaminoglycans (GAGs) in a multitude of organs. In the eye, this deposition can lead to optic nerve edema, uveal effusion, epiretinal membrane, retinal degeneration, and visual field defects. Although enzyme replacement therapy (ERT) with idursulfase has led to improvements in morbidity and mortality, there has yet to be an investigation of the benefits of ERT on ophthalmic disease. The present case highlights the ophthalmic findings in a patient on ERT.