OBJECTIVE To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. METHODS Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with alpha-l-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and ...

Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac a...

We report on the case of a girl with type 1 Gaucher’s disease, treated from age 9 to 15 with highdose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher’s disease, alternative strategies such as fractionated or further increased ERT, gene th...