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 undergoingenzyme replacement therapy with alpha-l-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. RESULTS:Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratoplasties. In the third patient, deterioration was related to increasing papilloedema. All patients had typical corneal stromal opacities, however, to a variable extent. Two patients had already undergone corneal transplantation before recruitment in the study. Their grafts remained clear throughout follow-up. Of 2 patients with an elevated intraocular pressure, 1 developed intraocular pressure-related optic nerve damage. Vision remained stable in a patient with bilateral optic atrophy. CONCLUSIONS: Ocular findings remain stable in most patients with mucopolysaccharidosis I receiving enzyme replacement therapy. However, enzyme replacement therapy does not seem to prevent progression of corneal or optic disc changes and, thus, the related worsening of visual function.
RCT Entities:
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 optic disc measurements were performed yearly. RESULTS: Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratoplasties. In the third patient, deterioration was related to increasing papilloedema. All patients had typical corneal stromal opacities, however, to a variable extent. Two patients had already undergone corneal transplantation before recruitment in the study. Their grafts remained clear throughout follow-up. Of 2 patients with an elevated intraocular pressure, 1 developed intraocular pressure-related optic nerve damage. Vision remained stable in a patient with bilateral optic atrophy. CONCLUSIONS: Ocular findings remain stable in most patients with mucopolysaccharidosis I receiving enzyme replacement therapy. However, enzyme replacement therapy does not seem to prevent progression of corneal or optic disc changes and, thus, the related worsening of visual function.
Authors: Augusto Magalhães; Ana Maria Cunha; Rodrigo Vilares-Morgado; Elisa Leão-Teles; Esmeralda Rodrigues; Manuel Falcão; Ângela Carneiro; Jorge Breda; Fernando Falcão-Reis Journal: Case Rep Ophthalmol Med Date: 2021-04-12
Authors: Alícia Dorneles Dornelles; Louise Lapagesse de Camargo Pinto; Ana Carolina de Paula; Carlos Eduardo Steiner; Charles Marques Lourenço; Chong Ae Kim; Dafne Dain Gandelman Horovitz; Erlane Marques Ribeiro; Eugênia Ribeiro Valadares; Isabela Goulart; Isabel C Neves de Souza; João Ivanildo da Costa Neri; Luiz Carlos Santana-da-Silva; Luiz Roberto Silva; Márcia Ribeiro; Ruy Pires de Oliveira Sobrinho; Roberto Giugliani; Ida Vanessa Doederlein Schwartz Journal: Genet Mol Biol Date: 2013-02-28 Impact factor: 1.771