Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience.
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.
Pitz
Susanne
S
Department of Ophthalmology, Johannes Gutenberg University, Langenbeckstrasse 1, D 55101 Mainz, Germany. pitz@augen.klinik.uni-mainz.de
Ogun
Olufunmilola
O
Bajbouj
Manal
M
Arash
Laila
L
Schulze-Frenking
Gudrun
G
Beck
Michael
M
D000293:Adolescent; D000328:Adult; D002648:Child; D003316:Corneal Diseases / Q000188:drug therapy* / Q000503:physiopathology; D018450:Disease Progression; D004311:Double-Blind Method; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D007262:Infusions, Intravenous; D007429:Intraocular Pressure / Q000187:drug effects; D008297:Male; D008059:Mucopolysaccharidosis I / Q000188:drug therapy* / Q000503:physiopathology; D009887:Ophthalmoscopy; D009898:Optic Disk / Q000187:drug effects; D009901:Optic Nerve Diseases / Q000188:drug therapy* / Q000503:physiopathology; D011994:Recombinant Proteins / Q000627:therapeutic use; D014792:Visual Acuity / Q000187:drug effects
D011994:Recombinant Proteins; D007068:Iduronidase