title: Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up.
abstract: OBJECTIVE
  The purpose of the study was to provide longer follow-up of ocular findings in patients with mucopolysaccharidoses (MPS) after bone marrow transplantation (BMT).
  
  
  METHODS
  The study design was a retrospective 6-year cohort evaluation.
  
  
  METHODS
  Twenty-three patients with MPS (19 with MPS type I-H, 3 with MPS type III, 1 with MPS type VI) were studied.
  
  
  METHODS
  Bone marrow transplantation was performed.
  
  
  METHODS
  The following outcome measures were considered: vision, slit-lamp biomicroscopic and funduscopic examinations, intraocular pressure, electroretinography (ERG), and retinoscopy.
  
  
  RESULTS
  Thirteen (81%) of 16 patients showed ERG improvement in the first year. However, all patients showed slowly progressive decline of the ERG over longer follow-up. Other ocular findings included optic atrophy (n = 7 patients), disc edema (n = 6 patients), strabismus (n = 6 patients), nystagmus (n = 6 patients), cataract (n = 3 eyes), keratoconjunctivitis sicca (n = 4 eyes), ocular hypertension (n = 2 eyes), and glaucoma (n = 2 eyes).
  
  
  CONCLUSIONS
  The MPS are rare and heterogeneous disorders characterized by progressive retinal degeneration and blindness. Ocular abnormalities can occur as a result of the disease or as a consequence of BMT. Successful BMT has been shown to improve systemic health, but this may not reflect continuing ocular status and retinal function. Despite early improvement in ERG function, longer follow-up suggests progressive retinal decline.
authors.affiliation: Department of Ophthalmology, University of Minnesota, Minneapolis, USA.
authors.forename: E O
authors.initials: EO
authors.lastname: Gullingsrud
authors.forename: W
authors.initials: W
authors.lastname: Krivit
authors.forename: C G
authors.initials: CG
authors.lastname: Summers
mesh_terms: D016026:Bone Marrow Transplantation / Q000009:adverse effects*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004596:Electroretinography; D005128:Eye Diseases / Q000209:etiology* / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007429:Intraocular Pressure; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000601:surgery; D009084:Mucopolysaccharidosis III / Q000150:complications* / Q000601:surgery; D009087:Mucopolysaccharidosis VI / Q000150:complications* / Q000601:surgery; D012189:Retrospective Studies