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Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation.

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  • المؤلفون: Fahnehjelm KT;Fahnehjelm KT; Törnquist AL; Malm G; Winiarski J
  • المصدر:
    Acta ophthalmologica Scandinavica [Acta Ophthalmol Scand] 2006 Dec; Vol. 84 (6), pp. 781-5.
  • نوع النشر :
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • اللغة:
    English
  • معلومة اضافية
    • المصدر:
      Publisher: Blackwell Country of Publication: Denmark NLM ID: 9507578 Publication Model: Print Cited Medium: Print ISSN: 1395-3907 (Print) Linking ISSN: 13953907 NLM ISO Abbreviation: Acta Ophthalmol Scand Subsets: MEDLINE
    • بيانات النشر:
      Publication: Oxford : Blackwell
      Original Publication: Hvidovre, Denmark : Scriptor, c1995-
    • الموضوع:
      Hematopoietic Stem Cell Transplantation*; Corneal Diseases/*diagnosis ; Mucopolysaccharidosis I/*therapy ; Refractive Errors/*diagnosis; Child ; Child, Preschool ; Corneal Diseases/physiopathology ; Evoked Potentials, Visual ; Female ; Humans ; Intraocular Pressure ; Male ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis I/physiopathology ; Refractive Errors/physiopathology ; Visual Acuity
    • نبذة مختصرة :
      Purpose: To present visual functions and ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with stem cell transplantation (SCT).
      Methods: Clinical ophthalmological evaluations including visual evoked potentials (VEPs) were carried out.
      Results: Stem cell transplantation was performed before 20 months of age. Ocular follow-up lasted 1.3-5.6 years (median 4.1 years). Reductions in corneal opacities were observed in all four children post-SCT, but a slight cloudiness persisted. Decreased visual acuity and high hyperopia (median + 6.25 dioptres, range + 4.0 D to + 7.5 D spherical equivalents) were noted in all children. Hyperopia was initially undetected due to dull retinal reflexes and photophobia. Two children developed esotropia, one with amblyopia. Keratometry, performed in two children, demonstrated subnormal values with a mean of 39.33 D (range 37.62-41.00 D). Visual evoked potentials and intraocular pressures were normal. Neither cataract nor dry eye were detected during follow-up.
      Conclusions: Early SCT appears to be beneficial in reducing, but not eliminating, corneal opacities in children with MPS I-H. Subjects are at risk of developing high hyperopia and esotropia. Hyperopia might be caused by the storage of glucosaminoglucans that increase corneal rigidity, thereby straightening the curvature of the cornea and reducing refractive power. As early diagnosis and treatment are very important, paediatric ophthalmologists should remember to rule out MPS I-H in children with corneal opacities.
    • الموضوع:
      Date Created: 20061107 Date Completed: 20070123 Latest Revision: 20080317
    • الموضوع:
      20240628
    • الرقم المعرف:
      10.1111/j.1600-0420.2006.00743.x
    • الرقم المعرف:
      17083538