title: Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up.
abstract: OBJECTIVE
  To report a case of type I Gaucher's disease with rare presentation of fundus abnormalities in long-term observation.
  
  
  METHODS
  Observational case report.
  
  
  METHODS
  This 53-year-old Taiwanese woman suffered from type I Gaucher's disease for 12 years, with initial presentation of hepatoslpenomegaly in 1992.
  
  
  RESULTS
  At that time, poor vision with unusual macular change and peripheral retinal vessel leakage was also noted. She received a complete ophthalmic examination at the initial visit and again 12 years later in 2003. She was treated with imiglucerase injection during the last 4 years. However, her visual acuity was 10/200 in both eyes. The macular and peripheral retinal degenerative change progressed after 12 years.
  
  
  CONCLUSIONS
  Fundus changes associated with Gaucher's disease are uncommon. We should not neglect the possibility of retinal involvement and progression in these patients.
authors.affiliation: Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Tsung-Jen
authors.initials: TJ
authors.lastname: Wang
authors.forename: Muh-Shy
authors.initials: MS
authors.lastname: Chen
authors.forename: Yung-Feng
authors.initials: YF
authors.lastname: Shih
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Ming-Yang
authors.initials: MY
authors.lastname: Lai
mesh_terms: D002199:Capillary Permeability; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D008875:Middle Aged; D011994:Recombinant Proteins / Q000627:therapeutic use; D012164:Retinal Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D012171:Retinal Vessels / Q000473:pathology
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase