Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up.
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.
Wang
Tsung-Jen
TJ
Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Chen
Muh-Shy
MS
Shih
Yung-Feng
YF
Hwu
Wuh-Liang
WL
Lai
Ming-Yang
MY
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
D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase