Open AccessOcular manifestations as the initial presentations of Wilson disease
Author(s) -
Jinn-Liang Lin,
Ming-Shan He,
RongKung Tsai
Publication year - 2013
Publication title -
taiwan journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.519
H-Index - 9
eISSN - 2211-5072
pISSN - 2211-5056
DOI - 10.1016/j.tjo.2013.03.005
Subject(s) - medicine , wilson's disease , ceruloplasmin , cataracts , disease , magnetic resonance imaging , ophthalmology , dermatology , surgery , radiology , pathology
A 19-year-old woman presented with Kayser-Fleischer ring in her corneas and sunflower cataracts in both eyes. There were no coexisting neurologic or hepatic symptoms, both brain magnetic resonance imaging (MRI) and abdominal echo showed minimal changes. Serum copper concentration (Cu) and ceruloplasmin were abnormal, and 24-hour urine collection showed abnormally high levels of copper (348.0 μg/day). A diagnosis of Wilson disease was made. We report the interesting case of rare manifestations of Wilson disease; initially with ocular presentations without neurologic symptoms. Early detection and treatment of Wilson disease is possible in patients with only ocular manifestations, and can prevent a catastrophic sequel