[Ophthalmic manifestations of Wilson's disease].
OBJECTIVE
To investigate the ophthalmic manifestations of Wilson's disease (WD).


METHODS
In this nonrandomized retrospective case series, fifty-two WD patients were investigated retrospectively, based on the family history, clinical signs and the laboratory test Patients were divided into 4 groups: asymptomatic group, only with hepatic disorders, only with neurological disorders and with both hepatic and neurological disorders group.


RESULTS
Thirty two males and twenty females were studied. The ratio of male to female was 1.6:1.0. The mean age was (20 +/- 1) years, ranged from 4 to 53 years. The majority (78.8%) of patients belonged to younger age groups (10-30 years). The family history showed members with WD in 14 patients (26.9%), probable WD in 3 patients (5.8%). Out of 52 patients, 2 asymptomatic patients (3.8%) were detected by family screening, 12 patients (23.1%) only had hepatic disease, 11 patients (21.2%) only had neurological disorders and 27 patients (51.9%) had both hepatic and neurological disorders. Among 45 patients (86.5%) with Kayser-Fleischer (K-F) ring, 1 patient was asymptomatic, 7 patients had hepatic disease, 11 had neurological disorders and 26 had both hepatic and neurological disorders. One patient (1.9%) was presented with sunflower cataract. Fifty one patients (98.1%) had low serum ceruloplasmin levels and high urinary copper excretion.


CONCLUSIONS
K-F ring is a common and characteristic manifestation of WD. This is often found in patients with neurological disorders.
Huo
Li-Jun
LJ
Department of Ophthalmology, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China. ljhuo68@yahoo.com
Liao
Rui-Duan
RD
Chen
Xue-Mei
XM
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000473:pathology*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult