Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 22-year-old man with Wilson's disease had blurred vision caused by a defect of accommodation that we believed to be supranuclear in origin.
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PMID:Accommodation defect in Wilson's disease. 739 55

Eleven patients (4 males, 7 females) with Wilson's disease who presented before 18 years of age are described. The mean age onset of symptoms was 11.2 +/- 3.9 (SD) years. The mean age at diagnosis was 13.3 +/- 3.4 (SD) years. All patients had hepatic manifestations of the disease when diagnosed: cirrhosis (6 patients), chronic hepatitis (2) and fulminant hepatic failure (3). Three patients were asymptomatic at diagnosis. Two of the symptomatic patients presented with new undescribed manifestations: one with blurred vision and the other with acalculous cholecystitis. At diagnosis, 6 patients had Kayser Fleischer rings and 5 had hemolytic anemia. The three patients with fulminant hepatic failure had hemolysis with relatively low serum aminotransferase and alkaline phosphatase levels, possibly helpful findings for rapid diagnosis of Wilson's disease in such presentation. Ten patients were treated with penicillamine. Liver transplantation was performed in 4 patients, 2 of which presented with fulminant hepatic failure. One patient died while waiting for liver transplantation, the remainder of the patients live free of symptoms. It is important to be aware of the different manifestations of Wilson's disease in the pediatric population, in order to make appropriate evaluations in a timely manner to facilitate early diagnosis and appropriate treatment.
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PMID:Pediatric Wilson's disease: presentation and management. 915 61