Wilson's disease: A rare autosomal recessive disorder of copper metabolism
Keywords:ATP7B gene, Ceruloplasmin, Kayser-Fleischer ring, Wilson’s Disease
Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver, the brain and the eye. Because effective treatment is available, it is important to make this diagnosis early. We report a patient who developed features of neurological and ocular manifestations: incoordination and tremor and blurring of vision with presence of Kayser-Fleischer ring circling the cornea but no signs of hepatic dysfunction.
Journal of Chitwan Medical College 2014; 4(2): 51-54