Wilson's disease in children with blindness: an atypical presentation

Wilson's disease (WD) is an autosomal recessive disease affecting copper metabolism causing copper induced organ damage. Common organs involved are liver and central nervous system. But RBC, eye, kidneys and bone may also be affected. In WD main defect remains in copper transporter protein p type ATPase resulting from gene mutation in chromosome 13. Neurological manifestations in WD develop due to deposition of copper in different brain areas like basal ganglia, cerebral cortex, corticospinal and corticobulbar pathway. Different types of neurological manifestations develop in WD but visual impairment is very rare. A 14 years old boy of WD presented to us with blindness, tremor and slurred speech along with end stage liver disease. Blindness was thought to be due to optic neuropathy which reversed after drug treatment.