Ocular manifestations of Wilson's disease in Iran

Abstract

Within the last 5 years, 25 proved cases of hepato-lenticular degeneration (Wilson's disease) have been seen at the Children's Hospital Medical Center affiliated to Tehran University. The disease manifested abnormal copper metabolism in the following respects: (1) Hypoceruloplasminaemia was present: (2) 24-hr urinary copper excretion was low; (3) Tissue concentration of copper was high; (4) Treatment with penicillamine led to increased copper excretion in the urine and usually to relief of symptoms. The ophthalmologist cannot always assist the paediatrician in diagnosis, but fourteen of the 25 patients showed a Kayser-Fleischer ring and these were all in the older age groups. The following conclusions were drawn: (1) The incidence of Wilson's disease in Iran is high; (2) Penicillamine treatment may be successful; (3) Any young person with kidney, liver, or neurological disease of uncertain aetiology should have a detailed ophthalmological examination.