Dr.Santhi Kiran Setti

Dr.SANTHI KIRAN , Dr. RAJULAPATI ABEESHA, Dr.Jyothirmai Tammana

Abstract

Introduction : Wilson's disease is an inherited as autosomal recessive disorder , of copper balance leading to hepatic damage, neurological and ophthalmological disturbances. The defective gene, ATP7B, encodes a hepatic copper transporting protein, which play a key role in human copper metabolism. The presence of Kayer Fleischer ring suggests copper overload in the body which deposits in the descemet 's membrane of the cornea. 23yrs old male patient presented with tremors, slurred speech for 3 months duration. Visual acuity RE : 6/9 and LE : 6/9. Anterior segment examination showed both eyes Kayer Fleischer ring.. Fundus examination of both eyes showed normal fundus findings. Serum ceruloplasmin value is 8mg /dl and MRI brain showed normal features.