DR. AKARSHITHA B
Dr. RAJANI K., Dr. SUDHIR HEGDE, Dr.Ajay Kudva, Dr. DEVIKA P
Abstract
METHOD: A 26 year old male presented with complaints of abdomen
distention, pedal oedema and jaundice, he was referred from general medicine
department for ophthalmic evaluation. Family history showed similar
complaints. Detailed ophthalmic evaluation was done.
RESULTS: On examination, vision was 6/6 in both eyes. Anterior segment of
both eyes showed greenish yellow ring at the periphery of the cornea which
was also confirmed with gonioscopy. Serum ceruloplasmin levels were raised.
MRI showed normal study. LEPIZ total score was 6 establishing diagnosis of
Wilson’s disease .
CONCLUSION: The identification of Kayser Fleischer ring remains the most
important clinical sign for diagnosis of Wilson’s disease. Wilson’s disease being
autosomal recessive, prenatal testing is indicated in pathological variant .
Diagnosis of the disease and early treatment is very essential to prevent any
catastrophic events and ultimately death.
Leave a Comment