Dr.Sonali Panda

Dr.Aparajita Banerjee, Prof.Sumita Mohapatra, Dr.Manisha Mishra

Abstract

Abstract- Wilson disease is a rare genetic disorder caused due to mutation in ATP7B gene characterized by the abnormal accumulation of copper in various tissues, including the eyes. The excess copper deposition in Descemet`s membrane of cornea leads to the formation of Kayser-Fleischer ring, a hallmark feature in the diagnosis of neurological involvement in Wilson disease. Wilson disease also include sunflower cataracts, which are opacities in the lens due to copper deposition.
This is a case report of a 13 year old male a known case of Wilson disease presented to ophthalmology OPD. Systemic examination revealed dragging of left lower limb, abnormal gait and with impaired cognition. Ocular examination revealed presence of Kayser-Fleischer rings and sunflower cataract in both eyes. The patient was advised with D-penicillamine, pyridoxine, and zin acetate. Prompt recognition of these ocular findings is crucial, as they can serve as early diagnostic clues for Wilson disease.