Kayser-Fleisher ring is seen in
Correct Answer: Wilson's disease
Description: Ans. a (Wilson's disease). (Ref. Parsons, Disease of Eye, 19th ed., 568).Useful diagnostic tests for wilson diseaseTestUseful-nessNormal valueHeterozygouscarriersWilson diseaseSerumCeruloplasmin+180-350 mg/LLow in 20%Low in 85%Kayser-Fleischer (KF) rings++AbsentAbsentPresent in 99%. + if neurologic or psychiatricPresent in 99%. + if neurologic or psychiatric symptoms present. Present in 30-50% in hepatic presentation and presymptomatic state.24-h urine Cu+++0.3-0.8 nmol (20-50 mg)Normal to 1.3 pmol>1.6 pmol (>10mg) in symptomatic patients. 0.9 to >1.6 pmol (80 mg).(60 to >100 mg) in presymptomatic patients, (obstructive (20-50 mg) tissueLiver Cu++++0.3-0.8 mmol/gNormal to 2.0 pmol>3.1 pmol (200 mg)false-positive results)Haplotype Analysis++++(Siblings only)0 Matcheslmatch2 matches
Category:
Ophthalmology
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