Kayser-Fleischer ring at the rim of cornea in a patient with Wilson disease
Wilson disease is an autosomal recessive disorder that is characterized by excessive deposition of copper in the liver and brain. The genetic defect, localized to chromosome 13, has been shown to affect a copper transporting adenosine triphosphatase (ATP7B) and leads to copper accumulation. Wilson disease tends to present as liver disease in adolescents and neuropsychiatric disease in young adults. The pathognomic sign of the condition is the brownish or gray-green Kayser-Fleischer ring, which represents fine pigmented granular deposits in Descemet's membrane in the cornea. The ring is usually most marked at the superior and inferior poles of the cornea. It is sometimes seen with the naked eye and is readily detected by slit lamp examination. It may be absent in patients with hepatic manifestations only but is usually present in those with neuropsychiatric disease.
