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Wilson disease
See also in: External and Internal Eye
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Wilson disease

See also in: External and Internal Eye
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Contributors: Brandon D. Ayres MD, Christopher Rapuano MD, Sunir J. Garg MD, Lauren Patty Daskivich MD, MSHS
Other Resources UpToDate PubMed

Synopsis

Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly the brain, liver, kidneys, and corneas. The patient often presents in the first or second decade of life. Without treatment, Wilson disease will lead to liver failure, central nervous system (CNS) disorders (neurologic and psychotic), and eventually death. The majority of patients will present with either CNS (movement or speech) disorders or hepatic deficiency (ascites, anemia, etc). Corneal deposits are known as Kayser-Fleischer rings. The ring tends to begin in the superior cornea and slowly extends to become confluent inferiorly. The ring can be green to gold-brown in color. With proper treatment and management, the ring will slowly dissolve.

For more information, see OMIM.

Codes

ICD10CM:
E83.01 – Wilson's disease

SNOMEDCT:
88518009 – Wilson's Disease

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

General Medicine
Ocular
Many hepatic disorders can be associated with a Kayser-Fleischer ring but will not have neurologic findings. These include the following:
Other diagnoses with a copper ring in the cornea:
Process with a similar looking ring:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 02/06/2017
Last Updated: 03/29/2017
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Wilson disease
See also in: External and Internal Eye
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Wilson disease : Hepatomegaly, Jaundice, Asterixis, Ataxia, Serum copper increased, Dysarthria, LFTs elevated, Liver failure, Splenomegaly, Asymmetrical tremor
Clinical image of Wilson disease
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