The characteristic eye finding in Wilson disease is the Kayser-Fleischer ring, a rusty brown ring around the cornea.
Understanding Kayser-Fleischer Rings
The Kayser-Fleischer (KF) ring is a key diagnostic marker of Wilson disease, a rare inherited disorder that causes copper to accumulate in the body, particularly in the liver, brain, and corneas of the eyes. This copper deposition in the Descemet's membrane of the cornea leads to the visible ring.
Characteristics of Kayser-Fleischer Rings:
- Appearance: The rings are typically described as rusty brown, golden brown, or greenish-brown in color.
- Location: They appear at the periphery of the cornea, the clear front part of the eye.
- Visibility: While sometimes visible to the naked eye, they are best observed during a slit-lamp examination by an ophthalmologist.
- Composition: The rings are composed of copper deposits.
- Significance: Their presence strongly suggests Wilson disease, especially in individuals presenting with liver or neurological symptoms.
Diagnosis and Evaluation
A slit-lamp examination is essential for detecting Kayser-Fleischer rings. Neurological and liver function tests will likely be conducted in conjunction with the eye examination. Further investigation may involve blood and urine tests to measure copper levels, and sometimes a liver biopsy.
Treatment
Treatment for Wilson disease aims to reduce copper levels in the body. Options include:
- Chelating agents: Medications like penicillamine and trientine bind to copper and promote its excretion in the urine.
- Zinc acetate: This medication blocks the absorption of copper from the diet.
- Liver transplantation: In severe cases of liver failure due to Wilson disease, a liver transplant may be necessary.
Treatment can often reduce or eliminate the Kayser-Fleischer rings, although this may take time.
