The Eyes Have It: Diagnosing Wilson Disease

Famous poetic thought suggests that “the eyes are the window to the soul.” Doctors studying Wilson disease, however, may see the eyes as the window to a diagnosis. According to a story by Florida Today, the eyes are an important factor even when monitoring a disease which primarily affects other organs. Keep reading to learn more, or follow the original story here.

What is Wilson Disease?

Wilson disease is a genetic disease inherited at birth. It affects the body’s ability to process copper. While some degree of copper is essential for a healthy individual, those with Wilson disease accumulate the metal in dangerous quantities. The copper often builds up in the brain, and liver. Unless it is diagnosed early, Wilson disease could lead to severe organ damage. The illness is ultimately fatal.

Wilson disease often shows symptoms between the ages of six and 45. It is most commonly observed during teenage years. Trademark symptoms of the disease include fluid buildup in extremities, jaundice, and abdominal swelling. Other symptoms include difficulty walking, difficulty swallowing, low white blood cell count, and easy bruising.

If Wilson disease affects the brain or liver, there may also be occurrences of psychiatric symptoms or hepatitis, respectively. Click here to learn more about Wilson disease.

Diagnosing Wilson Disease

The standard diagnosis process for Wilson disease includes a bundles of tests. Liver function, coagulation, copper levels in both serum and urine, brain imaging, and a copper-carrying blood protein called ceruloplasmin are all tested.

Some estimates suggest that as many as half of all Wilson disease patients live with psychological or neurological symptoms as well. These require entirely different batteries of tests in addition to those listed above.

Eye Spy

While symptoms affecting the eyes are relatively uncommon in cases of Wilson disease, patients may have a tell-tale sign of the condition nonetheless. Known as a Kayser-Fleisher ring, this brown, green, or red pigment in the eye may suggest Wilson disease.

The Kayser-Fleisher ring is representative of copper deposits in the body. It is typically visible in the periphery of the cornea which lies in front of the pupil. In some cases, patients have even developed cataracts as a result of copper deposits in the eye.

Early on, the Kayser-Fleisher ring may not form a complete halo. Opthamologists may examine the drainage system of the eye to see if patients are beginning to develop the copper toned ring.

Monitoring the Kayser-Fleisher Ring can also give doctors an indicator about how effective treatments are. If treatments are successful, and the body begins processing its surplus copper, the ring will vanish from the eye. Should the ring return, it is likely that a treatment is ineffective. For this reason, experts suggest patients with Wilson disease be monitored not only by their primary physician but also eye specialists.


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