What is Wilson disease?
Wilson disease, also known as Wilson's disease, is a genetic condition that makes it hard for your body to remove extra copper. Since you only need a little copper to survive, having too much can damage your organs and become very dangerous.
Most extra copper builds up in the liver, brain and eyes, but it can affect other parts of the body too. Early diagnosis and lifelong management help prevent damage so you can stay healthy.
Wilson disease and the eyes are closely connected. Kayser-Fleischer rings (KF rings) are a common sign of the condition. They can look like a brown-yellow ring around the colored part of your eye (the iris).
Wilson disease affects around one in every 30,000 people. It's present from birth but can take a while to become noticeable. Symptoms often start sometime between the ages of 5 and 35.
Wilson disease eye signs and symptoms
Wilson disease can affect your eyes directly when copper builds up in the eyes. This can result in:
- Keyser-Fleischer rings – Copper deposits in the cornea that seem to encircle the iris
- Sunflower cataracts – Copper deposits in the eye’s natural lens that cause a flower-shaped cloudiness
While these may affect your eyes’ appearance, they typically don't impact vision.
Eye changes can also occur when the disease affects other parts of your body. Changes may include:
- Yellow eyes – Liver problems may cause jaundice, which can make your skin and eyes appear yellow.
- Problems with eye movement – If the brain is involved, it may cause eye mobility issues, especially when looking upward. This may be assessed using eye tracking technology.
With treatment, it may be possible to reduce or even reverse these eye-related effects.
Other Wilson disease symptoms
High copper levels can cause many other symptoms in your body. They occur when your liver, brain or other organs aren't working like they should.
People with Wilson disease may experience symptoms related to their:
- Liver, including fatigue, nausea, pain in the upper part of the belly, dark-colored urine, fluid buildup in the legs or belly area, and jaundice
- Brain, such as difficulty swallowing, slurred speech, clumsiness, muscle stiffness, uncontrollable movements and shaking (tremors)
- Mental health, including depression, anxiety, mood changes and problems thinking clearly
It can also cause symptoms related to the:
- Joints
- Bones
- Heart
- Kidneys
- Menstrual cycle and fertility
Wilson disease can affect many parts of your body and cause many different symptoms. Talk to your doctor if you have any concerns about your health.
READ MORE: How liver failure can affect your eyes
Kayser-Fleischer rings
Kayser-Fleischer rings (KF rings) are deposits of extra copper that show up along the edge of the cornea (the clear dome that covers the iris). It can look like the ring is on the iris itself, but it's actually right above it.
KF rings usually develop in both eyes. The rings often look golden brown or "rusty." Some include shades of green or other colors. The discoloration can also spread to other parts of the eye, but they should not affect your vision.
How common are they?
Kayser-Fleischer eye rings are common in people with Wilson disease. In rare cases, they can also be caused by other liver problems.
Among those with Wilson disease, KF rings are found in:
- Around 95% of people who have symptoms related to their nervous system (including the brain)
- Half of people who don't have nervous system symptoms
- Up to 40% of people who have no other symptoms
- Two-thirds of children with the disease
READ MORE: What else can cause corneal deposits?
Diagnosis
Kayser-Fleischer rings and sunflower cataracts may not be outwardly noticeable in the early stages of the disease. This is especially the case if a person has dark-colored eyes.
However, an eye doctor may be able to see signs of their development before copper buildup becomes too advanced.
During a comprehensive eye exam, your doctor uses special instruments to look at the cornea, lens and other parts of your eyes in great detail. They may perform common eye tests, including a slit lamp test and gonioscopy.
If your eye doctor finds ocular signs of Wilson disease, they will likely refer you to your primary care physician to check for signs and symptoms in other organs. Your primary doctor may use one or more of the following tests to assess your liver function and check for copper buildup:
- Blood tests
- 24-hour urine collection
- MRI, CT scan or other imaging tests of your brain
- Liver tissue analysis
Your doctor might also suggest a genetic test to check for abnormalities in the ATP7B gene, which has been linked to Wilson disease.
When to see a doctor
Diagnosing and treating Wilson disease early can protect your organs and keep you healthy. Talk to your primary doctor or specialist as soon as you notice symptoms.
Eye doctors can play an important role in diagnosing this disease and many other health problems. Schedule an eye exam anytime you see changes in your eyes or vision.
READ NEXT: 8 serious conditions that can be found during an eye exam
