What Is Fuchs' Dystrophy?
Fuchs’ Dystrophy is an inherited disease that causes deterioration in the cells that form the endothelium, the innermost layer of the cornea. The endothelium’s normal role is to pump water out of the stroma, the thickest layer of the cornea. As the endothelial cells reduce in number, the remaining cells become thick or swollen. These cells also become less efficient at pumping water out of the stroma.
Fuchs’ Dystrophy is a progressive disease, which means that it changes gradually over time. It affects both eyes, and is slightly more common in women than in men. As the disease progresses, it can begin to impact vision. The damaged endothelial cells will begin to produce dew-drop shaped outgrowths which are called guttate. Changes in these cells may cause the cornea to swell and to become cloudy, resulting in vision impairment.
Although Fuchs’ Dystrophy normally begins when you are in your 30s or 40s, you may not experience vision impairment for 10 years or more. Many people with this disease first notice a haziness or blurring of vision when they awake. This will clear during the day. This blurriness is caused by fluid retention during sleep. With your eyes closed, water is unable to evaporate from your eye. This is Stage 1 of the disease. Many patients have mild Fuchs' Dystrophy and remain stable for many years.
If Fuchs’ Dystrophy progresses to Stage 2, the blurriness will not improve during the course of the day. This is because the endothelium is unable to drain water from the stroma, and the swelling of the cornea remains. At this stage, you may also begin to experience pain as well as sensitivity to light. You may also notice that climate conditions, such as high humidity, are making the problems worse.
In Stage 2, blisters may also erupt on the surface of the cornea. This can be extremely painful and may cause scarring. While the disease may progress slowly, it is possible for the blistering and scarring to occur rapidly, resulting in severe impairment of your vision. However, with the current surgical technologies now available, your ophthalmologist can recommend options to replace the damaged tissue before Stage 2 changes become severe.
Who Is at Risk for Fuchs’ Dystrophy?
If you have a parent who has the Fuchs’ Dystrophy gene, you have a 50-percent chance of developing this disease. If you are a woman, your risk of inheriting the disease is slightly higher than the risk for a man.
Unfortunately, the older we are, the less likely we are to know if our parents carried the gene. This is because the technology used to detect the disease was not widely available many years ago. In addition, if our parent did not have symptoms, he or she may have carried the gene and been unaware of it.
If you are diagnosed with Fuchs’ Dystrophy, it is important that your children and siblings be monitored on an annual basis.
How Is Fuchs’ Dystrophy Detected?
Your doctor will use a slit lamp examination to detect Fuchs’ Disease. This allows him / her to exam magnified images of the endothelial cells. Your doctor may also use an instrument called a pachymeter that uses ultrasound to measure the thickness of your corneas. Both of these examinations are painless.
How Is Fuchs’ Dystrophy Treated?
Your treatment for Fuchs’ Dystrophy will depend upon the severity of your disease and your overall eye health. Your doctor may prescribe eye drops or ointment to minimize the swelling in the cornea. These drops or ointment are a sodium chloride (salt) treatment that helps pull moisture from the eye.
If your disease progresses to the point that your vision seriously interferes with your life, your doctor may recommend a corneal transplant. This procedure, which is called a penetrating keratoplasty, replaces your cloudy cornea with a clear cornea from a donor. Of all the surgical transplants, corneal transplants are the most common and the most successful. Some patients are candidates for a transplant called DSEK (Descemet's Stripping Endothelial Keratoplasty) as well, which involves replacing only the most damaged inner layer (endothelium) of the cornea.
Fortunately, in the vast majority of patients, the disease does not always progress to the stage at which a corneal transplant is required. Each person is unique and will respond differently to treatment. It is important for you to closely adhere to your doctor’s instructions to minimize the corneal swelling. In addition, once you are diagnosed with Fuchs’ Dystrophy, you (and your children) will need to see your doctor at least once a year, so that he can carefully monitor the progression of this disease.