If you’ve never heard of Fuchs’ dystrophy, you aren’t alone. This rare, hereditary disease often lays dormant in people until they reach middle age. Once the symptoms begin to appear, there isn’t much that can be done to stop the disease.
The exact number of people affected by Fuchs’ (pronounced fooks) dystrophy is not known. However, it is estimated that 897 per million people are affected by some type of corneal dystrophy. Of that, 60 percent is estimated to be endothelial dystrophies, like Fuchs’.
This dormant disease can cause vision loss over time and needs to be identified quickly to receive effective treatment.
What Is Fuchs’ Dystrophy and How Is It Diagnosed?
Fuchs’ dystrophy is a strange disease. It affects the thin layer of cells called the endothelium, which resides at the back of the cornea. Though this layer is thin, it plays an important role in keeping your corneas healthy and clear.
The endothelium cells regulate the fluid in the cornea. The proper amount of fluid in the cornea will keep it clear to promote sharp central vision. The endothelium cells drain any excess fluid from the cornea.
However, Fuchs’ dystrophy causes these necessary cells to degenerate slowly over time and often without any signs or symptoms. When the endothelium cells can no longer function, the cornea fills with fluid. As a result, the cornea can become blistered and clouded.
Fuchs’ dystrophy largely goes unnoticed by those afflicted by the condition. It may seem to remain dormant until middle age, when the cells begin to die off. When this happens, only your doctor can tell you if you truly have the disease.
Diagnosing Fuchs’ dystrophy is a rather easy process compared to other diseases, using an instrument called a pachymeter. This medical device is used to measure the thickness of the cornea and can also be used to diagnose glaucoma.
There are two ways this medical device can be used: contact or no contact. Contact pachymeters use ultrasounds to determine the thickness of the cornea. Non-contact pachymeters, on the other hand, will use a special camera to measure. Both versions of the procedure are non-invasive and safe.
When the fluid is not properly drained from the cornea, it becomes swollen. Your doctor will be able to see how bad the swelling is when they measure it.
Your doctor may also take a detailed photo of your cornea to count the number of endothelium cells left. If there is a significant amount of cells gone, then chances are you have this rare condition.
Fuchs’ dystrophy can sometimes be difficult to diagnose because it is so rare. Doctors may also consult your family’s medical history as this disease is hereditary.
What causes the degeneration of these essential cells? Truth be told, there is no known cause, which makes treating the disease difficult. The disease is often considered hereditary; however some people without a family history of Fuchs’ dystrophy may also have the disease.
According to the American Association of Ophthalmology, there is a 50 percent chance that people who inherited Fuchs’ dystrophy from their parents will pass the disease onto their children.
Though not all cases are hereditary, it is thought that those who do not have a family history of the disease developed it due to a genetic mutation. What causes this mutation is unknown.
The process of inheriting the mutated gene that causes Fuchs’ dystrophy is complicated and has stumped genetic researchers. Professionals have found that the mutation affects the COL8A2 gene. However, the inheritance pattern of the mutated gene is never consistent, hence the 50/50 chance of passing it on to the next generation.
In any case, if you fear you might pass this disease onto your children, it is recommended that you speak to genetics specialist who can help you to better understand this complex disease.
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Signs and Symptoms
As we mentioned, many people don’t know they have the disease until they reach middle age around 40 or 50 years old. The disease will have progressed so much by then that it will begin to affect your vision. The disease is normally separated into two stages.
In the first stage of the disease, you may notice slight disturbances in your vision such as waking up with hazy vision that gradually gets better throughout the day. The reason this happens is because while your eyes retain fluid at night (when the eyes are closed), they drain much more slowly in the morning when you open them because the cells are not working as they should.
In the second stage of the disease, a similar symptom may be experienced, but your vision won’t improve throughout the day. This is because the fluid is not draining from the eye. As a result, blisters may begin to form on the cornea. When these blisters break, they can cause massive amounts of eye pain that require medical attention.
Other symptoms that may occur during the second stage include sensitivity to light, trouble seeing in the dark or low lighting, blurry central vision, and sensitivity to humidity.
Unfortunately, complex diseases such as Fuchs’ dystrophy rarely have a cure. However, there are ways to live with the disease and preserve the vision that is left. The treatments work best before the eyes have entered the second stage of the disease. If you experience symptoms of first stage Fuchs’ dystrophy, call your doctor.
The most common treatment for this condition is to use ointments and eye drops to control the swelling of the cornea. This will improve your vision, as well as reduce your risk of developing blisters.
If ointments and eye drops don’t appeal to you, a non-medicated way to treat a swelled cornea is to blow air into your eyes to dry out the surface of the cornea and prompt fluid draining.
The best and safest way to do this is to use a hairdryer. Hold the dryer at arm’s length, facing your eyes. Set it to a low and warm setting. Gently blow it onto your entire face. Be careful not to hold the hairdryer too close to the eyes as it can cause pain and may lead to over drying.
Talk to your doctor if you think you may be suffering from the rare condition, Fuchs’ dystrophy and find the best treatment available for you!
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