What is Fuchs’ Corneal Dystrophy?

fuchs' syndrome exampleFuchs’ Corneal Dystrophy is named for the Austrian ophthalmologist Ernst Fuchs, who first described the condition in 1910. He described thirteen patients who suffered from corneal clouding, blisters on the corneal epithelia and loss of corneal sensation.

“Dystrophy” refers to any disorder or condition in which a particular tissue or organ of the body wastes away. In Fuchs’ Dystrophy, the tissue that wastes away is the corneal endothelium. Just as epithelium refers to an external skin layer, endothelium refers to an internal skin layer. The corneal endothelium is the back layer of the cornea.

Originally, Fuchs thought the problem was due to changes in the corneal epithelium because changes occur there as a result of the malfunction of the endothelium. But later study revealed the problem originated in the endothelium. The corneal endothelium is responsible for removing fluid and wastes from the cornea. In Fuchs’ Dystrophy, cells of the corneal endothelium deteriorate. Outgrowths appear on the endothelium, called guttae (meaning “drops”). Another layer of the cornea, Descemet’s membrane, thickens and forms abnormal bands of collagen. These changes lead to fluid accumulation and clouding in the cornea. Eventually, the fluid buildup also affects the epithelium, causing a type of blisters, known as bullae, to form. These blisters can be tremendously painful, giving a continual sensation of having hair or sand in one’s eye.

The clouding of the cornea leads to a number of symptoms including blurry vision that may improve throughout the course of the day, the appearance of halos around lights, distorted vision and the chronic sense of having a foreign body in the eye. Fuchs’ is a degenerative condition that worsens over time. It can lead to eventual blindness. It almost never appears until the thirties or forties, but it is much more common after the age of fifty. It occurs more frequently in women than in men. Its prevalence has not been clearly researched but it is estimated at 1 in 2000 people, with a somewhat higher prevalence in European populations.

Fuchs’ Dystrophy has a complex genetic component such that its level of manifestation varies widely from individual to individual, but it can run in families. In such cases, as many as half of the offspring of a Fuchs’ sufferer may also develop the disease. In severe cases it has also been linked to abnormalities in production of Collagen VIII. People who have the condition also show a higher-than-normal level of oxidative stress in their eye tissue as well as elevated inflammatory markers. In severe cases, sufferers may have chronically red, irritated eyes as the blisters that form on the corneal epithelium burst, leaving rough, raw areas that remain irritated.

Fuchs’ Dystrophy is usually diagnosed with a comprehensive eye exam in which the ophthalmologist examines the cornea with a slit lamp. Under magnification, early changes to the endothelium can be seen. Pachymetry, which measures the thickness of the cornea, and specular microscope examination, which allows the eye doctor to see the cells at the back of the cornea, may also be used for diagnosis. Visual acuity is a standard part of any eye exam, but it also adds information about the likelihood of Fuchs’.

Treatments for people in the early stages of the disease are relatively simple and are designed to draw fluid out of the cornea and protect the eyes from light exposure. They include the use of hypertonic saline eye drops, using a blow dryer held at arm’s length to dry out the eyes 2-3 times per day, and the use of special contact lenses for the same purpose. Botulinum toxin has been shown to also produce improvement lasting several months. Wearing sunglasses and/or a wide-brimmed hat are also recommended.

Later treatment requires surgery in the form of a full or partial corneal transplant. Improvements in these techniques have led to better visual outcomes for most patients.
Varieties of corneal transplant include penetrating keratoplasty (PKP), deep lamellar endothelial keratoplasty (DLEK) and Descemet’s stripping with endothelial keratoplasty (DSEK). Most people receive enough visual correction to require only a mild eyeglass prescription.

Because Fuchs’ Dystrophy is a degenerative condition, lifestyle factors can be critical in slowing it down. Wearing sunglasses, quitting smoking, getting enough exercise and paying attention to diet are critically important. A diet that generates low oxidative stress may be helpful. Such a diet includes limited, organic animal proteins; lots of vegetables – especially green, leafy vegetables; healthy fats, including butter and coconut oil; and whole grains. Fried food, charred meat, and processed foods generate a great deal of oxidative stress and should be avoided.

Supplements aimed at supporting cellular health and reducing oxidative processes may be of benefit. Such supplements include: essential fatty acids, which are found in fish oil; antioxidants, especially ones known to support eye health such as lutein and zeaxanthin; taurine; bioflavonoids; zinc; selenium; turmeric; and vitamin B-complex. Essential fatty acids not only reduce inflammation, but support the health of all cell membranes which are largely composed of lipids. Antioxidants help clear away free radicals — free radicals cause cell damage and death. Taurine is an amino acid that plays an important role in vision pathways. Bioflavonoids are plant metabolites that demonstrate a wide range of beneficial effects in the human body including anti-allergic, anti-inflammatory, antioxidant and anti-cancer effects. Zinc and selenium are minerals important to eye health. Turmeric reduces inflammation and redirects cells to perform properly, thereby slowing apoptosis, or cell death, the chief problem in Fuchs’ Dystrophy. B vitamins play a huge number of roles in human health.
Research directions include gene studies, examination of inflammation, implicated biomolecular pathways, and environmental factors. More information in the future will help create new and better treatments for Fuchs’ Dystrophy.

Regular eye exams are an important part of health maintenance, but especially if you or a relative show signs or symptoms of an eye problem, it is essential to get an exam. Many eye conditions have a much better prognosis when caught and treated early, and Fuchs’ Dystrophy is no exception.

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