What is Fuch's dystrophy?

Fuchs dystrophy (or Fuchs endothelial corneal dystrophy) causes gradual loss of vision and is a common, age-related disease, that is usually inherited. It is characterised by corneal endothelial cell death, leading to swelling of the cornea. It is estimated to affect more than 4% of people aged over 40.

Currently, the only treatment for Fuchs dystrophy is invasive corneal transplantation surgery to restore vision and prevent blindness. Only through more research can new preventative treatments be found.

Causes of Fuch's dystrophy

Fuchs dystrophy occurs when the cells lining the inner cornea, called the endothelium, begin to deteriorate. The cornea is the transparent tissue situated at the front of the eye. It protects the eye from the external environment and focuses light onto the retina. The innermost part of this tissue is comprised of a specialised layer of corneal endothelial cells. These cells perform a pump-like mechanism removing water from the outer layers of the cornea. When the cells do not function properly, this water accumulates, leading to corneal swelling and clouding – resulting in loss of vision and, in more severe cases, complete loss of sight.

Fuchs dystrophy is a genetic condition which means that the disease is usually inherited. If either of your parents has the disease, you have a 50% chance of developing it also. In many cases, the precise underlying cause of the disease is unknown, but a mutation in a gene called TCF4 has been shown to be a common cause of Fuchs dystrophy. Researchers have recently discovered that approximately 75% of UK patients with this condition have a mutation in the TCF4 gene.

Symptoms of Fuch's dystrophy

Fuchs dystrophy causes cloudy vision, most commonly in both eyes, that usually develops slowly over 10 to 20 years.

Symptoms include:

  • Blurred or foggy vision
  • Sensitivity to light
  • Pain in your eyes
  • Coloured halos around lights
  • Difficulty seeing at night
  • Poor vision upon awakening that may improve later in the day

Diagnosis of Fuch's dystrophy

If you notice problems with your vision, and any of the symptoms above, make an appointment with your optician or your GP who may refer you to a specialist, if necessary.

Fuchs dystrophy is usually detected by eye examination by an optometrist (usually at your optician) or by an ophthalmologist (usually at your local eye clinic). It can often be detected before you notice any changes to your vision, but the optometrist can detect changes to your cornea before you experience any symptoms. At this stage, no treatment is needed as long as your vision is not affected, but your optometrist may refer you to your local eye clinic for an eye examination with an ophthalmologist.

Treatment of Fuch's dystrophy

Early stage treatment for Fuchs dystrophy can include eye drops to help remove excess water from the cornea.

For more advanced Fuchs dystrophy, the only treatment currently available is corneal transplantation surgery to restore vision and prevent blindness.

Corneal transplants depend on the availability of healthy donated corneas and the operation is carried out in eye hospital clinics, typically as outpatient surgery. However, there is a global shortage of donated corneas, so the waiting list is often long for this procedure. In addition, complications of corneal transplant include graft rejection and the need for immunosuppressive drugs.

Therefore, there is an urgent need to develop alternative, non-invasive treatments for Fuchs dystrophy.

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