Project background: why is this research needed?

Fuch's Endothelial Corneal Dystrophy (FECD) is a common, age-related, disease of the cornea, which is estimated to affect more than 4% of individuals over 40 years of age (that’s over 1.2 million in the UK).

The cornea is the transparent tissue at the very front of the eye. It protects the eye from the external environment (dust, germs, UV rays), and focuses light onto the retina. FECD causes the rapid loss of specialised endothelial cells, which control the flow of fluids and nutrients in and out of the cornea. These endothelial cells perform a pump-like action, removing water from the outer layers of the cornea, which, if left to accumulate, cause corneal swelling and clouding - leading to vison loss or blindness.

Currently, the only treatment for FECD is invasive corneal transplantation surgery. This treatment relies upon specialist facilities and is dependent on the availability of healthy donor material, of which there is currently a global shortage. Furthermore, this surgery has a high incidence of tissue rejection, and so the need for more effective treatments is urgent.

What is the aim of the project?

Recently, researchers have discovered that approximately 75% of patients with FECD in the UK, have a genetic mutation in a gene called TCF4. Dr Davidson’s study aims to further understand the relationship between mutations of this gene and the disease.

In order to investigate the biological reasons for FECD, her team will create a cell model using donated corneal endothelial cells removed from patients as part of their planned surgery. This model will be used to test the response of diseased cells to potential new therapies for FECD, designed to target the common TCF4 mutation that causes disease.

In addition, the cell model will also be used to develop a genetic test for FECD that will have the potential to accurately identify pre-symptomatic individuals.

How will this research help to beat sight loss faster?

It is hoped that discoveries made as part of the study will eventually help to reduce the need for corneal transplantation. The development of a genetic test to identify pre-symptomatic individuals would provide a critical window of opportunity to prevent and treat FECD before sight loss occurs, in people whose TCF4 gene is susceptible to a mutation.

Further information

You can find more about the causes and symptoms of FECD here.