Developing a model of corneal dystrophy to seek alternatives to invasive surgery

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.

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, causes corneal swelling and clouding - leading to vison loss or blindness.

Currently, the only treatment for FECD is corneal transplantation surgery, which can result in tissue rejection and is used only to treat the disease in its advanced stages. Furthermore, there is currently a global shortage of healthy donor corneas, and so the need for more effective treatments is urgent.

What was 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 aimed to further understand the relationship between mutations of this gene and FECD, using a disease model created from cells donated by patients undergoing planned corneal surgery.

How will this research help to beat sight loss faster?

The results of this project have been hugely promising. The cell model enabled Dr Davidson's team to establish a new biological marker of FECD. This discovery allowed them to successfully test a new genetic therapy for the disease in an early-stage clinical trial with patients - a crucial step in the development of a new treatment. 

Further findings made through this project, in collaboration with researchers at the University of Glasgow, have provided new insights into the genetic causes of FECD that could help to improve risk predictions for the disease, and aid the development of new diagnostic tools. 

Further information

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