Dr Alice Davidson at University College London is investigating the cause of Fuchs endothelial corneal dystropy (FECD) and testing for new potential therapies. 

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, which, if left to accumulate, causes corneal swelling and clouding leading to loss of vision and/or blindness.

When this accumulation of water happens, a disease called Fuchs endothelial corneal dystrophy (FECD) occurs. FECD is characterised by corneal endothelial cell death, is a common, age-related, disease estimated to affect more than 4% of individuals over 40 years of age. A genetic mutation in a gene called TCF4 is the most common cause of FECD. Researchers have recently discovered that approximately 75% of FECD patients in the UK have a mutation in the TCF4 gene.

Currently, the only treatment for FECD is invasive corneal transplantation surgery to restore vision and prevent blindness. This treatment relies upon specialist facilities and is dependent on the availability of healthy donor material, of which there is currently a global shortage. Graft rejection and the need for systemic immunosuppression in some individuals, coupled with the global ageing population, highlight the need for alternative and effective treatment strategies to be developed for FECD.

Dr Alice Davidson’s study at University College London aims to further understand the relationship between mutations in the TCF4 gene and FECD. In order to investigate the biological reasons for the disease, the project will use a model system that the research team has previously developed using donated corneal endothelial cells removed from FECD 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.

The cell model of FECD will also be used to enhance our understanding of the biological reasons for disease. In particular, cutting-edge technology will be used to develop a genetic test for FECD that will have the potential to accurately identify pre-symptomatic individuals. This would provide a critical window of opportunity to prevent and treat the condition before sight loss occurs in the individuals whose TCF4 gene is susceptible to a mutation. Given the relatively late onset of FECD and the accessibility of the cornea, it is envisaged that discoveries made as part of the study will, in the longer-term, impact upon patient care by providing a pre-symptomatic diagnostic test and preventative therapies for FECD to reduce the need for corneal transplantation.

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