From Genes to Guttae: Integrative Imaging and Genetic Profiling for Preclinical Detection of Fuchs endothelial dystrophy

Brief plain language background 

FECD is a common age-related disease that causes the cornea, the clear window at the front of the eye, to swell and become cloudy. The only effective treatment is corneal transplantation using healthy donor tissue. FECD is often caused by a genetic mutation in the TCF4 gene, where a repeated section of DNA becomes abnormally long, but we do not yet fully understand how this affects disease severity or how fast it progresses. 

What problem/knowledge gap does it help address 

By the time symptoms appear in FECD, significant and irreversible damage has often occurred. There are also no reliable tools to predict which patients will worsen or when surgery may be needed. Crucially, researchers don’t yet have reliable ways to measure whether new treatments are working, which makes it harder to test and approve them. This research addresses these gaps by studying early eye changes and their genetic links, laying the foundation for future risk assessment tools and better ways to measure early disease. These will help support testing of new therapies designed to prevent vision loss. 

Aim of the project 

To detect early signs of FECD using advanced eye scans and genetic testing. This could help spot disease before symptoms begin, tailor treatment to personal risk, and create reliable measures to test whether new treatments work in future clinical trials. 

Potential impact on people with sight loss 

In the short term (1–2 years), this project could help detect FECD earlier, especially in people with higher genetic risk. These tools may be used before cataract surgery to prevent avoidable damage to the cornea. In the longer term (3–5 years), the findings will support testing of new treatments that could avoid the need for corneal transplantation surgery. By including people from different backgrounds, the project also helps make sure future tests and treatments work for everyone at risk of sight loss from FECD.