Research led by UCL Institute of Ophthalmology and supported by NIHR Moorfields Biomedical Research Centre, investigated a genetic alteration in the TCF4 gene that increases the risk of developing Fuchs’ endothelial corneal dystrophy (FECD).
The severity of the disease was linked to the number of copies of a repetitive DNA sequence called CTG18.1.
The study of 894 FECD patients found that more than 50 copies of the CTG repeat were more prevalent in people of European and South Asian descent and confirmed that FECD is more common in women, with a larger disparity in patients who do not have the CTG18.1 expansion.
Professor Alice Davidson, UCL lead investigator, said: ‘By uncovering the critical role of the CTG18.1 repeat expansion in the TCF4 gene, we are paving the way for more personalised approaches to treatment.’