Post by Shane (Siyin) Liu

Fuchs endothelial corneal dystrophy is one of the leading reasons patients require corneal transplantation surgery, but not every patient follows the same path. Some remain stable for years. Others progress to corneal swelling and visual loss much earlier. At present, predicting who will progress remains difficult. In our previous work at Moorfields and UCL, we showed that the CTG18.1 repeat expansion in TCF4 is a major genetic determinant of FECD risk and severity: https://lnkd.in/equ7X5Ab In this new study, now published in Ophthalmology, we asked: Can genetics predict not only disease risk, but disease progression? We found that combining this high-impact mutation (CTG18.1) with a polygenic risk score can predict progression to corneal transplantation surgery. More broadly, this work highlights a shift in genomic medicine: → from predicting who gets disease   → to predicting who progresses and who may benefit most from treatment A step closer to truly personalised medicine in ophthalmology. Paper🔗: https://lnkd.in/eDtbqSWA Huge thanks to all co-authors, collaborators, patients, and clinical teams involved in this work. Anita Szabo Christina Zarouchlioti Nihar Bhattacharyya Quang Nguyen Marcos Costa Martin Horák Professor Anthony Khawaja Nikolas Pontikos Alice Davidson #Ophthalmology #Genetics #GenomicMedicine #PrecisionMedicine #Cornea #FECD #PolygenicRiskScore #CornealTransplantation