Breakthrough in predicting cause of Inherited Retinal Diseases (IRDs) with help of AI.

A new artificial intelligence tool, Eye2Gene, developed by researchers at University College London (UCL) and Moorfields Eye Hospital, has been shown to accurately predict the genetic cause of inherited retinal diseases (IRDs) directly from routine eye scans. The study, published in Nature Machine Intelligence, marks a major step forward in accelerating genetic diagnosis for IRDs—one of the leading causes of blindness in working-age people. To this day, patients affected by these conditions face diagnostic odysseys.

This breakthrough was made possible thanks to vital funding from Sight Research UK, whose continued support enabled the  research underpinning Eye2Gene’s development. The model was trained on one of the world’s largest IRD imaging datasets and validated internationally across five clinical centres.

Associate Professor Nikolas Pontikos and Prof Michel Michaelides who lead this study said:

By prioritising likely gene diagnoses and helping to guide genetic testing, Eye2Gene could significantly reduce the diagnostic journey for people with inherited sight loss and improve access to gene-based treatments and trials.