Eye2Gene harnesses AI to identify genetic causes of sight loss
20 June 2025
A new artificial intelligence (AI) tool will help to improve the diagnosis of inherited retinal diseases, thanks to early and ongoing support from Moorfields Eye Charity.
These conditions can lead to progressive vision loss and are often difficult to diagnose due to their genetic complexity.
Developed by researchers at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, the tool, called Eye2Gene, uses retinal images to predict the genetic cause of a patient’s condition. A recent study, published in Nature Machine Intelligence, analysed data from nearly 4,000 patients across six international centres and is the largest of its kind.
The project began in 2019 with a Career Development Award from Moorfields Eye Charity, said the lead researcher, Associate Professor Nikolas Pontikos from the UCL Institute of Ophthalmology.
That was instrumental in getting the project and my career as PI off the ground. This was made possible through the initial Moorfields Eye Charity award that opened this opportunity to me.
Associate Professor Nikolas Pontikos
Eye2Gene aims to shorten what is typically a long diagnostic journey.
Patients are often sent from ophthalmologist to ophthalmologist trying to find what the likely diagnosis is. The point of Eye2Gene is to try and get these patients to a diagnosis sooner.
Associate Professor Nikolas Pontikos
The tool is not a replacement for genetic testing, which remains the gold standard. However, it can improve the speed and accuracy of genetic diagnosis by helping to interpret results and streamline referrals.
It is amplifying and improving the rate at which genetic diagnosis can be done.
Associate Professor Nikolas Pontikos
The research team worked closely with patients to co-design the Eye2Gene website and Eye2Gene reports, ensuring clear, sensitive communication. This prompted the team to create digestible information patients can review after short consultations.
We were surprised many patients don’t fully understand or remember their genetic diagnosis. Some want to know the outlook, others prefer less detail.
Associate Professor Nikolas Pontikos
Reports that combine AI results with expert guidance and focus on therapies and next steps, will help patients stay engaged and hopeful. This approach has raised awareness and helps to improve understanding of rare genetic eye diseases.
Associate Professor Nikolas Pontikos
Eye2Gene is already available online for research and integrated into some clinical imaging systems from Heidelberg Engineering. With additional funding from Sight Research UK and the Medical Research Foundation, the team is now preparing for further validation in NHS clinics and across international centres.
By supporting this work from the beginning, Moorfields Eye Charity helped us turn years of patient data into a tool that can transform diagnosis and care for people with inherited eye conditions. None of this would have been possible without the Career Development Award from Moorfields Eye Charity.
Associate Professor Nikolas Pontikos
