Eye health

Rare eye diseases are a leading cause of blindness in children and young adults in the UK. These include diseases affecting the retina, the light-sensitive tissue at the back of the eye, or the cornea, the transparent tissue at the front of the eye that focuses light. Unfortunately, many of these conditions have no cure.

A notable exception is Leber Congenital Amaurosis, caused by RPE65 gene mutations, which has been treatable with Luxturna since 2018. Approved in 34 countries, this drug remains one of the few options available. Another treatment for a different eye disease, targeting RPGR gene mutations, is in clinical trials and could be available in the UK by 2027-28 if proven safe and effective.

Identifying eligible patients is crucial, but traditional genetic tests can be expensive and impractical, especially for children. Retinal imaging, particularly widefield imaging, offers a faster and more accessible alternative. Since Luxturna's introduction, doctors have more closely monitored treated patients for potential side effects using retina images.

Dr Nikolas Pontikos from University College London and his team in the UK and Germany are developing two new AI tools to enhance patient care. AI-RetMAPP monitors retinal changes post-treatment, while Eye2Gene predicts genetic mutations from retinal images, screening for up to 50 genes. However, Eye2Gene currently does not support widefield imaging, which is more commonly used in children.

This Foundation-funded project aims to refine both AI tools for widefield imaging, improving their ability to identify and track patients who may benefit from current and future treatments. Researchers at the University of Cambridge are ensuring the technology respects patient privacy and validating AI predictions with genetic testing.

Ultimately, this research could transform how rare eye diseases are diagnosed and treated in young patients, ensuring they receive the best possible care.