Eye2Gene: Predicting Causal Genes from Ocular Images of Inherited Retinal Disease (11 Jul 2023)

Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working age adults worldwide. A growing number are now being targeted in clinical trials, with approved treatments increasingly available. However, access requires a genetic diagnosis to be established sufficiently early. Critically, the timely identification of a genetic cause remains challenging. We demonstrate that a deep learning algorithm, Eye 2 Gene, trained on the largest imaging dataset of patients with IRDs currently available, provides expert level accuracy for genetic diagnosis for the 36 most common molecular causes (top 5 accuracy = 85.6%). This algorithm has been deployed online (app.eye2gene com) and externally validated on data provided by four different clinical centers. Eye 2 Gene can facilitate access to diagnostic expertise, only currently available in a limited number of specialist centers globally, and thereby dramatically accelerate the genetic diagnostic odyssey.