Heidelberg Engineering proudly announces a significant advance in the use of artificial intelligence for ophthalmic diagnostics, with the publication of the Eye2Gene™ study in Nature Machine Intelligence. Titled “Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene”, the study highlights the potential of AI-powered analysis of multimodal SPECTRALIS® imaging to accelerate genetic diagnosis in patients with inherited retinal diseases (IRDs).
Eye2Gene leverages Fundus Autofluorescence (FAF), Infrared Reflectance (IR), and spectral-domain OCT (SD-OCT) to predict the likely causative gene in IRD cases.
The AI system was trained on 58,030 multimodal retinal scans from 2,451 patients with confirmed genetic diagnoses. Covering 63 disease-associated genes, Eye2Gene captures more than 90% of IRD cases in Europe, demonstrating a broad clinical relevance.
An accuracy of 76% was reached when interpreting only FAF images, results that were consistently reproduced across five independent clinical centers - including institutions in Japan, Bonn, Oxford, and Liverpool.
FURTHER INFORMATION:
T: +44 (0)1442 502332
E: Info-UK@HeidelbergEngineering.com
W: www.eye2gene.com
