Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

ABSTRACT: 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, Eye2Gene, trained on a large multimodal imaging dataset of individuals with IRDs (n = 2,451) and externally validated on data provided by five different clinical centres, provides better-than-expert-level top-five accuracy of 83.9% for supporting

SUBMITTER: Pontikos N 

PROVIDER: S-EPMC12185311 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature