Artificial intelligence (AI) could save countless patients from blindness, a new study claims. A team of researchers announced that they have developed an eye scan that uses artificial intelligence (AI) to help improve the diagnosis of inherited retinal disorders (IRDs). The retina is a small membrane at the back of the eye that contains light-sensitive cells. These monogenic diseases that affect the retina are said to be rare and very difficult to diagnose because they involve alterations in one of many candidate genes.
Doctor
Nicholas Ponticos
The team, a group leader at the Eye Institute at University College London and Moorefields Eye Hospital, has developed an AI system, Eye2Gene, that can identify the genetic causes of IRD from retinal scans.
“Identifying the causative gene from retinal scans is considered very difficult even among experts, but AI can achieve this with greater accuracy than most human experts.” Ponticos said in a media release.
Identification of genes involved in retinal diseases is often performed using patient phenotypes defined using the Human Phenotype Ontology (HPO).of
HPO
In the future, Eye2Gene could easily be integrated into standard retinal tests. “Further evaluation of Eye2Gene is needed to evaluate its performance on different types of IRD patients in different ethnicities, different types of imaging devices, and different settings,” the researchers said.
The findings of this study were shared at the recent annual meeting of the European Society of Human Genetics.
