AI in eye scans helps improve diagnosis of inherited retinal disease

#genetictesting #artificialintelligence #ophthalmology

Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate genes. Outside specialist centres, there are few experts who have adequate knowledge of these
diseases, and this makes it difficult for patients to access proper testing and diagnosis. But now, researchers from the UK and Germany have used artificial intelligence (AI) to develop a system that they believe will enable more widespread provision of testing, together with improved efficiency.
Eye2Gene, an AI system is capable of identifying the genetic cause of IRDs from retinal scans. The researchers were able to utilise Moorfields Hospital’s vast database of information on IRDs, covering over 30 years of research.

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