AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial
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H Jia, B Qian, Y Qu, J Wang, J Chen, T Li, C Zheng…
Nature Medicine, 2026
nature.com
The accurate and timely diagnosis of inherited retinal diseases (IRDs) represents an unmet clinical need in ophthalmology, as the current pathways rely on resource-intensive phenotyping, multidisciplinary expertise and genetic testing. Here we developed Retina4IRD, an artificial intelligence (AI)-based clinician decision support system (CDSS) that predicts 17 genotype categories from retina images. Retina4IRD uses a Vision Transformer model pretrained with RETFound. We then trained and validated Retina4IRD …

