AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial
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 using…
Clinicians assisted by Retina4IRD achieved higher top-5 genetic diagnosis accuracy and better downstream management scores for suspected inherited retinal disease compared to specialist-only care.
Evidence
- Peer-reviewedNature Medicine2026-07-24
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Truvace Impact Record TRV-2026-0575, v1: “AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.” Truvace, 2026-07-27. /record/TRV-2026-0575 (accessed at citation time). sha256 f0a66ad73dbaaaf7…
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