Revolutionary AI reads eye scans to diagnose rare genetic diseases

NCT ID NCT06839170

First seen Jan 08, 2026 · Last updated Jun 03, 2026 · Updated 30 times

Summary

This study tested a new AI system called Retina4IRD that helps doctors diagnose inherited retinal diseases (IRDs) — rare genetic conditions that can cause vision loss. The AI analyzes eye images and patient information to predict which gene is causing the disease. In a trial with 300 participants, the system showed it could make accurate diagnoses quickly, potentially replacing the slow and expensive traditional process.

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Contacts and locations

Locations

  • Shanghai General Hospital, Shanghai Jiao Tong University

    Shanghai, 200080, China

  • Shanghai general hospital

    Shanghai, China

Conditions

Explore the condition pages connected to this study.