AI eye doctor: new tool aims to spot rare retinal diseases
NCT ID NCT06839170
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tested an artificial intelligence (AI) system called Retina4IRD that helps doctors diagnose inherited retinal diseases, which are rare eye conditions that can cause vision loss. The AI looks at eye images and patient information to suggest which gene might be causing the disease. Researchers tested it with 295 people and measured how often the AI's top five guesses included the correct gene. The goal is to make diagnosis faster and more accurate.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- AI diagnostic system (FM-IRDs / Retina4IRD)
- What this could lead to
- If successful, this AI could help doctors diagnose inherited retinal diseases faster and more accurately, potentially improving patient care.
- What could go wrong
- This is a completed trial, but the AI's accuracy may not be perfect in all cases, and it may not work as well in different populations or real-world settings.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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300 people
The number who actually took part.
- Started
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Feb 2025
- Finished
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Jul 2025
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Presenting with clinical features suggestive of suspected IRD based on the initial assessment by the physician Exclusion Criteria: * Refusal to undergo WES genetic testing. * Screening for a history of intraocular surgery in both eyes within the past 6 months; * Subjects with severe systemic diseases, intellectual developmental disorders, psychiatric illnesses, etc. * Patient data that the investigator deems necessary to exclude.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Shanghai General Hospital, Shanghai Jiao Tong University
Shanghai, 200080, China
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Shanghai general hospital
Shanghai, China
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