Post

New research · AI in Medicine
Nature medicine · 6d
AI / informaticsNature medicine · 2026

AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.

Huixun Jia, Bo Qian, Yanlin Qu … Xiaodong Sun
Read paper
AI in MedicineAI / informatics

Retina4IRD assistance improved top-5 genetic diagnostic accuracy for suspected inherited retinal diseases.

AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.

Huixun Jia … Xiaodong Sun
Nature medicine · 2026
Background

The accurate and timely diagnosis of inherited retinal diseases (inherited retinal diseases) represents an unmet clinical need in ophthalmology, as the current pathways rely on resource-intensive phenotyping, multidisciplinary expertise and genetic testing.

Methods

We conducted a randomized controlled trial with 300 participants with suspected inherited retinal diseases randomized 1:1 to either Retina4IRD-assisted specialist arm or specialist-only arm.

n = 3,376 eyes
Results

Top-5 genetic diagnoses were more accurate with Retina4IRD-assisted specialists.

88.5%
Retina4IRD-assisted sp
67.3%
specialist-only arm
More results

Retina4IRD uses a Vision Transformer model pretrained with RETFound.

The top-5 prediction accuracy was 0.904 (95% confidence interval (CI): 0.896-0.912) and 0.856 (95% CI: 0.850-0.863) for internal and external validation, respectively.

More results

For secondary endpoints, top-1 to top-4 accuracies all favored the Retina4IRD-assisted specialist arm, with top-1 accuracy of 37.8% versus 22.4% and top-4 accuracy of 81.8% versus 53.1%, respectively.

“
Conclusion

Our study shows that Retina4IRD is a clinician decision support system tool prior to genetic testing and aligns with clinical workflow for patients with suspected inherited retinal diseases.

Read paper
0 comments

No comments yet. Be the first.

Related papers

LatestFoundational
Cross-sectional
44.1%
had too much homocysteine in the blood, a far larger share than in dry AMD or healthy eyes
Cohort Study
92.3%
most laser-treated eyes had a favorable eye-structure outcome
Cohort Study
56%
lost three or more lines on the eye-chart vision test
Cohort Study
50%
older patients were more likely to lose three or more lines of vision
Study
81%
trials where mask air leaks were detected blowing toward the eyes
Cohort Study
13.5%
Central retinal artery peak blood-flow speed was 13.5% lower in diabetic patients.
Study
379 +/- 156 microm
lower thickness in the central retina, checked with an eye scan
Case Report
9 of 10 eyes
eyes had better measured vision after treatment