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April 30, 2026Nature Medicine8 citationsOpen Access

AI framework for multidisease detection via retinal imaging

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XZXi ZhangQLQinyi LiYLYinhao Liang

Key Points

  • This research aims to develop a multitask retinal imaging framework for efficient detection of multiple diseases.
  • Developed Reti-Pioneer framework using 107,730 color fundus photographs from various cohorts.
  • Evaluated the framework on internal and external test data, measuring area under the receiver operating characteristic curve.
  • Conducted a primary care silent trial to assess screening speed and efficiency.
  • Achieved AUC values of 0.833 for type 2 diabetes mellitus, 0.832 for gout, and lower values for other diseases.
  • Demonstrated screening completion in about 30.6 seconds per case, faster than standard methods.
  • Showed high acceptance from clinicians and patients during clinical piloting.

Abstract

The rising burden of endocrine and metabolic diseases demands scalable and accessible screening tools. Here we developed Reti-Pioneer, a multitask retinal imaging framework that integrates quality-aware modules with pre-trained foundation models for efficient, multidisease detection. In general, the framework was developed using 107,730 color fundus photographs from both community-based and hospital-based cohorts and achieved area under the receiver operating characteristic curve values on internal test data of 0.833 (95% confidence interval 0.810–0.856) for type 2 diabetes mellitus, 0.832 (0.799–0.866) for gout, 0.787 (0.742–0.833) for osteoporosis, 0.740 (0.726–0.755) for hypertension, 0.736 (0.721–0.751) for hyperlipidemia and 0.699 (0.667–0.730) for thyroid disease. The framework generalized well to six external cohorts from both resource-limited and high-resource settings, and showed biological interpretability via plasma proteomic correlations. In a primary care silent trial, it completed screening in 30.6 ± 6.0 s per case, notably faster than standard laboratory workflows. A subsequent clinical pilot for type 2 diabetes mellitus yielded an area under the receiver operating characteristic curve of 0.776 (0.710–0.842) and negative predictive value of 0.966 (0.946–0.983), surpassing the Finnish Diabetes Risk Score, with high acceptance from clinicians and patients. Overall, Reti-Pioneer could provide a translatable, low-cost pathway from oculomics to actionable clinical screening. Reti-Pioneer, a retinal imaging artificial intelligence framework, identified diverse systemic diseases and demonstrated feasibility in a primary care silent trial, offering a pathway toward scalable clinical evaluation.

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Cite This Study

Zhang et al. (2026) studied this question.

synapsesocial.com/papers/69f2a4b78c0f03fd67763cbdhttps://doi.org/10.1038/s41591-026-04359-w
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