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Enhancing diagnostic accuracy in rare and common fundus diseases with a knowledge-rich vision-language model

Author

Listed:
  • Meng Wang

    (National University of Singapore
    National University of Singapore)

  • Tian Lin

    (Shantou University and the Chinese University of Hong Kong)

  • Aidi Lin

    (Shantou University and the Chinese University of Hong Kong)

  • Kai Yu

    (University of Pennsylvania)

  • Yuanyuan Peng

    (Anhui Medical University)

  • Lianyu Wang

    (Nanjing University of Aeronautics and Astronautics)

  • Cheng Chen

    (Department of Electrical and Electronic Engineering, The University of Hong Kong)

  • Ke Zou

    (Sichuan University)

  • Huiyu Liang

    (Shantou University and the Chinese University of Hong Kong)

  • Man Chen

    (Shantou University and the Chinese University of Hong Kong)

  • Xue Yao

    (Shantou University and the Chinese University of Hong Kong)

  • Meiqin Zhang

    (Shantou University and the Chinese University of Hong Kong)

  • Binwei Huang

    (Shantou University and the Chinese University of Hong Kong)

  • Chaoxin Zheng

    (Shantou University and the Chinese University of Hong Kong)

  • Peixin Zhang

    (Shantou University and the Chinese University of Hong Kong)

  • Wei Chen

    (Shantou University and the Chinese University of Hong Kong)

  • Yilong Luo

    (Shantou University and the Chinese University of Hong Kong)

  • Yifan Chen

    (Shantou University and the Chinese University of Hong Kong)

  • Honghe Xia

    (Shantou University and the Chinese University of Hong Kong)

  • Tingkun Shi

    (Shantou University and the Chinese University of Hong Kong)

  • Qi Zhang

    (Shantou University and the Chinese University of Hong Kong)

  • Jinming Guo

    (Shantou University and the Chinese University of Hong Kong)

  • Xiaolin Chen

    (Shantou University and the Chinese University of Hong Kong)

  • Jingcheng Wang

    (Big Vision Medical Technology Ltd.)

  • Yih Chung Tham

    (National University of Singapore
    National University of Singapore)

  • Dianbo Liu

    (National University of Singapore
    National University of Singapore)

  • Wendy Wong

    (National University of Singapore
    National University of Singapore)

  • Sahil Thakur

    (Singapore National Eye Centre)

  • Beau J. Fenner

    (Singapore National Eye Centre
    Duke-NUS Medical School)

  • Danqi Fang

    (The Chinese University of Hong Kong)

  • Siying Liu

    (Shenzhen Longgang E.N.T Hospital)

  • Qingyun Liu

    (Shenzhen Longgang E.N.T Hospital)

  • Yuqiang Huang

    (Shantou University and the Chinese University of Hong Kong)

  • Hongqiang Zeng

    (Dongguan Songshan Lake Central Hospital)

  • Yanda Meng

    (University of Exeter)

  • Yukun Zhou

    (University College London
    NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust
    University College London)

  • Zehua Jiang

    (Tsinghua Medicine of Tsinghua University
    Beijing Tsinghua Changgung Hospital)

  • Minghui Qiu

    (Foshan Aier Zhuoyue Eye Hospital)

  • Changqing Zhang

    (Tianjin University)

  • Xinjian Chen

    (Soochow University
    Soochow University)

  • Sophia Y. Wang

    (Stanford University School of Medicine)

  • Cecilia S. Lee

    (University of Washington
    Roger H. and Angie Karalis Johnson Retina Center)

  • Lucia Sobrin

    (Harvard Medical School)

  • Carol Y. Cheung

    (The Chinese University of Hong Kong)

  • Chi Pui Pang

    (Shantou University and the Chinese University of Hong Kong
    The Chinese University of Hong Kong)

  • Pearse A. Keane

    (NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust
    University College London)

  • Ching-Yu Cheng

    (National University of Singapore
    National University of Singapore
    Singapore National Eye Centre
    Duke-NUS Medical School)

  • Haoyu Chen

    (Shantou University and the Chinese University of Hong Kong)

  • Huazhu Fu

    (Technology and Research (A*STAR))

Abstract

Previous foundation models for fundus images were pre-trained with limited disease categories and knowledge base. Here we introduce RetiZero, a vision-language model that incorporates knowledge from over 400 fundus diseases. The model is pre-trained on 341,896 fundus images with accompanying text descriptions gathered from diverse sources across multiple ethnicities and countries. RetiZero demonstrates exceptional performance across various downstream tasks including zero-shot disease recognition, image-to-image retrieval, clinical diagnosis assistance, few-shot fine-tuning, and cross-domain disease identification. In zero-shot scenarios, it achieves Top-5 accuracies of 0.843 for 15 diseases and 0.756 for 52 diseases, while for image-to-image retrieval, it scores 0.950 and 0.886 respectively. Notably, RetiZero’s Top-3 zero-shot performance exceeds the average diagnostic accuracy of 19 ophthalmologists from Singapore, China, and the United States. The model particularly enhances clinicians’ ability to diagnose rare fundus conditions, highlighting its potential value for integration into clinical settings where diverse eye diseases are encountered.

Suggested Citation

  • Meng Wang & Tian Lin & Aidi Lin & Kai Yu & Yuanyuan Peng & Lianyu Wang & Cheng Chen & Ke Zou & Huiyu Liang & Man Chen & Xue Yao & Meiqin Zhang & Binwei Huang & Chaoxin Zheng & Peixin Zhang & Wei Chen , 2025. "Enhancing diagnostic accuracy in rare and common fundus diseases with a knowledge-rich vision-language model," Nature Communications, Nature, vol. 16(1), pages 1-17, December.
  • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-60577-9
    DOI: 10.1038/s41467-025-60577-9
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    References listed on IDEAS

    as
    1. Ling-Ping Cen & Jie Ji & Jian-Wei Lin & Si-Tong Ju & Hong-Jie Lin & Tai-Ping Li & Yun Wang & Jian-Feng Yang & Yu-Fen Liu & Shaoying Tan & Li Tan & Dongjie Li & Yifan Wang & Dezhi Zheng & Yongqun Xiong, 2021. "Automatic detection of 39 fundus diseases and conditions in retinal photographs using deep neural networks," Nature Communications, Nature, vol. 12(1), pages 1-13, December.
    2. Samiksha Pachade & Prasanna Porwal & Dhanshree Thulkar & Manesh Kokare & Girish Deshmukh & Vivek Sahasrabuddhe & Luca Giancardo & Gwenolé Quellec & Fabrice Mériaudeau, 2021. "Retinal Fundus Multi-Disease Image Dataset (RFMiD): A Dataset for Multi-Disease Detection Research," Data, MDPI, vol. 6(2), pages 1-14, February.
    3. Meng Wang & Tian Lin & Lianyu Wang & Aidi Lin & Ke Zou & Xinxing Xu & Yi Zhou & Yuanyuan Peng & Qingquan Meng & Yiming Qian & Guoyao Deng & Zhiqun Wu & Junhong Chen & Jianhong Lin & Mingzhi Zhang & We, 2023. "Uncertainty-inspired open set learning for retinal anomaly identification," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
    4. Yukun Zhou & Mark A. Chia & Siegfried K. Wagner & Murat S. Ayhan & Dominic J. Williamson & Robbert R. Struyven & Timing Liu & Moucheng Xu & Mateo G. Lozano & Peter Woodward-Court & Yuka Kihara & Andre, 2023. "A foundation model for generalizable disease detection from retinal images," Nature, Nature, vol. 622(7981), pages 156-163, October.
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