A concept-based interpretable model for the diagnosis of choroid neoplasias using multimodal data.

Apr 14, 2025

Experts: Yifan Wu,Yang Liu,Yue Yang,Michael S Yao,Wenli Yang,Xuehui Shi,Lihong Yang,Dongjun Li,Yueming Liu,Shiyi Yin,Chunyan Lei,Meixia Zhang,James C Gee,Xuan Yang,Wenbin Wei,Shi Gu

Diagnosing rare diseases remains a critical challenge in clinical practice, often requiring specialist expertise. Despite the promising potential of machine learning, the scarcity of data on rare diseases and the need for interpretable, reliable artificial intelligence (AI) models complicates development. This study introduces a multimodal concept-based interpretable model tailored to distinguish uveal melanoma (0.4-0.6 per million in Asians) from hemangioma and metastatic carcinoma following the clinical practice. We collected a comprehensive dataset on Asians to date on choroid neoplasm imaging with radiological reports, encompassing over 750 patients from 2013 to 2019. Our model integrates domain expert insights from radiological reports and differentiates between three types of choroidal tumors, achieving an F score of 0.91. This performance not only matches senior ophthalmologists but also improves the diagnostic accuracy of less experienced clinicians by 42%. The results underscore the potential of interpretable AI to enhance rare disease diagnosis and pave the way for future advancements in medical AI.
© 2025. The Author(s).

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ABOUT THE EXPERTS

Yifan Wu,Yang Liu,Yue Yang,Michael S Yao,Wenli Yang,Xuehui Shi,Lihong Yang,Dongjun Li,Yueming Liu,Shiyi Yin,Chunyan Lei,Meixia Zhang,James C Gee,Xuan Yang,Wenbin Wei,Shi Gu

Yifan Wu

University of Pennsylvania, Philadelphia, PA, USA.

Yang Liu

University of Electronic Science and Technology of China, Chengdu, China.

Yue Yang

University of Pennsylvania, Philadelphia, PA, USA.

Michael S Yao

University of Pennsylvania, Philadelphia, PA, USA.

Wenli Yang

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Xuehui Shi

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Lihong Yang

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Dongjun Li

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Yueming Liu

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Shiyi Yin

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Chunyan Lei

Department of Ophthalmology and Research Laboratory of Macular Disease, West China Hospital, Sichuan University, Chengdu, China.

Meixia Zhang

Department of Ophthalmology and Research Laboratory of Macular Disease, West China Hospital, Sichuan University, Chengdu, China.

James C Gee

University of Pennsylvania, Philadelphia, PA, USA.

Xuan Yang

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China. yangxuan153@126.com.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China. yangxuan153@126.com.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China. yangxuan153@126.com.

Wenbin Wei

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China. weiwenbintr@163.com.

Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing, China. weiwenbintr@163.com.

Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China. weiwenbintr@163.com.

Shi Gu

University of Electronic Science and Technology of China, Chengdu, China. gus@uestc.edu.cn.

College of Computer Science and Technology, Zhejiang University, Hangzhou, China. gus@uestc.edu.cn.

State Key Laboratory of Brain Machine Intelligence, Zhejiang University, Hangzhou, China. gus@uestc.edu.cn.