Md Mahmudul Hasan, Jack Phu, Henrietta Wang, Arcot Sowmya, Michael Kalloniatis, Erik Meijering
{"title":"OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning.","authors":"Md Mahmudul Hasan, Jack Phu, Henrietta Wang, Arcot Sowmya, Michael Kalloniatis, Erik Meijering","doi":"10.1038/s41598-025-87219-w","DOIUrl":null,"url":null,"abstract":"<p><p>Glaucoma poses a growing health challenge projected to escalate in the coming decades. However, current automated diagnostic approaches on Glaucoma diagnosis solely rely on black-box deep learning models, lacking explainability and trustworthiness. To address the issue, this study uses optical coherence tomography (OCT) images to develop an explainable artificial intelligence (XAI) tool for diagnosing and staging glaucoma, with a focus on its clinical applicability. A total of 334 normal and 268 glaucomatous eyes (86 early, 72 moderate, 110 advanced) were included, signal processing theory was employed, and model interpretability was rigorously evaluated. Leveraging SHapley Additive exPlanations (SHAP)-based global feature ranking and partial dependency analysis (PDA) estimated decision boundary cut-offs on machine learning (ML) models, a novel algorithm was developed to implement an XAI tool. Using the selected features, ML models produce an AUC of 0.96 (95% CI: 0.95-0.98), 0.98 (95% CI: 0.96-1.00) and 1.00 (95% CI: 1.00-1.00) respectively on differentiating early, moderate and advanced glaucoma patients. Overall, machine outperformed clinicians in the early stage and overall glaucoma diagnosis with 10.4 -11.2% higher accuracy. The developed user-friendly XAI software tool shows potential as a valuable tool for eye care practitioners, offering transparent and interpretable insights to improve decision-making.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"3592"},"PeriodicalIF":3.8000,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Scientific Reports","FirstCategoryId":"103","ListUrlMain":"https://doi.org/10.1038/s41598-025-87219-w","RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MULTIDISCIPLINARY SCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
Glaucoma poses a growing health challenge projected to escalate in the coming decades. However, current automated diagnostic approaches on Glaucoma diagnosis solely rely on black-box deep learning models, lacking explainability and trustworthiness. To address the issue, this study uses optical coherence tomography (OCT) images to develop an explainable artificial intelligence (XAI) tool for diagnosing and staging glaucoma, with a focus on its clinical applicability. A total of 334 normal and 268 glaucomatous eyes (86 early, 72 moderate, 110 advanced) were included, signal processing theory was employed, and model interpretability was rigorously evaluated. Leveraging SHapley Additive exPlanations (SHAP)-based global feature ranking and partial dependency analysis (PDA) estimated decision boundary cut-offs on machine learning (ML) models, a novel algorithm was developed to implement an XAI tool. Using the selected features, ML models produce an AUC of 0.96 (95% CI: 0.95-0.98), 0.98 (95% CI: 0.96-1.00) and 1.00 (95% CI: 1.00-1.00) respectively on differentiating early, moderate and advanced glaucoma patients. Overall, machine outperformed clinicians in the early stage and overall glaucoma diagnosis with 10.4 -11.2% higher accuracy. The developed user-friendly XAI software tool shows potential as a valuable tool for eye care practitioners, offering transparent and interpretable insights to improve decision-making.
期刊介绍:
We publish original research from all areas of the natural sciences, psychology, medicine and engineering. You can learn more about what we publish by browsing our specific scientific subject areas below or explore Scientific Reports by browsing all articles and collections.
Scientific Reports has a 2-year impact factor: 4.380 (2021), and is the 6th most-cited journal in the world, with more than 540,000 citations in 2020 (Clarivate Analytics, 2021).
•Engineering
Engineering covers all aspects of engineering, technology, and applied science. It plays a crucial role in the development of technologies to address some of the world''s biggest challenges, helping to save lives and improve the way we live.
•Physical sciences
Physical sciences are those academic disciplines that aim to uncover the underlying laws of nature — often written in the language of mathematics. It is a collective term for areas of study including astronomy, chemistry, materials science and physics.
•Earth and environmental sciences
Earth and environmental sciences cover all aspects of Earth and planetary science and broadly encompass solid Earth processes, surface and atmospheric dynamics, Earth system history, climate and climate change, marine and freshwater systems, and ecology. It also considers the interactions between humans and these systems.
•Biological sciences
Biological sciences encompass all the divisions of natural sciences examining various aspects of vital processes. The concept includes anatomy, physiology, cell biology, biochemistry and biophysics, and covers all organisms from microorganisms, animals to plants.
•Health sciences
The health sciences study health, disease and healthcare. This field of study aims to develop knowledge, interventions and technology for use in healthcare to improve the treatment of patients.