OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning

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 opti...

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Main Authors: Md Mahmudul Hasan, Jack Phu, Henrietta Wang, Arcot Sowmya, Michael Kalloniatis, Erik Meijering
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
Subjects:
Online Access:https://doi.org/10.1038/s41598-025-87219-w
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author Md Mahmudul Hasan
Jack Phu
Henrietta Wang
Arcot Sowmya
Michael Kalloniatis
Erik Meijering
author_facet Md Mahmudul Hasan
Jack Phu
Henrietta Wang
Arcot Sowmya
Michael Kalloniatis
Erik Meijering
author_sort Md Mahmudul Hasan
collection DOAJ
description 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.
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spelling doaj-art-2b323a63bbf4431cb2cfab6119a62a592025-02-02T12:22:02ZengNature PortfolioScientific Reports2045-23222025-01-0115112010.1038/s41598-025-87219-wOCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learningMd Mahmudul Hasan0Jack Phu1Henrietta Wang2Arcot Sowmya3Michael Kalloniatis4Erik Meijering5School of Computer Science and Engineering, University of New South WalesSchool of Optometry and Vision Science, University of New South WalesSchool of Optometry and Vision Science, University of New South WalesSchool of Computer Science and Engineering, University of New South WalesSchool of Optometry and Vision Science, University of New South WalesSchool of Computer Science and Engineering, University of New South WalesAbstract 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.https://doi.org/10.1038/s41598-025-87219-wOptical coherence tomographyGlaucomaPerimetryExplainable machine learningSHAP analysisPartial dependency analysis
spellingShingle Md Mahmudul Hasan
Jack Phu
Henrietta Wang
Arcot Sowmya
Michael Kalloniatis
Erik Meijering
OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning
Scientific Reports
Optical coherence tomography
Glaucoma
Perimetry
Explainable machine learning
SHAP analysis
Partial dependency analysis
title OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning
title_full OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning
title_fullStr OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning
title_full_unstemmed OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning
title_short OCT-based diagnosis of glaucoma and glaucoma stages using explainable machine learning
title_sort oct based diagnosis of glaucoma and glaucoma stages using explainable machine learning
topic Optical coherence tomography
Glaucoma
Perimetry
Explainable machine learning
SHAP analysis
Partial dependency analysis
url https://doi.org/10.1038/s41598-025-87219-w
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AT henriettawang octbaseddiagnosisofglaucomaandglaucomastagesusingexplainablemachinelearning
AT arcotsowmya octbaseddiagnosisofglaucomaandglaucomastagesusingexplainablemachinelearning
AT michaelkalloniatis octbaseddiagnosisofglaucomaandglaucomastagesusingexplainablemachinelearning
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