Automatic detection of rare pathologies in fundus photographs using few-shot learning
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Abstract (arXiv)
In the last decades, large datasets of fundus photographs have been collected in diabetic retinopathy (DR) screening networks. Through deep learning, these datasets were used to train automatic detectors for DR and a few other frequent pathologies, with the goal to automate screening. One challenge limits the adoption of such systems so far: automatic detectors ignore rare conditions that ophthalmologists currently detect, such as papilledema or anterior ischemic optic neuropathy. The reason is that standard deep learning requires too many examples of these conditions. However, this limitation can be addressed with few-shot learning, a machine learning paradigm where a classifier has to generalize to a new category not seen in training, given only a few examples of this category. This paper presents a new few-shot learning framework that extends convolutional neural networks (CNNs), trained for frequent conditions, with an unsupervised probabilistic model for rare condition detection. It is based on the observation that CNNs often perceive photographs containing the same anomalies as similar, even though these CNNs were trained to detect unrelated conditions. This observation was based on the t-SNE visualization tool, which we decided to incorporate in our probabilistic model. Experiments on a dataset of 164,660 screening examinations from the OPHDIAT screening network show that 37 conditions, out of 41, can be detected with an area under the ROC curve (AUC) greater than 0.8 (average AUC: 0.938). In particular, this framework significantly outperforms other frameworks for detecting rare conditions, including multitask learning, transfer learning and Siamese networks, another few-shot learning solution. We expect these richer predictions to trigger the adoption of automated eye pathology screening, which will revolutionize clinical practice in ophthalmology.
Key facts. Cited by 20 papers in the map (data through 14 Oct 2026). First posted on arXiv 22 Jul 2019.
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Citing papers per year: 2021: 8; 2022: 4; 2023: 1; 2024: 3; 2025: 3; 2026: 1.
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- 2022Transformers in Medical Imaging: A Surveycited by 245
- 2021Explainable artificial intelligence (XAI) in deep learning-based medical image analysiscited by 147
- 2021Applications of Deep Learning in Fundus Images: A Reviewcited by 59
- 2021Balanced-MixUp for Highly Imbalanced Medical Image Classificationcited by 46
- 2022Long-Tailed Classification of Thorax Diseases on Chest X-Ray: A New Benchmark Studycited by 45
- 2021A Systematic Collection of Medical Image Datasets for Deep Learningcited by 29
- 2021Relational Subsets Knowledge Distillation for Long-tailed Retinal Diseases Recognitioncited by 27
- 2024Enhancing Diagnostic Accuracy in Rare and Common Fundus Diseases with a Knowledge-Rich Vision-Language Modelcited by 12
- 2021A Comparative Review of Recent Few-Shot Object Detection Algorithmscited by 10
- 2021Hierarchical Knowledge Guided Learning for Real-world Retinal Diseases Recognitioncited by 10
- 2023Few Shot Learning for Medical Imaging: A Comparative Analysis of Methodologies and Formal Mathematical Frameworkcited by 9
- 2024A Systematic Review of Generalization Research in Medical Image Classificationcited by 8
8 more
- 2024Multi-Label Continual Learning for the Medical Domain: A Novel Benchmarkcited by 6
- 2021Multi-Disease Detection in Retinal Imaging based on Ensembling Heterogeneous Deep Learning Modelscited by 5
- 2025Interpretable Few-Shot Retinal Disease Diagnosis with Concept-Guided Prompting of Vision-Language Modelscited by 4
- 2022Few-Shot Transfer Learning to improve Chest X-Ray pathology detection using limited tripletscited by 1
- 2022ReViSe: Remote Vital Signs Measurement Using Smartphone Cameracited by 1
- 2025DyMorph-B2I: Dynamic and Morphology-Guided Binary-to-Instance Segmentation for Renal Pathologycited by 1
- 2025Beyond Traditional Diagnostics: Transforming Patient-Side Information into Predictive Insights with Knowledge Graphs and Prototypescited by 0
- 2026Benchmarking Convolutional, Transformer, Hybrid, and Vision Language Models for Multi Disease Retinal Screeningcited by 0
- 2026Benchmarking Convolutional, Transformer, Hybrid, and Vision Language Models for Multi Disease Retinal Screening25 May 2026
- 2025Beyond Traditional Diagnostics: Transforming Patient-Side Information into Predictive Insights with Knowledge Graphs and Prototypes9 Dec 2025
- 2025DyMorph-B2I: Dynamic and Morphology-Guided Binary-to-Instance Segmentation for Renal Pathology21 Aug 2025
- 2025Interpretable Few-Shot Retinal Disease Diagnosis with Concept-Guided Prompting of Vision-Language Models4 Mar 2025
- 2024Enhancing Diagnostic Accuracy in Rare and Common Fundus Diseases with a Knowledge-Rich Vision-Language Model13 Jun 2024
- 2024Multi-Label Continual Learning for the Medical Domain: A Novel Benchmark10 Apr 2024
- 2024A Systematic Review of Generalization Research in Medical Image Classification18 Mar 2024
- 2023Few Shot Learning for Medical Imaging: A Comparative Analysis of Methodologies and Formal Mathematical Framework8 May 2023
- 2022Long-Tailed Classification of Thorax Diseases on Chest X-Ray: A New Benchmark Study29 Aug 2022
- 2022ReViSe: Remote Vital Signs Measurement Using Smartphone Camera13 Jun 2022
- 2022Few-Shot Transfer Learning to improve Chest X-Ray pathology detection using limited triplets16 Apr 2022
- 2022Transformers in Medical Imaging: A Survey24 Jan 2022
8 more
- 2021Hierarchical Knowledge Guided Learning for Real-world Retinal Diseases Recognition17 Nov 2021
- 2021A Comparative Review of Recent Few-Shot Object Detection Algorithms30 Oct 2021
- 2021Balanced-MixUp for Highly Imbalanced Medical Image Classification20 Sep 2021
- 2021Explainable artificial intelligence (XAI) in deep learning-based medical image analysis22 Jul 2021
- 2021A Systematic Collection of Medical Image Datasets for Deep Learning24 Jun 2021
- 2021Relational Subsets Knowledge Distillation for Long-tailed Retinal Diseases Recognition22 Apr 2021
- 2021Multi-Disease Detection in Retinal Imaging based on Ensembling Heterogeneous Deep Learning Models26 Mar 2021
- 2021Applications of Deep Learning in Fundus Images: A Review25 Jan 2021
- 2024Enhancing Diagnostic Accuracy in Rare and Common Fundus Diseases with a Knowledge-Rich Vision-Language Modelcited by 12
- 2025Interpretable Few-Shot Retinal Disease Diagnosis with Concept-Guided Prompting of Vision-Language Modelscited by 4
- 2026Benchmarking Convolutional, Transformer, Hybrid, and Vision Language Models for Multi Disease Retinal Screeningcited by 0
- 2026Benchmarking Convolutional, Transformer, Hybrid, and Vision Language Models for Multi Disease Retinal Screening25 May 2026
- 2025Interpretable Few-Shot Retinal Disease Diagnosis with Concept-Guided Prompting of Vision-Language Models4 Mar 2025
- 2024Enhancing Diagnostic Accuracy in Rare and Common Fundus Diseases with a Knowledge-Rich Vision-Language Model13 Jun 2024
- 2022Transformers in Medical Imaging: A Surveycited by 245
- 2021Explainable artificial intelligence (XAI) in deep learning-based medical image analysiscited by 147
- 2021Applications of Deep Learning in Fundus Images: A Reviewcited by 59
- 2021Balanced-MixUp for Highly Imbalanced Medical Image Classificationcited by 46
- 2022Long-Tailed Classification of Thorax Diseases on Chest X-Ray: A New Benchmark Studycited by 45
- 2021A Systematic Collection of Medical Image Datasets for Deep Learningcited by 29
- 2021A Comparative Review of Recent Few-Shot Object Detection Algorithmscited by 10
- 2021Hierarchical Knowledge Guided Learning for Real-world Retinal Diseases Recognitioncited by 10
- 2023Few Shot Learning for Medical Imaging: A Comparative Analysis of Methodologies and Formal Mathematical Frameworkcited by 9
- 2024A Systematic Review of Generalization Research in Medical Image Classificationcited by 8
- 2024Multi-Label Continual Learning for the Medical Domain: A Novel Benchmarkcited by 6
- 2021Multi-Disease Detection in Retinal Imaging based on Ensembling Heterogeneous Deep Learning Modelscited by 5
12 most cited of 16 All 16 (JSON)
- 2025Beyond Traditional Diagnostics: Transforming Patient-Side Information into Predictive Insights with Knowledge Graphs and Prototypes9 Dec 2025
- 2025DyMorph-B2I: Dynamic and Morphology-Guided Binary-to-Instance Segmentation for Renal Pathology21 Aug 2025
- 2024Multi-Label Continual Learning for the Medical Domain: A Novel Benchmark10 Apr 2024
- 2024A Systematic Review of Generalization Research in Medical Image Classification18 Mar 2024
- 2023Few Shot Learning for Medical Imaging: A Comparative Analysis of Methodologies and Formal Mathematical Framework8 May 2023
- 2022Long-Tailed Classification of Thorax Diseases on Chest X-Ray: A New Benchmark Study29 Aug 2022
- 2022ReViSe: Remote Vital Signs Measurement Using Smartphone Camera13 Jun 2022
- 2022Few-Shot Transfer Learning to improve Chest X-Ray pathology detection using limited triplets16 Apr 2022
- 2022Transformers in Medical Imaging: A Survey24 Jan 2022
- 2021Hierarchical Knowledge Guided Learning for Real-world Retinal Diseases Recognition17 Nov 2021
- 2021A Comparative Review of Recent Few-Shot Object Detection Algorithms30 Oct 2021
- 2021Balanced-MixUp for Highly Imbalanced Medical Image Classification20 Sep 2021
12 newest of 16 All 16 (JSON)