Fundus diseases are prevalent causes of visual impairment and blindness worldwide, particularly in regions with limited access to ophthalmologists for timely diagnosis. Current approaches to fundus disease diagnosis heavily rely on expert-annotated data and AI-assisted image analysis, offering advantages, such as improved accuracy and accessibility. However, the dependency on annotated data poses a significant challenge, especially in regions with limited resources. To address this challenge, we propose a label-free general framework based on self-supervised machine learning. We performed feature distillation on a large number of unlabeled fundus images and employed a linear classifier for the detection of different fundus diseases. In validation experiments on the public and external validation fundus data sets, our model surpassed existing supervised approaches, achieving a remarkable increase in the area under the curve (AUC) of 15.7%, and even outperformed individual human experts. Our approach offers a promising solution to the limitations of current diagnostic methods, enhancing the potential for early and accurate detection of fundus diseases in resource-constrained settings.

Anomaly detection is an important task for medical image analysis, which can alleviate the reliance of supervised methods on large labelled datasets. Most existing methods use a pixel-wise self-reconstruction framework for anomaly detection. However, there are two challenges of these studies: 1) they tend to overfit learning an identity mapping between the input and output, which leads to failure in detecting abnormal samples; 2) the reconstruction considers the pixel-wise differences which may lead to an undesirable result. To mitigate the above problems, we propose a novel heterogeneous Auto-Encoder (Hetero-AE) for medical anomaly detection. Our model utilizes a convolutional neural network (CNN) as the encoder and a hybrid CNN-Transformer network as the decoder. The heterogeneous structure enables the model to learn the intrinsic information of normal data and enlarge the difference on abnormal samples. To fully exploit the effectiveness of Transformer in the hybrid network, a multi-scale sparse Transformer block is proposed to trade off modelling long-range feature dependencies and high computational costs. Moreover, the multi-stage feature comparison is introduced to reduce the noise of pixel-wise comparison. Extensive experiments on four public datasets (i.e., retinal OCT, chest X-ray, brain MRI, and COVID-19) verify the effectiveness of our method on different imaging modalities for anomaly detection. Additionally, our method can accurately detect tumors in brain MRI and lesions in retinal OCT with interpretable heatmaps to locate lesion areas, assisting clinicians in diagnosing abnormalities efficiently.

Large AI models, or foundation models, are models recently emerging with massive scales both parameter-wise and data-wise, the magnitudes of which can reach beyond billions. Once pretrained, large AI models demonstrate impressive performance in various downstream tasks. A prime example is ChatGPT, whose capability has compelled people's imagination about the far-reaching influence that large AI models can have and their potential to transform different domains of our lives. In health informatics, the advent of large AI models has brought new paradigms for the design of methodologies. The scale of multi-modal data in the biomedical and health domain has been ever-expanding especially since the community embraced the era of deep learning, which provides the ground to develop, validate, and advance large AI models for breakthroughs in health-related areas. This article presents a comprehensive review of large AI models, from background to their applications. We identify seven key sectors in which large AI models are applicable and might have substantial influence, including: 1) bioinformatics; 2) medical diagnosis; 3) medical imaging; 4) medical informatics; 5) medical education; 6) public health; and 7) medical robotics. We examine their challenges, followed by a critical discussion about potential future directions and pitfalls of large AI models in transforming the field of health informatics.

Diabetic retinopathy (DR) is a leading cause of permanent blindness among the working-age people. Automatic DR grading can help ophthalmologists make timely treatment for patients. However, the existing grading methods are usually trained with high resolution (HR) fundus images, such that the grading performance decreases a lot given low resolution (LR) images, which are common in clinic. In this paper, we mainly focus on DR grading with LR fundus images. According to our analysis on the DR task, we find that: 1) image super-resolution (ISR) can boost the performance of both DR grading and lesion segmentation; 2) the lesion segmentation regions of fundus images are highly consistent with pathological regions for DR grading. Based on our findings, we propose a convolutional neural network (CNN)-based method for joint learning of multi-level tasks for DR grading, called DeepMT-DR, which can simultaneously handle the low-level task of ISR, the mid-level task of lesion segmentation and the high-level task of disease severity classification on LR fundus images. Moreover, a novel task-aware loss is developed to encourage ISR to focus on the pathological regions for its subsequent tasks: lesion segmentation and DR grading. Extensive experimental results show that our DeepMT-DR method significantly outperforms other state-of-the-art methods for DR grading over three datasets. In addition, our method achieves comparable performance in two auxiliary tasks of ISR and lesion segmentation.

Glaucoma is one of the leading causes of irreversible vision loss. Many approaches have recently been proposed for automatic glaucoma detection based on fundus images. However, none of the existing approaches can efficiently remove high redundancy in fundus images for glaucoma detection, which may reduce the reliability and accuracy of glaucoma detection. To avoid this disadvantage, this paper proposes an attention-based convolutional neural network (CNN) for glaucoma detection, called AG-CNN. Specifically, we first establish a large-scale attention-based glaucoma (LAG) database, which includes 11 760 fundus images labeled as either positive glaucoma (4878) or negative glaucoma (6882). Among the 11 760 fundus images, the attention maps of 5824 images are further obtained from ophthalmologists through a simulated eye-tracking experiment. Then, a new structure of AG-CNN is designed, including an attention prediction subnet, a pathological area localization subnet, and a glaucoma classification subnet. The attention maps are predicted in the attention prediction subnet to highlight the salient regions for glaucoma detection, under a weakly supervised training manner. In contrast to other attention-based CNN methods, the features are also visualized as the localized pathological area, which are further added in our AG-CNN structure to enhance the glaucoma detection performance. Finally, the experiment results from testing over our LAG database and another public glaucoma database show that the proposed AG-CNN approach significantly advances the state-of-the-art in glaucoma detection.