Enhancing Diagnostic Reliability of Foundation Model with Uncertainty Estimation in OCT Images

Inability to express the confidence level and detect unseen classes has limited the clinical implementation of artificial intelligence in the real-world. We developed a foundation model with uncertainty estimation (FMUE) to detect 11 retinal conditions on optical coherence tomography (OCT). In the internal test set, FMUE achieved a higher F1 score of 96.76% than two state-of-the-art algorithms, RETFound and UIOS, and got further improvement with thresholding strategy to 98.44%. In the external test sets obtained from other OCT devices, FMUE achieved an accuracy of 88.75% and 92.73% before and after thresholding. Our model is superior to two ophthalmologists with a higher F1 score (95.17% vs. 61.93% &71.72%). Besides, our model correctly predicts high uncertainty scores for samples with ambiguous features, of non-target-category diseases, or with low-quality to prompt manual checks and prevent misdiagnosis. FMUE provides a trustworthy method for automatic retinal anomalies detection in the real-world clinical open set environment.

Common and Rare Fundus Diseases Identification Using Vision-Language Foundation Model with Knowledge of Over 400 Diseases

The current retinal artificial intelligence models were trained using data with a limited category of diseases and limited knowledge. In this paper, we present a retinal vision-language foundation model (RetiZero) with knowledge of over 400 fundus diseases. Specifically, we collected 341,896 fundus images paired with text descriptions from 29 publicly available datasets, 180 ophthalmic books, and online resources, encompassing over 400 fundus diseases across multiple countries and ethnicities. RetiZero achieved outstanding performance across various downstream tasks, including zero-shot retinal disease recognition, image-to-image retrieval, internal domain and cross-domain retinal disease classification, and few-shot fine-tuning. Specially, in the zero-shot scenario, RetiZero achieved a Top5 score of 0.8430 and 0.7561 on 15 and 52 fundus diseases respectively. In the image-retrieval task, RetiZero achieved a Top5 score of 0.9500 and 0.8860 on 15 and 52 retinal diseases respectively. Furthermore, clinical evaluations by ophthalmology experts from different countries demonstrate that RetiZero can achieve performance comparable to experienced ophthalmologists using zero-shot and image retrieval methods without requiring model retraining. These capabilities of retinal disease identification strengthen our RetiZero foundation model in clinical implementation.

Uncertainty-inspired Open Set Learning for Retinal Anomaly Identification

Failure to recognize samples from the classes unseen during training is a major limit of artificial intelligence (AI) in real-world implementation of retinal anomaly classification. To resolve this obstacle, we propose an uncertainty-inspired open-set (UIOS) model which was trained with fundus images of 9 common retinal conditions. Besides the probability of each category, UIOS also calculates an uncertainty score to express its confidence. Our UIOS model with thresholding strategy achieved an F1 score of 99.55%, 97.01% and 91.91% for the internal testing set, external testing set and non-typical testing set, respectively, compared to the F1 score of 92.20%, 80.69% and 64.74% by the standard AI model. Furthermore, UIOS correctly predicted high uncertainty scores, which prompted the need for a manual check, in the datasets of rare retinal diseases, low-quality fundus images, and non-fundus images. This work provides a robust method for real-world screening of retinal anomalies.