OphMAE: Bridging Volumetric and Planar Imaging with a Foundation Model for Adaptive Ophthalmological Diagnosis
Authors: Tienyu Chang, Zhen Chen, Renjie Liang, Jinyu Ding, Jie Xu, Sunu Mathew, Amir Reza Hajrasouliha, Andrew J. Saykin, +4 more
Abstract
The advent of foundation models has heralded a new era in medical artificial intelligence (AI), enabling the extraction of generalizable representations from large-scale unlabeled datasets. However, current ophthalmic AI paradigms are predominantly constrained to single-modality inference, thereby creating a dissonance with clinical practice where diagnosis relies on the synthesis of complementary imaging modalities. Furthermore, the deployment of high-performance AI in resource-limited settings is frequently impeded by the unavailability of advanced three-dimensional imaging hardware. Here, we present the Ophthalmic multimodal Masked Autoencoder (OphMAE), a multi-imaging foundation model engineered to synergize the volumetric depth of 3D Optical Coherence Tomography (OCT) with the planar context of 2D en face OCT. By implementing a novel cross-modal fusion architecture and a unique adaptive inference mechanism, OphMAE was pre-trained on a massive dataset with of 183,875 paired OCT images derived from 32,765 patients. In a rigorous benchmark encompassing 17 diverse diagnostic tasks with 48,340 paired OCT images from 8,191 patients, the model demonstrated state-of-the-art performance, achieving an Area Under the Curve (AUC) of 96.9% for Age-related Macular Degeneration (AMD) and 97.2% for Diabetic Macular Edema (DME), consistently surpassing existing single-modal and multimodal foundation models. Crucially, OphMAE exhibits robust engineering adaptability: it maintains high diagnostic accuracy, such as 93.7% AUC for AMD, even when restricted to single-modality 2D inputs, and demonstrates exceptional data efficiency by retaining 95.7% AUC with as few as 500 labeled samples. This work establishes a scalable and adaptable framework for ophthalmic AI, ensuring robust performance across different tasks.
Color fundus photography (CFP) is the mainstay of large-scale retinal screening, but its diagnostic capacity is limited by the lack of depth-resolved structure, which optical coherence tomography (OCT) provides yet is less accessible at population scale. We present EyeMVP, a cross-modal retinal foundation model that uses paired CFP--OCT pretraining to learn OCT-informed CFP representations while requiring only CFP at inference. Pretrained on 674,893 same-eye same-day CFP--OCT triples from 112,642 patients across eight hospitals, EyeMVP uses cross-modal masked reconstruction to enrich CFP features with OCT-associated supervision, and combines source-constrained cross-attention with CFP-derived structural masks to accommodate the non-aligned geometry of en-face CFP and cross-sectional OCT. Across 15 dataset-level settings spanning classification and segmentation, under both full-data and few-shot regimes, EyeMVP performs on par with or better than representative retinal foundation models, with consistent gains on macular and optic-nerve tasks; it attains AUROCs of 0.923 for macular edema and 0.867 for myopic macular schisis, two conditions poorly resolved in CFP. In an exploratory reader study, EyeMVP surpasses junior and intermediate ophthalmologists but not seniors on macular edema, while exceeding all groups on myopic macular schisis. These results indicate that cross-modal reconstruction can enrich CFP representations with OCT-associated supervision, offering a practical route to stronger CFP-based screening.
Diabetic Macular Edema (DME) is a leading cause of vision loss among patients with Diabetic Retinopathy (DR). While deep learning has shown promising results for automatically detecting this condition from fundus images, its application remains challenging due the limited availability of annotated data. Foundation Models (FM) have emerged as an alternative solution. However, it is unclear if they can cope with DME detection in particular. In this paper, we systematically compare different FM and standard transfer learning approaches for this task. Specifically, we compare the two most popular FM for retinal images-RETFound and FLAIR-and an EfficientNetB0 backbone, across different training regimes and evaluation settings in IDRiD, MESSIDOR-2 and OCT-and-Eye-FundusImages (OEFI). Results show that despite their scale, FM do not consistently outperform fine-tuned CNNs in this task. In particular, EfficientNet-B0 consistently achieves competitive or superior performance across evaluation settings, with FLAIR being the most competitive foundation model, consistently outperforming RETFound. These findings suggest that FMs do not necessarily provide an advantage for fine-grained ophthalmic tasks such as DME detection, even after fine-tuning, highlighting lightweight CNNs as strong baselines in data-scarce environments.
Artificial intelligence (AI) shows remarkable potential in medical imaging diagnostics, yet most current models require retraining when applied across different clinical settings, limiting their scalability. We developed GlobeReady, a deployment-oriented platform powered by the RetiGlobe foun- dation model and local feature augmentation. RetiGlobe was pretrained in two stages: 1) self-supervised learning using DINOv2 on 38 million synthetic ophthalmic images, and 2) contrastive learning using CLIP on 475,845 real image-text pairs spanning diverse ethnicities, imaging devices, and geographic regions worldwide. We evaluate GlobeReady on 488,448 ophthalmic images, including color fundus photographs (CFPs) and optical coherence tomography scans, from multi-centres in China, Singapore, Vietnam and the UK. Prospective testing included usability assessment with 31 ophthalmologists. Exploratory analyses evaluated domain generalisability, Bayesian uncertainty quantification, out-of-distribution (OOD) detection, and feature-based case retrieval.