Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data

Clinical Snapshot

Key Findings

• P Value: Not reported

• Effect Size: 95% accuracy for IRD detection using multimodal imaging

• Primary Outcome: Binary IRD vs non-IRD classification accuracy

• Nnt Or Sensitivity: Sensitivity and specificity not reported; precision 0.92 ± 0.01 for IRD detection

• Confidence Interval: Accuracy 0.95 ± 0.01 (SD)

Clinical Application

Requires wide-field FAF and pseudocolor fundus imaging capabilities and deep learning infrastructure Could complement RACGP guidelines for retinal disease referral; potential PBS implications for genetic testing prioritisation if validated in Australian populations Patients presenting with suspected inherited retinal diseases requiring diagnostic workup

Abstract

OBJECTIVE: To evaluate a novel image-based deep learning method for the automated identification of inherited retinal diseases (IRDs) and to explore the feasibility of predicting selected causative gene groups using a multimodal analysis of wide-field fundus autofluorescence (FAF) and pseudocolor fundus (pCF) images. DESIGN: The method was evaluated using a retrospective dataset of patient studies containing FAF and pCF images, as well as genetic tests for IRD. PARTICIPANTS: Patients with confirmed IRD for which both wide-field FAF and pCF images and genetic tests for IRD performed at Hadassah University Medical Center were included. The dataset consisted of 409 patients (330 patients with IRD with the 25 most commonly affected genes in our population and patients without IRD, and 79 patients without IRD). METHODS: Nine EfficientNet-V2-m convolutional neural networks were trained for the following three classification tasks: a binary IRD vs. non-IRD classification, and classification into two groups of five causative genes (Groups 1 and 2). For each task, three models were trained on the FAF images only, the pCF images only, and both the FAF and pCF images. The performance of the models was then evaluated and compared using 5-fold cross-validation. MAIN OUTCOME MEASURES: Accuracy, precision, F1 scores, AUC, and confusion matrices. RESULTS: The multimodal classification models that were trained on both the FAF and pCF images yielded the best results. The binary classification model had a mean (±SD) accuracy of 0.95 ± 0.01, a mean precision of 0.92 ± 0.01, and a mean F1 score of 0.90 ± 0.02. The Group 1 classification model had a mean accuracy of 0.92 ± 0.03, a mean precision of 0.93 ± 0.03, and a mean F1 score of 0.89 ± 0.03. Finally, the Group 2 classification model had a mean accuracy of 0.85 ± 0.03, a mean precision of 0.87 ± 0.04, and a mean F1 score of 0.83 ± 0.04. CONCLUSIONS: Our results indicate that determining whether a patient has IRD can be performed with high accuracy within this retrospective cohort based on FAF and pCF images using image-based deep learning classifiers. This image-based approach may assist clinicians during the patient's initial visit by providing decision support prior to genetic testing. It may also help prioritize patients for genetic workup, particularly in settings in which genetic testing is not readily available. Further prospective and external validation is required before clinical implementation.

References

1. 1.Joskowicz, L., Buchbinder, T., Chodorov, E., Hoogi, A., Matos, K., Rivera, A., Sharon, D., Banin, E., & Levy, J. (2026). Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data. PLoS One. https://doi.org/10.1371/journal.pone.0348866