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Related Experiment Video

Updated: May 13, 2026

Using Retinal Imaging to Study Dementia
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Using Retinal Imaging to Study Dementia

Published on: November 6, 2017

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

Leo Joskowicz1, Tim Buchbinder1, Eldan Chodorov1

  • 1School of Computer Science and Engineering, The Hebrew University of Jerusalem, Jerusalem, Israel.

Plos One
|May 11, 2026
PubMed
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A novel deep learning method accurately identifies inherited retinal diseases (IRDs) using fundus autofluorescence (FAF) and pseudocolor fundus (pCF) images. This AI approach aids in early diagnosis and gene group prediction, potentially guiding genetic testing.

Area of Science:

  • Ophthalmology
  • Medical Imaging
  • Artificial Intelligence

Background:

  • Inherited retinal diseases (IRDs) are a diverse group of genetic disorders affecting vision.
  • Accurate and timely diagnosis of IRDs is crucial for patient management and genetic counseling.
  • Current diagnostic methods often rely on genetic testing, which can be time-consuming and costly.

Purpose of the Study:

  • To evaluate a novel deep learning (DL) method for automated IRD identification using multimodal fundus imaging.
  • To assess the feasibility of predicting causative gene groups based on fundus autofluorescence (FAF) and pseudocolor fundus (pCF) images.
  • To explore the potential of DL in providing decision support for clinicians prior to genetic testing.

Main Methods:

  • A retrospective dataset of 409 patients with and without IRD was analyzed.

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  • Wide-field FAF and pCF images, along with genetic test results, were utilized.
  • Nine EfficientNet-V2-m convolutional neural networks were trained for binary IRD classification and classification into two causative gene groups.
  • Main Results:

    • Multimodal DL models using both FAF and pCF images achieved the highest performance.
    • The binary IRD vs. non-IRD classification model demonstrated a mean accuracy of 0.95 ± 0.01.
    • Gene group classification models achieved mean accuracies of 0.92 ± 0.03 (Group 1) and 0.85 ± 0.03 (Group 2).

    Conclusions:

    • Image-based deep learning classifiers can accurately identify IRD from FAF and pCF images.
    • This AI approach offers potential decision support for clinicians during initial patient visits.
    • Further prospective validation is necessary before widespread clinical implementation.