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Fundus image analysis of retinitis pigmentosa using artificial intelligence
Saki Ubukata1, Kanato Masayoshi1, Yusaku Katada1,2
1Laboratory of Photobiology, Keio University School of Medicine, Tokyo, Japan.
Plos One
|July 24, 2026
Summary
Deep learning models can now detect retinitis pigmentosa (RP) from fundus images with high accuracy. This AI tool shows promise for early RP diagnosis, aiding ophthalmologists in screening.
Area of Science:
- Ophthalmology
- Artificial Intelligence
- Medical Imaging
Background:
- Retinitis pigmentosa (RP) is an inherited retinal disease causing progressive vision loss.
- Early diagnosis of RP is crucial for management but often delayed due to subtle early symptoms.
- Color fundus images, common in checkups, are underutilized for RP detection.
Purpose of the Study:
- To evaluate the efficacy of finetuning deep learning models for identifying retinitis pigmentosa (RP) from color fundus images.
- To assess the diagnostic performance of pretrained convolutional neural network (CNN) models adapted for RP detection.
- To explore the interpretability of deep learning models in identifying key fundus regions relevant to RP.
Main Methods:
- Transfer learning was employed to finetune pretrained CNN models (VGG16, Resnet50, InceptionV3).
- A dataset of 321 color fundus images from 201 Japanese subjects (107 RP patients, 94 controls) was utilized.
- Gradient-weighted Class Activation Mapping (Grad-CAM) was used to visualize model attention.
Main Results:
- The InceptionV3 model achieved the highest diagnostic accuracy of 96.97% for RP detection.
- Model performance closely matched the average diagnostic accuracy of ophthalmologists.
- Grad-CAM analysis indicated the model focused on clinically relevant retinal areas, suggesting interpretability.
Conclusions:
- Finetuned deep learning models demonstrate high accuracy in detecting retinitis pigmentosa from fundus images.
- AI-powered tools can potentially serve as supportive systems for ophthalmologists in early RP screening.
- The interpretability of the models supports their clinical utility in identifying disease-specific features.