Retinitis Pigmentosa Classification with Deep Learning and Integrated Gradients Analysis

Inherited retinal diseases (IRDs) are genetic disorders affecting photoreceptors and the retinal pigment epithelium, leading to progressive vision loss. Retinitis pigmentosa (RP), the most common IRD, manifests as night blindness, peripheral vision loss, and eventually central vision decline. RP is genetically diverse and can be categorized into non-syndromic and syndromic. Advanced imaging technologies such as fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) facilitate diagnosing and managing these conditions. The integration of artificial intelligence in analyzing retinal images has shown promise in identifying genes associated with RP. This study used a dataset from Portuguese public hospitals, comprising 2798 FAF images labeled for syndromic and non-syndromic RP across 66 genes. Three pre-trained models, Inception-v3, ResNet-50, and VGG-19, were used to classify these images, obtaining an accuracy of over 80% in the training data and 54%, 56%, and 54% in the test data for all models. Data preprocessing included class balancing and boosting to address variability in gene representation. Model performance was evaluated using some main metrics. The findings demonstrate the effectiveness of deep learning in automatically classifying retinal images for different RP-associated genes, marking a significant advancement in the diagnostic capabilities of artificial intelligence and advanced imaging techniques in IRD.