Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

Figure 2

Test results of deep learning in 4 representative cases with original diagnosis of ABCA4, RP1L1, EYS, and Normal. A data-driven deep learning approach to predicting the gene causing the inherited retinal disorders in macular dystrophy caused by ABCA4 and RP1L1 in comparison with retinitis pigmentosa caused by EYS and normal subjects was performed with Medic Mind (URL: https://www.medicmind.tech/). The mean overall test accuracy was 90.9% (82.0–97.6). The test accuracy per gene category was 100% for ABCA4, 78.0% (66.7–87.5) for RP1L1, 89.8% (82.4–100) for EYS, and 93.4% (73.7–100) for Normal. AI = artificial intelligence.