Table 1: Summary of deep learning performance in prediction of causative genes in inherited retinal disorders.

Experiment 1.Training resultsTest 1.Test resultsTotal number of images included in this study
Number of imagesSensitivity (%)Specificity (%)Accuracy (%)Original category of genetic diagnosisAccuracy (%)
ABCA4RP1L1EYSNormalTotal

Original classification of genetic diagnosisABCA415100100Predicted category of genetic diagnosisABCA4415100ABCA419
RP1L12985.7100RP1L17787.5RP1L137
EYS4310095EYS1414100EYS57
Normal49100100Normal1616100Normal65
Total13696.9Total4814164297.6Total178

Experiment 2.Training resultsTest 2.Test resultsTotal number of images included in this study
Number of imagesSensitivity (%)Specificity (%)Accuracy (%)Original category of genetic diagnosisAccuracy (%)
ABCA4RP1L1EYSNormalTotal

Original classification of genetic diagnosisABCA413100100Predicted category of genetic diagnosisABCA46219100ABCA419
RP1L126100100RP1L19121282RP1L137
EYS43100100EYS1231585.7EYS57
Normal46100100Normal——141473.7Normal65
Total128100Total61114195082Total178

Experiment 3.Training resultsTest 3.Test resultsTotal number of images included in this study
Number of imagesSensitivity (%)Specificity (%)Accuracy (%)Original category of genetic diagnosisAccuracy (%)
ABCA4RP1L1EYSNormalTotal

Original classification of genetic diagnosisABCA41510096.6Predicted category of genetic diagnosisABCA4415100ABCA419
RP1L13166.7100RP1L14466.7RP1L137
EYS4590.990.5EYS2101290.9EYS57
Normal49100100Normal1616100Normal65
Total14090.6Total4611163791.9Total178

Experiment 4.Training resultsTest 4.Test resultsAccuracy (%)Total number of images included in this study
Number of imagesSensitivity (%)Specificity (%)Accuracy (%)Original category of genetic diagnosis
ABCA4RP1L1EYSNormalTotal

Original classification of genetic diagnosisABCA414100100Predicted category of genetic diagnosisABCA455100ABCA419
RP1L125100100RP1L11011176.9RP1L137
EYS40100100EYS141482.4EYS57
Normal51100100Normal221418100Normal65
Total130100Total51317144989.8Total178

In total, 75 subjects with molecularly confirmed inherited retinal disorders or no ocular diseases have been ascertained: 10 with ABCA4 retinopathy, 20 patients with RP1L1 retinopathy, 28 with EYS retinopathy, and 17 normal subjects. After preparation of spectral-domain optical coherence tomographic (SD-OCT) images for four gene categories, subjects were randomly split following a 3 : 1 ratio into training and test sets. The commercially available deep learning web tool, Medic Mind, was applied to this four-class classification problem. The classification accuracy, sensitivity, and specificity were calculated during the learning process, and the process was repeated four times with randomly assigned training/test sets to control for selection bias. For each training/testing process, the classification accuracy was calculated per gene category.