Table 2

Detailed training and test results based on fundus autofluorescence images for predicting the causative genes in inherited retinal disorder

Original classification with genetic diagnosisLearning resultsPredicted results
Training images (n)Testing images (n)Total ABCA4 images (n) EYS images (n) RP1L1 images (n)Normal images (n)Sensitivity
(%)
Specificity
(%)
Accuracy
(%)
Trial 1
ABCA4 27103710100100
EYS 2510357370100
RP1L1 331043737097
Normal3112431119280
Total1164215810781783
Trial 2
ABCA4 2710379190100
EYS 27835810097
RP1L1 311243937597
Normal3211431109190
Total1174115899101388
Trial 3
ABCA4 28937910091
EYS 2510353770100
RP1L1 3211436555100
Normal3211431110083
Total1174115812761681
Trial 4
ABCA4 29837810089
EYS 2873533143100
RP1L1 331043646092
Normal34943188984
Total1243415811381274
  • In total, 82 subjects with molecularly confirmed inherited retinal disorders or no ocular diseases were ascertained: 19 with ABCA4 retinopathy, 18 with EYS retinopathy, 22 with RP1L1 retinopathy and 23 normal subjects. Subjects were randomly split following a 3: 1 ratio into training and test sets.

  • The commercially available deep learning tool, MedicMind, was applied to this four-class classification program.

  • The accuracy for each trial and the sensitivity and specificity for each category of each trial were calculated during the learning process, and this procedure was repeated four times with randomly assigned training/test sets to control for selection bias.