Validation of a Deep Learning Model for Diabetic Retinopathy on Patients with Young-Onset Diabetes

While many deep learning systems (DLSs) for diabetic retinopathy (DR) have been developed and validated on cohorts with an average age of 50s or older, fewer studies have examined younger individuals. This study aimed to understand DLS performance for younger individuals, who tend to display anatomic differences, such as prominent retinal sheen. This sheen can be mistaken for exudates or cotton wool spots, and potentially confound DLSs.

This was a prospective cross-sectional cohort study in a "Diabetes of young" clinic in India, enrolling 321 individuals between ages 18 and 45 (98.8% with type 1 diabetes). Participants had fundus photographs taken and the photos were adjudicated by experienced graders to obtain reference DR grades. We defined a younger cohort (age 18-25) and an older cohort (age 26-45) and examined differences in DLS performance between the two cohorts. The main outcome measures were sensitivity and specificity for DR.

Eye-level sensitivity for moderate-or-worse DR was 97.6% [95% confidence interval (CI) 91.2, 98.2] for the younger cohort and 94.0% [88.8, 98.1] for the older cohort (p = 0.418 for difference). The specificity for moderate-or-worse DR significantly differed between the younger and older cohorts, 97.9% [95.9, 99.3] and 92.1% [87.6, 96.0], respectively (p = 0.008). Similar trends were observed for diabetic macular edema (DME); sensitivity was 79.0% [57.9, 93.6] for the younger cohort and 77.5% [60.8, 90.6] for the older cohort (p = 0.893), whereas specificity was 97.0% [94.5, 99.0] and 92.0% [88.2, 95.5] (p = 0.018). Retinal sheen presence (94% of images) was associated with DME presence (p < 0.0001). Image review suggested that sheen presence confounded reference DME status, increasing noise in the labels and depressing measured sensitivity. The gradability rate for both DR and DME was near-perfect (99% for both).

DLS-based DR screening performed well in younger individuals aged 18-25, with comparable sensitivity and higher specificity compared to individuals aged 26-45. Sheen presence in this cohort made identification of DME difficult for graders and depressed measured DLS sensitivity; additional studies incorporating optical coherence tomography may improve accuracy of measuring DLS DME sensitivity.