Neural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study.

Background/

Objectives

Keratoconus (KC) can rapidly erode vision in children with Leber congenital amaurosis (LCA), yet screening usually depends on costly corneal imaging that is often unavailable. We evaluated whether a lightweight, image-free neural network fed only routine clinical and genetic variables can detect KC in patients with AIPL1-related LCA.

Methods

This retrospective, proof-of-concept pilot study analyzed chart data for 19 children with biallelic AIPL1 mutations (6 with KC) seen at five tertiary eye centers between January and December 2004. Ten baseline predictors were entered into a feed-forward neural network. Records were randomly split 60/20/20 into training, validation and test sets; 20 replicate networks were trained. The mean test accuracy, sensitivity and specificity across runs were the primary outcomes.

Results

The ensemble achieved a mean test accuracy of 91.6% (SD 12.8%), sensitivity of 87.5% (SD 13.1%) and specificity of 93.5% (SD 17.0%). A total of 6 of the 20 runs made no test-set errors, and 16 achieved 100% specificity. The median training time per network was less than 1 s on a laptop CPU.

Conclusions

This exploratory pilot shows that a point-of-care, image-free neural network using readily available clinical and genetic data accurately identified KC in AIPL1-LCA. External validation in larger, contemporary cohorts is warranted, but the approach could help triage scarce imaging resources and enable timely corneal-collagen cross-linking in settings where tomography is inaccessible.