Ocular phenotypes associated with autism and atypical neurodevelopment: Insights from electronic health records

Atypical visual perception is often described in autism spectrum disorder (ASD); however, few studies have characterized ocular conditions in ASD using basic vision metrics such as those collected in routine eye exams. The current study uses electronic health record (EHR) codes to establish ocular phenotypes across individuals with and without neurodevelopmental diagnoses, including ASD. Using a population health approach, we assessed ocular conditions (identified based on medical codes from the EHR) in N = 7518 pediatric patients across 4 groups: n = 1196 with ASD, n = 156 with Intellectual Disability (ID), n = 347 with Language Disorder (LD), and n = 5819 matched controls (MC). We grouped and summarized ocular conditions across 5 ocular classes, including: (1) Visual impairment; (2) Refractive error, Accommodative & Vergence disorders; (3) Eye movements, Strabismus & Oculomotor Disorders; (4) Retinal disorders & Ocular disease; (5) Photosensitivity & Atypical Pupil response. We find an increased rate of ocular conditions in diagnostic groups compared to matched controls across classes 1 and 3. This study highlights the use of EHR data to curate ocular condition metrics collected in clinical care. The characterization of ocular anomalies across categories using EHR data offers a scalable method to improve our understanding of vision phenotypes that may be present in children with ASD and other neurodevelopmental differences.