Ocular manifestations in autism spectrum disorder

Abstract

Autism spectrum disorder (ASD) represents a neurodevelopmental disorder that has been the focus of numerous studies on the central nervous system (CNS). The embryological origin of the brain and retina is shared, with the axons of retinal ganglion cells (RGC) developing into the optic nerves that enter the brain through the dorsal lateral geniculate nucleus (LGN) of the thalamus, LGN, and other visual cortices. Given the evidence that individuals with ASD exhibit impairments in the visual mechanisms, including deficits in emotional face recognition, and difficulty in maintaining gaze control as well as eye contact, some studies have documented retinal alterations in individuals with ASD. These have been identified through ophthalmic assessments, including optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and electroretinography (ERG). With the improvements in ASD animal models, it is possible to obtain a better understanding of vision dysfunction in ASD by analyzing the molecular mechanisms of retinal function and structure abnormalities. This review aims to provide a summary of the recent research on ocular alterations in ASD patients and animal models, intending to contribute to further investigation of the eye-brain connection and communication.

Keywords: autism spectrum disorder; optical coherence tomography; retina; retinofugal.