Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders (NDD): Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes

Cortical visual impairment (CVI) is particularly relevant in children with neurodevelopmental disorders (NDDs) yet remains underdiagnosed. This study assessed the prevalence and severity of CVI in four neurogenetic conditions: STXBP1, SLC6A1, Ring 14, and 8p-related disorders. We also evaluated the CCSA-Clinician vision subdomain (CCSA-vision) as a diagnostic tool and examined the association between CVI and developmental outcomes. A retrospective chart review of 85 patients found CVI in 44%, most commonly in 8p (54%) and STXBP1 (50%); no cases were seen in SLC6A1. The CCSA-vision subdomain effectively distinguished CVI cases