NAA10-related neurodevelopmental syndrome (Ogden Syndrome, OS) and NAA15-related neurodevelopmental syndrome present with intellectual disability, hypotonia, cardiac abnormalities, seizures, and developmental delays. The neuro-ophthalmic manifestations of NAA10 and NAA15 variants, particularly cortical visual impairment (CVI), remain poorly understood. This study aims to characterize these manifestations.

CVI is the leading cause of pediatric visual impairment in western countries, causing aberrant visual responses unrelated to eye abnormalities. Functional challenges include difficulty with depth perception, face recognition, and contrast discernment, impacting learning and interaction. Up to 10.5% of children with developmental disabilities may have undiagnosed CVI.

We analyzed the prevalence of CVI and depth perception difficulties in 67 patients with NAA10 variants and 19 patients with NAA15 variants. Medical histories were collected through interviews, verified by records, and analyzed for neuro-ophthalmic findings.

Our data suggest CVI is underdiagnosed, particularly in NAA15 patients. Trouble with depth perception was prevalent in both NAA10 (19.2%) and NAA15 (44.4%) cohorts, even without confirmed CVI diagnoses. CVI was confirmed in 22.4% of NAA10 and 5.26% of NAA15 patients, indicating that milder phenotypes in NAA15 individuals may lead to less testing.

CVI is common in OS and NAA15-related neurodevelopmental disorders but often underdiagnosed, particularly in NAA15 patients. Early examination by a neuro-ophthalmologist can guide care, ensure timely intervention, and improve understanding of visual processing in these conditions.