Eyes on the Brain: Neuro-ophthalmic Manifestations of Ogden Syndrome (P5-11.026)
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.
Authors
- Gholson J. Lyon (ORCID: https://orcid.org/0000-0002-5869-0716)
- Rikhil Makwana
- Matthew T. Whitehead (ORCID: https://orcid.org/0000-0001-5077-693X)
- Andrea Lynne Gropman (ORCID: https://orcid.org/0000-0002-2106-6776)
- Agnes Park (ORCID: https://orcid.org/0009-0002-3387-0830)
- Rahi Patel (ORCID: https://orcid.org/0000-0001-8687-1197)
Institutions
- Children's Hospital of Philadelphia (US)
- Children's National (US)
- New York State Office for People With Developmental Disabilities (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000208703
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00