Ophthalmic Findings Associated with NEDD4L-related Disorder

Christopher Santilli, Anjali Aggarwal, Christina Dailey, Collin McClelland

Research output: Contribution to journalArticlepeer-review


Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in literature. We have summarized the clinical findings that have been reported in this disorder previously and highlight a novel ophthalmic finding of foveal hypoplasia in a new case of NEDD4L-related disorder.[Formula

Original languageEnglish (US)
Pages (from-to)164-167
Number of pages4
JournalJournal of AAPOS
Issue number3
StatePublished - Jun 2022

Bibliographical note

Publisher Copyright:
© 2022 American Association for Pediatric Ophthalmology and Strabismus

PubMed: MeSH publication types

  • Case Reports
  • Journal Article


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