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Ophthalmic Findings Associated with NEDD4L-related Disorder.
- Source :
-
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2022 Jun; Vol. 26 (3), pp. 164-167. Date of Electronic Publication: 2022 May 13. - Publication Year :
- 2022
-
Abstract
- 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.<br /> (Copyright © 2022 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1528-3933
- Volume :
- 26
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
- Publication Type :
- Academic Journal
- Accession number :
- 35577021
- Full Text :
- https://doi.org/10.1016/j.jaapos.2022.02.012