Ophthalmic Findings Associated with NEDD4L-related Disorder

Christopher Santilli; Anjali Aggarwal; Christina Dailey; Collin McClelland

doi:10.1016/j.jaapos.2022.02.012

Ophthalmic Findings Associated with NEDD4L-related Disorder

Christopher Santilli, Anjali Aggarwal, Christina Dailey, Collin McClelland

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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.[Formula

Original language	English (US)
Pages (from-to)	164-167
Number of pages	4
Journal	Journal of AAPOS
Volume	26
Issue number	3
DOIs	https://doi.org/10.1016/j.jaapos.2022.02.012
State	Published - Jun 2022

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© 2022 American Association for Pediatric Ophthalmology and Strabismus

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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.[Formula",

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AU - Aggarwal, Anjali

AU - Dailey, Christina

AU - McClelland, Collin

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AB - 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

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Ophthalmic Findings Associated with NEDD4L-related Disorder

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