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Ophthalmic Findings Associated with NEDD4L-related Disorder
Christopher Santilli1, Anjali Aggarwal2, Christina Dailey3
1Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis.
Summary
Pathogenic variants in the NEDD4L gene cause a rare neurodevelopmental disorder. This study highlights foveal hypoplasia as a novel ophthalmic finding in affected individuals.
Area of Science:
- Genetics
- Neurodevelopmental disorders
- Ophthalmology
Background:
- Pathogenic variants in the NEDD4L gene are linked to a rare neurodevelopmental disorder.
- This disorder presents with periventricular nodular heterotopia, developmental delay, syndactyly, and cleft palate.
- Ophthalmic manifestations of this condition are not well-documented.
Observation:
- This study reviews previously reported clinical findings.
- A novel case presenting with foveal hypoplasia is described.
- Foveal hypoplasia is a significant ophthalmic observation in this disorder.
Findings:
- NEDD4L variants are associated with a spectrum of neurodevelopmental and physical anomalies.
- Foveal hypoplasia represents a previously unreported ophthalmic finding in NEDD4L-related disorder.
- The study consolidates existing knowledge and introduces new ophthalmic data.
Implications:
- Expanding the understanding of NEDD4L-related disorder phenotypes.
- Highlighting the importance of comprehensive ophthalmic evaluations in affected individuals.
- Potentially guiding future diagnostic and therapeutic strategies for rare neurodevelopmental conditions.
