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Congenital optic nerve pit in trisomy 18.
Victor M Villegas1, Jonathan S Chang, Ditte J Hess
1Bascom Palmer Eye Institute, Jackson Memorial Hospital, University of Miami Miller School of Medicine, Miami, FL, USA.
Journal of Pediatric Ophthalmology and Strabismus
|June 7, 2013
Summary
This study documents the first case of an optic nerve pit in a neonate diagnosed with trisomy 18 (Edwards syndrome). This finding offers new insights into congenital anomalies associated with this genetic disorder.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Trisomy 18 (Edwards syndrome) is a severe genetic disorder associated with multiple congenital anomalies.
- Optic nerve pits are congenital anomalies of the optic nerve, but their exact cause and association with genetic syndromes are not fully understood.
Observation:
- A female infant with prenatally diagnosed trisomy 18 presented with various ocular abnormalities.
- Ophthalmologic examination revealed narrowed palpebral fissures, corectopic pupils, retinochoroidal hypopigmentation, and optic nerve cupping.
- A temporal optic nerve pit in the left eye was identified and is the focus of this report.
Findings:
- This case represents the first documented instance of an optic nerve pit in a neonate with trisomy 18.
- The presence of an optic nerve pit in this context provides novel clinical and photographic evidence.
Implications:
- This documentation contributes to understanding the spectrum of ocular manifestations in trisomy 18.
- Further research into the pathophysiology of optic nerve pits may be warranted, potentially linking them to specific genetic conditions.
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