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Congenital optic nerve pit in trisomy 18.

Victor M Villegas, Jonathan S Chang, Ditte J Hess

    Journal of Pediatric Ophthalmology and Strabismus
    |March 8, 2014
    PubMed
    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 rare congenital anomalies of the optic nerve, with unclear etiology.
    • Previous literature lacks clinical and photographic documentation of optic nerve pits in neonates with trisomy 18.

    Observation:

    • A female infant diagnosed with trisomy 18 presented with various ophthalmologic findings.
    • Key ocular findings included narrowed palpebral fissures, punctal agenesis, corectopic pupils, and retinochoroidal hypopigmentation.
    • A significant finding was optic nerve cupping with an associated temporal optic nerve pit in the left eye.

    Findings:

    • This case represents the first documented instance of a clinically detectable optic nerve pit in a neonate with trisomy 18.

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  • The presence of an optic nerve pit in this context provides novel clinical data.
  • This documentation contributes photographic evidence of this rare association.

    • Implications:

    • This case highlights the importance of comprehensive ophthalmologic examinations in neonates with trisomy 18.
    • Further research may elucidate the pathophysiological link between trisomy 18 and optic nerve anomalies.
    • Understanding this association can aid in early diagnosis and management of ocular complications in affected infants.