Congenital optic nerve pit in trisomy 18.

Victor M. Villegas, Jonathan S. Chang, Ditte J. Hess, Audina Berrocal

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The authors report the first case of trisomy 18 associated with a clinically detectable optic nerve pit. A female infant with a birth weight of 2,150 g was born by cesarean section to a healthy 40-year-old woman at 38 weeks of gestation. Trisomy 18 had been diagnosed by prenatal genetic testing. Ophthalmologic examination was remarkable for bilateral narrowed palpebral fissures with punctal agenesis, corectopic pupils without reaction to light, bilateral inferior peripapillary retinochoroidal hypopigmentation, and significant optic nerve cupping in the left eye with associated temporal optic nerve pit. It has generally been accepted that optic nerve pits are a congenital anomaly. However, the pathophysiological background of optic nerve pits remains unclear and controversial. This is the first clinical and photographic documentation of an optic nerve pit in a neonate and in Edwards syndrome.

Original languageEnglish
JournalJournal of Pediatric Ophthalmology and Strabismus
Volume50 Online
StatePublished - Oct 3 2013
Externally publishedYes

Fingerprint

Optic Nerve
Hypopigmentation
Genetic Testing
Eyelids
Pupil
Birth Weight
Cesarean Section
Documentation
Trisomy 18
Newborn Infant
Light
Pregnancy

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health

Cite this

Congenital optic nerve pit in trisomy 18. / Villegas, Victor M.; Chang, Jonathan S.; Hess, Ditte J.; Berrocal, Audina.

In: Journal of Pediatric Ophthalmology and Strabismus, Vol. 50 Online, 03.10.2013.

Research output: Contribution to journalArticle

Villegas, Victor M. ; Chang, Jonathan S. ; Hess, Ditte J. ; Berrocal, Audina. / Congenital optic nerve pit in trisomy 18. In: Journal of Pediatric Ophthalmology and Strabismus. 2013 ; Vol. 50 Online.
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