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Congenital Optic Nerve Pit in Trisomy 18

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

  • Journal of Pediatric Ophthalmology and Strabismus
  • Volume 50 · E24-E26
  • Posted June 4, 2013
  • DOI: 10.3928/01913913-20130528-02

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. [J Pediatr Ophthalmol Strabismus 2013;50:e24–e26.]

From Bascom Palmer Eye Institute, Jackson Memorial Hospital, University of Miami Miller School of Medicine, Miami, Florida.

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Audina M. Berrocal, MD, 900 NW17th Street, Miami, FL 33136. E-mail: aberrocal@med.miami.edu

Received: December 28, 2012
Accepted: April 10, 2013
Posted Online: June 04, 2013

10.3928/01913913-20130528-02

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. [J Pediatr Ophthalmol Strabismus 2013;50:e24–e26.]

From Bascom Palmer Eye Institute, Jackson Memorial Hospital, University of Miami Miller School of Medicine, Miami, Florida.

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Audina M. Berrocal, MD, 900 NW17th Street, Miami, FL 33136. E-mail: aberrocal@med.miami.edu

Received: December 28, 2012
Accepted: April 10, 2013
Posted Online: June 04, 2013
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