Prenatal or Perinatal Injury? Diagnosing the Cortically Blind Infant

Am J Ophthalmol. 2020 Mar:211:56-62. doi: 10.1016/j.ajo.2019.10.026. Epub 2019 Nov 5.

Abstract

Purpose: To document the association of prenatal brain disruption with secondary perinatal distress in children diagnosed as having cortical visual impairment (CVI).

Design: Retrospective case series.

Methods: Eight children with severe CVI and clinical history of perinatal events were included. Case histories and neuroimaging studies were reviewed. The main outcome measures were perinatal history, visual and neurologic findings, and magnetic resonance (MR) imaging.

Results: In our patient cohort, MR imaging showed signs of cortical dysgenesis leading to congenital brain malformations such as polymicrogyria consistent with a prenatal timing of CNS injury. Although subcortical white matter changes were common, signs of watershed injury to the visual cortex were absent, suggesting that the visual loss was attributable to a prenatal etiology with secondary birth complications.

Conclusion: Some children with CVI and a history of perinatal distress have prenatal dysgenesis of the developing brain. Therefore, a clinical history of perinatal hypoxia-ischemia is nonspecific and merits neuroimaging to identify antecedent brain malformations and timing of injury, which can influence patient diagnosis and management.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blindness, Cortical / diagnosis*
  • Blindness, Cortical / physiopathology
  • Brain Injuries / diagnostic imaging*
  • Brain Injuries / physiopathology
  • Child, Preschool
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / physiopathology
  • Gestational Age
  • Humans
  • Hypoxia-Ischemia, Brain / diagnosis*
  • Hypoxia-Ischemia, Brain / physiopathology
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Malformations of Cortical Development / diagnostic imaging*
  • Malformations of Cortical Development / physiopathology
  • Retrospective Studies
  • Vision Disorders / diagnosis
  • Vision Disorders / physiopathology
  • Visual Acuity / physiology