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Abnormal electroretinogram associated with developmental brain anomalies

G W Cibis1, K M Fitzgerald

  • 1Children's Mercy Hospital Department of Surgery, University of Missouri-Kansas City School of Medicine.

Transactions of the American Ophthalmological Society
|January 1, 1995
PubMed
Summary
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Abnormal electroretinograms (ERGs) are linked to developmental brain and retinal anomalies. These findings suggest a unifying concept of Brain Retina Neuroembryodysgenesis (BRNED), potentially caused by early embryonic disruptions.

Area of Science:

  • Neuro-ophthalmology
  • Developmental neuroscience
  • Clinical electrophysiology

Background:

  • Optic nerve hypoplasia, colobomata, and developmental brain anomalies are rare conditions.
  • Electroretinograms (ERGs) assess retinal function.

Observation:

  • Six cases presented with abnormal ERGs alongside optic nerve hypoplasia, colobomata, and various brain malformations.
  • Brain anomalies included cortical dysgenesis, lissencephaly, porencephaly, and cerebellar/corpus callosum hypoplasia.

Findings:

  • Scotopic and photopic ERGs revealed reduced b-wave amplitudes and delayed implicit times.
  • Photopic responses showed reduced a- and b-wave amplitudes with implicit time delays.
  • Long-duration photopic ERG demonstrated attenuated ON- and OFF-responses.

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Implications:

  • These diverse abnormalities may stem from common early embryonic insults affecting neuronal development.
  • The term Brain Retina Neuroembryodysgenesis (BRNED) is proposed to unify these conditions.
  • Homeobox and PAX genes are potential candidates for these developmental disruptions, with ERGs aiding classification.