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Updated: Jun 25, 2025

Author Spotlight: Insights into Visual Cortex Research Through Wide-View fMRI Mapping
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CAD-Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment

Sarah Thurman1, Callie Fischer2, Julie Guerin3

  • 1Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

Journal of Child Neurology
|May 22, 2024
PubMed

Insights

CAD-related disorder, a treatable condition, can cause severe cortical visual impairment by affecting visual cortex development. Early diagnosis and uridine monophosphate supplementation show promising results.

Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • CAD-related disorder (EIEE-50) is a genetic condition.
  • This study investigates its association with visual impairment.

Observation:

  • An infant presented with seizures, microcephaly, hypotonia, anemia, and severe cortical visual impairment.
  • Genetic sequencing identified two variants in the CAD gene.
  • Brain MRI revealed cortical malformations.

Findings:

  • CAD variants are linked to severe cortical visual impairment.
  • Uridine monophosphate supplementation improved seizures, hypotonia, development, and anemia.

Implications:

  • CAD-related disorder is a treatable cause of secondary cortical visual impairment.
  • This highlights a newly described clinical manifestation and therapeutic approach.
Abstract

Keywords:
epilepsyinborn errors of metabolismneuroophthalmologyneuroradiologyophthalmologyradiology

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