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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
Summary
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.
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