Agenesis of retinal vessels in a newborn with central nervous system developmental abnormality

A full-term infant with neonatal seizures was diagnosed to have corpus callosum agenesis with congenital agyria. His indirect ophthalmoscopical evaluation revealed bilateral complete absence of retinal vessels with normal optic discs and macula. Bilateral lamellar cataracts developed in the second month of follow-up, and his muscle biopsy was consistent with a mitochondrial disorder. Confirmation by molecular analysis could not be performed since parents did not give their consent for further investigation.