Visual loss in the Miller-Dieker Syndrome

A 16 month old female is reported with Miller-Dieker syndrome of lissencephaly and chromosome 17p deletion. The patient was evaluated because of poor vision. Electroretinographic studies were suggestive of retinal dysfunction and visual evoked potentials indicated visual tract or cortical damage. This is the first patient with this syndrome to undergo detailed retinal and electrophysiologic evaluation. The embryology of the retina is reviewed and potential pathogenetic mechanisms are discussed. Visual loss in the Miller-Dieker syndrome seems to be due to a combination of retinal and central nervous system abnormalities