Value of electrodiagnostic assessment in nonsyndromic microcephaly.

PURPOSE To evaluate the value of electroretinogram (ERG) and visual evoked potentials (VEP) in children with nonsyndromic microcephaly. METHODS In this observational case series, six children with nonsyndromic microcephaly aged 8.5 to 158 months were examined. Main outcome measures included the amplitude of the flash ERG (photopic, flickering, scotopic, and dark-adapted responses), the amplitude and latency of the VEP (flash or pattern-reversal stimulus), visual acuity, slit-lamp biomicroscopy, and indirect ophthalmoscopy. RESULTS Three children demonstrated normal fundus appearances, ERG, and VEP responses: two in this group demonstrated poor vision and brain computed tomography in the third showed schizencephaly. The remaining three children demonstrated abnormal ERG with predominant reduction in photopic amplitudes. Retinal pigmentary granularities were detected in two children in this group, one of whom has poor vision, generalized brain atrophy, and 40% reduction in VEP amplitudes. CONCLUSIONS Abnormal ERG is not uncommon among children with nonsyndromic microcephaly. Although cone photoreceptors are affected more than rods, this does not anticipate poor vision. It appears that defects in posterior visual pathway or developmental malformations of the brain should be responsible for poor visual function in nonsyndromic microcephaly.