Ocular findings in pediatric patients with partial agenesis of corpus callosum.

PURPOSE: To evaluate the ocular associations with corpus callosum agenesis.

METHODS

All children who had corpus callosum agenesis diagnosed by computed tomography or magnetic resonance imaging scans during a 10-year period were included in the study. A complete ophthalmological assessment was undertaken. Data were collected for age, sex, neurological findings, visual acuity, refractive errors, ocular motility defects, and ocular abnormalities. There were no children with Aicardi syndrome in the study.

RESULTS

Nineteen children with corpus callosum agenesis were identified, of whom 13 were examined. All had partial agenesis of the corpus callosum. Visual acuity was better than 20/60 in 5 children (38%), between 20/60 and 20/200 in 3 children (23%), and less than 20/200 in 5 children (38%). Refractive errors were present in 8 children (62%), strabismus in 6 children (46%), nystagmus in 2 children (15%), hypoplastic discs in 3 children (23%), and microphthalmos in 1 child (8%).

CONCLUSION

Non-syndromic corpus callosum agenesis may be associated with several ocular defects. Poor visual acuity, refractive errors, and strabismus predominate and need to be appropriately addressed to optimize visual function in these children. Global developmental delay (62%) and epilepsy (46%) were the most common neurological associations in this series.