Septo-optic dysplasia associated with congenital persistent fetal vasculature, retinal detachment, and gastroschisis.

PURPOSE: The purpose of this study was to report the association of septo-optic dysplasia, persistent fetal vasculature, retinal detachment, and gastroschisis in a preterm neonate.

METHODS

This is a case report.

RESULTS

A female preterm neonate was found to have septo-optic dysplasia, with optic nerve hypoplasia, tripartite splitting of the vessels at the optic nerve, an ectopic pituitary gland, and absence of the septum pellucidum associated with persistent fetal vasculature, a retinal detachment, and gastroschisis.

CONCLUSION

Septo-optic dysplasia may also be associated with other ophthalmic findings and other developmental malformations as the authors report in this case. Follow-up should consist of a multidisciplinary approach with radiologic and endocrinology consultation.