Ocular malformation involving tissue of neural-crest derivation.

A 5-month-old infant had an enlarged left eye removed for a possible intraocular malignancy. The eye had a thin cornea, a superior staphyloma, a completely cupped optic nerve head and no iris or lens. Histopathologic study showed little corneal or uveal stroma, small rudiments of ciliary body superiorly with no smooth muscle, pigment epithelium and nonpigmented neuroepithelium that lined the entire interior of the globe, focal superior retinal dysplasia and a focal superior scleral thickening containing a melanotic malformation. Except for the absence of the lens and the presence of neuroepithelium behind the cornea, all of the findings might be explained by a defect in ocular neural-crest tissue, either as a primary lesion of a portion of the cephalic neural crest (crest embryopathy) or secondary to a local mesodermal malformation.