Optic Nerve Hypoplasia and Megalopapilla

Abstract

Children with optic nerve hypoplasia may have multiple endocrine and central nervous system problems. The discs in these patients have fewer nerve fibers than normal, and there is a deficiency of the retinal ganglion cells. There have been reports of anencephaly and hydranencephaly. De Morsier syndrome has also been described in patients with optic nerve hypoplasia. De Morsier syndrome patients have an absence of the septum pellucidum, partial or complete agenesis of the corpus callosum, pituitary dysfunction, and dysplasia of the third ventricle. Apert syndrome and Meckel syndrome are two other conditions in which optic nerve hypoplasia may coexist. There may be an association with maternal ingestion of quinine, phenytoin, lysergic acid diethylamide (LSD), meperidine, and diuretics as well. It can also be seen in children of diabetic mothers.