Optic Nerve Hypoplasia: An Infant with Poor Fixation and Pituitary Dysfunction

Abstract

A 5-month-old girl was born full term via C-section for fetal distress and had a prolonged neonatal ICU stay for hypernatremia and hyperbilirubinemia. She was diagnosed with persistent diabetes insipidus. At 5 months of age, ophthalmologic consultation was requested by endocrinology to evaluate the patient for optic nerve hypoplasia. Neuro-ophthalmologic examination showed that the patient had poor fixation, but pursued a 6″ toy at 1 foot and had equally reactive pupils. Her refractive error was −1.00 + 1.75 × 90 right eye and −0.25 + 1.50 × 90 left eye. Ocular motility examination showed full ductions, nystagmus, and an esotropia of 45^Δ. The funduscopic exam revealed bilateral optic nerve hypoplasia (ONH). MRI of the brain was normal except for an absent neurohypophysis. She developed adrenal insufficiency and growth hormone deficiency. All young children with ONH need to be monitored for pituitary insufficiency, even when MRI findings may be normal.