A 14-year-old boy was brought to the eye clinic because of unexplained vision loss. For many years, he had lagged behind his peers in his school work. He received a diagnosis of attention deficit disorder and was treated with methylphenidate. Two years ago, a concussion occurred in a football game, followed by chronic headache. Amitriptyline was prescribed, and he was banned from all physical exertion including running. He was also being treated with levothyroxine, somatropin, and hydrocortisone for chronic pituitary insufficiency of unknown cause.
On examination, the visual acuity was 20/40 in each eye with a refraction of plano in the right eye and −1.00 sphere in the left eye. The pupils were normal. He was too distractible to perform automated perimetry. There was a prominent gray optic pit at the temporal edge of each optic disc (Fig. 1). A subtle gap in the nerve fiber layer extending from each optic pit to the fovea was visible in each macula with an ophthalmoscope. There were peripapillary pigment rings, a finding often associated with optic nerve pits (1).
Optical coherence tomography (Optovue Avanti RTVUE XR, Fremont, CA) confirmed the presence of optic disc pits, with no subretinal fluid in the maculae. Analysis of the ganglion cell complex (nerve fiber layer, ganglion cell layer, and inner plexiform layer) revealed a distinct trough running from the optic pits to the fovea in each eye (Fig. 2). These defects in the ganglion cell complex were approximately 400 μm wide and 70 μm deep. The patient fixated eccentrically, presumably because the population of ganglion cells serving the fovea in each eye was reduced by the optic pits.
Brain magnetic resonance imaging showed a slightly diminutive optic chiasm and corpus callosum (Fig. 3A). The most striking finding was the ectopic location of the posterior lobe of the pituitary gland, just beneath the optic chiasm. There was a shortened infundibulum, and the anterior lobe was not visible. The septum pellucidum was preserved. A coronal image through the orbits showed small optic nerves (Fig. 3B).
Brodsky and Glasier (2) have described a variety of central nervous system abnormalities in association with optic nerve hypoplasia. In their report, 6 of 40 patients had absence of the pituitary infundibulum and posterior pituitary ectopia, with resulting hypopituitarism. The term “optoinfundibular hypoplasia” has been proposed for this variant of septo-optic dysplasia, although in fact, the septum pellucidum may be preserved (3).
The finding of bilateral optic nerve pits in a patient with posterior pituitary ectopia is unique. Our patient had no evidence of a serous maculopathy, but loss of foveal ganglion cells due to optic pits caused a reduction in acuity, bringing him to our attention. Optic nerve pits rarely are associated with central nervous system findings (4,5). It is possible that the pits and posterior pituitary ectopia in this child were unrelated, and occurred merely as a coincidence. Alternatively, their occurrence in the same individual could signify a real but rare association, adding to the remarkably diverse range of structural developmental anomalies encountered in patients with pituitary dysgenesis.
1. Slusher MM, Weaver RG Jr, Greven CM, Mundorf TK, Cashwell LF. The spectrum of cavitary optic disc anomalies in a family. Ophthalmology. 1989;96:342–347.
2. Brodsky MC, Glasier CM. Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophthalmol. 1993;111:66–74.
3. Kaufman LM, Miller MT, Mafee MF. Magnetic resonance imaging of pituitary stalk hypoplasia. A discrete midline anomaly associated with endocrine abnormalities in septo-optic dysplasia. Arch Ophthalmol. 1989;107:1485–1489.
4. Heidary G. Congenital optic nerve anomalies and hereditary optic neuropathies. J Pediatr Genet. 2014;3:271–280.
5. Golnik KC. Cavitary anomalies of the optic disc: neurologic significance. Curr Neurol Neurosci Rep. 2008;8:409–413.