Introduction Optic nerve hypoplasia is a congenital condition marked by the presence of small optic discs in one or both eyes. Vision ranges from nearly normal to profoundly reduced. Reports of genetic and gestational risk factors exist, among others. Sometimes optic nerve hypoplasia occurs alongside midline brain abnormalities and/or hypopituitarism. When this occurs, it historically has been referred to as septo-optic dysplasia. Case Report A patient aged 52 years presented with a history of primary open-angle glaucoma in the left eye, presumably secondary to childhood ocular trauma according to the previous provider’s record. Pupil testing showed a left eye afferent pupillary defect. Intraocular pressures measured 19 mm Hg in both eyes, and anterior segment findings were unremarkable. Posterior segment findings included left optic nerve hypoplasia with temporal pallor. Optical coherence tomography of the left eye confirmed a hypoplastic nasal retinal nerve fiber layer along with temporal thinning. Incidental magnetic resonance imaging performed for a chronic headache disorder revealed an absent septum pellucidum, a pituitary gland without hypoplasia, and a smaller left optic nerve compared with the right. The patient’s ocular and radiological findings appeared consistent with septo-optic dysplasia. Conclusion Because hypopituitarism and other neurological findings can occur in optic disc hypoplasia, making the correct diagnosis can lead to prompt intervention and appropriate testing when found in children. Along with reduced vision, nystagmus and strabismus may be present. Practitioners should also be aware of the potential for seizures, behavioral problems, developmental delays, and autism spectrum disorders.
J Williamson (Fri,) studied this question.