Neuroradiological features of patients with optic nerve hypoplasia

Optic nerve hypoplasia (ONH) is associated with a wide range of neurological and endocrine disorders. A series of 21 patients is reported. This comprised 17 with ONH in association with manifest neurological and endocrine disturbance, 3 who were blind but who were otherwise normal, and 1 with bilateral impaired visual acuity only. All patients underwent neuroradiological and detailed ophthalmic assessment. A wide range of abnormalities was observed. The most common findings were absent septum pellucidum, hydrocephaly, and porencephaly. Evidence of hypothalamic/pituitary hormone deficiency was present in nine patients, six of whom had demonstrable intracranial radiological abnormalities. All patients except one had bilateral optic nerve hypoplasia. Most patients had poor visual acuities and nystagmus. Astigmatism was also common. Two conditions which have not previously been reported in association with optic nerve hypoplasia were found: an intracranial arachnoid cyst and an intracranial epidermoid cyst.