Optic Nerve Hypoplasia

Key Findings

• May be associated with absence of the septum pellucidum and hypothalamic-pituitary dysfunction, which is known as septo-optic dysplasia, or de Morsier syndrome

  • Children with septo-optic dysplasia and hypocortisolism are at risk for

    • Sudden death during febrile illness from thermoregulatory disturbance

    • Dehydration from diabetes insipidus

• May occur in infants of diabetic mothers and has also been associated with alcohol use or ingestion of quinine or phenytoin during pregnancy

• Anatomically, the optic nerve may range from absent (aplasia) to almost full size, with a segmental defect.

Clinical Findings

• Visual function ranges from mildly decreased to absent light perception

• If only one eye is involved, strabismus is usually presenting sign

• If both eyes are affected, nystagmus is usually the presenting sign

Diagnosis

• Ophthalmoscopy is performed to directly visualize the optic nerves and to determine the severity of the hypoplasia

• Neuroimaging of the brain and endocrine consultation should be performed in all patients with bilateral optic nerve hypoplasia

Treatment

• Sensory amblyopia and significant refractive errors should be treated by an ophthalmologist

• Strabismus surgery may be necessary in certain patients

• Endocrine abnormalities should be managed as necessary