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Key Findings

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  • 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.

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Clinical Findings

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  • 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

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Diagnosis

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  • 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

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Treatment

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  • 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

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