Septo-optic dysplasia is a combination of abnormal development of the optic disk, pituitary deficiencies and, usually, absence of the septum pellucidum – the part of the brain separating the anterior horns or lateral ventricles.
It is a rare disorder and symptoms may include blindness in one or both eyes, pupil dilation in response to light, involuntary to-and-fro movement of the eyes (nystagmus), inward or outward deviation of the eyes and hormonal irregularities.
Seizures also can occur and congenital jaundice has been noted in a few cases.
Intellectual problems are present in varying degrees: some children may have normal intelligence but others may suffer learning disabilities and mental retardation.
Treatment
Treatment for Septo-optic dysplasia is symptomatic. Hormone deficiencies can be treated with hormone replacement therapy but optical problems associated with the disorder usually cannot be treated. Vision, occupational and physical therapies may be indicated.
