Septo Optic Dysplasia
From Holoprosencephaly
SEPTO-OPTIC DYSPLASIA
Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.
While there may be some overlapping features with holoprosencephaly (HPE), in SOD there is no problem with the lack of cleavage of the cerebral hemispheres or the deeper structures.
Some children with HPE have the equivalent of SOD with some additional features. By "labelling" a child with HPE rather than SOD, physicians are referring to a more extensive brain involvement with lack of cleavage between the two cerebral hemispheres and the midline structures that is seen in HPE. In both disorders children may have problems with regulation of sodium and water (diabetes insipidus). The disorders are thought to have different causes and onset during fetal life.
Treatment Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.
Prognosis
The prognosis for individuals with SOD varies according to the presence and severity of symptoms.
Source:
National Institute for Neurological Disorders and Stroke
The Carter Center
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