Definition:
Septo-optic dysplasia is a rare disorder marked by abnormal development of the optic disk, pituitary insufficiencies, and most of the time absence of the septum pellucidum. The septum pellucidum is the part of the brain that separates the anterior horns or the lateral ventricles of the brain.
Diagnosis:
The magnetic resonance demonstration of hypoplastic optic tracts can provide diagnosis for Septo-optic dysplasia.
Treatment:
Symptomatic treatment is the treatment approach for Septo-optic dysplasia; however optical problems are usually not curable. Therapies for vision, physical and occupational areas may be useful and beneficial. In cases when hormone deficiency is manifested, hormone replacement therapy can be considered as vital treatment approach.
Symptoms and Signs:
Septo-optic dysplasia presents the following symptoms:
• Blindness in one or both eyes
• Dilated pupils when exposed to light
• Rapid and involuntary movement of the eyes (nystagmus)
• Inward and outward movement away of the eye
• Low muscle tone (Hypotonia)
• Hypoglycemia
• Jaundice
• Unusually small penis (micropenis) for a boy patient
• Seizures
• Developmental delay due to visual impairment
Causes:
Septo-optic dysplasia is a sporadic birth defect with no known cause; however it is regarded as a developmental disorder consequential from a defect of standard embryological development.
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