Septo-optic dysplasia is a very rare disorder which is characterized by the abnormal growth of the optic disk. This underdevelopment of the optic nerve is also known as optic nerve hypoplasia. This condition is also characterized by absence of the septum pellucidum and pituitary deficiencies. Septum pellucidum is that part of the brain which separates the lateral ventricles of the brain. Septo-optic dysplasia is also called as de Morsier syndrome. Optic nerve hypoplasia is neccessary for the diagnosis of septo-optic dysplasia.
Symptoms of Septo-optic Dysplasia
The common symptoms of septo-optic dysplasia are as follows:
- Hypotonia (low muscle tone)
- Outward and inward deviation of the eyes
- Nystagmus (rapid, involuntary movement of the eye)
- Dilation of the pupil in response to light
- Blindness in one or both eyes
- Seizures
- Hormonal problems
In some of the cases, jaundice may occur at birth. Jaundice is the prolonged discoloration of the skin. It turns the skin into a yellow shade. Among individuals, there is a variation seen in the severity of intellectual problems.
Most of the children afflicted with septo-optic dysplasia have normal intelligence whereas others may have mental retardation and learning disabilities. But generally, most children have a delayed development due to neurological problems or vision impairment.
Diagnosis of Septo-optic Dysplasia
Diagnosis of septo-optic dysplasia is completely based on the clinical symptoms that are described above. For a more descriptive diagnosis, doctors may use magnetic resonance imaging (MRI) of the brain that focuses on the hypothalamus-pituitary region, visual pathways and septum pellucidum.
Treatment of Septo-optic Dysplasia
Treatment of septo-optic dysplasia is done symptomatically. Hormone replacement therapy is suggested for managing hormone deficiencies. Corrective spectacle lenses are recommended for the best visual acuity.
