Septo-optic Dysplasia

By | June 10, 2022

Septo -optic dysplasia is a neurological disorder characterized by pituitary insufficiency, optic nerve underdevelopment, and brain midline defects. The disease is a genetic mutation. Lifelong hormone replacement therapy is used to treat the symptoms.

What is Septo-optic Dysplasia?

In Septo-optic dysplasia, there is a genetic underdevelopment of the optic nerve from birth. In combination with this, an insufficiency of the pituitary gland characterizes the clinical picture, which results in a hormonal deficiency. In addition, there are usually midline defects of the brain due to defects in the early development of the rostral cerebral cortex. For ego syntony in dictionary, please visit

In healthy people, the septum pellucidum separates the two cerebral hemispheres. This separating structure is usually not present in patients with septo-optic dysplasia. The disease is also called De Morsier syndrome. This name goes back to the first describer Georges de Morsier, who discovered the phenomenon in the 20th century.

The prevalence for the neurological defect is about 1:10,000. This makes septo-optic dysplasia a rather rare disease with a non-uniform inheritance, which can be traced back to various gene mutations. The clinical symptoms are extremely diverse and depend on the respective hormone deficiency in the individual case.


The cause of septo-optic dysplasia are genetic mutations. For example, mutations in the HESX1 gene on chromosome 3p21.2-p21.1 have been described in many cases. Three other gene mutations were found in similar phenotypes of the disease. Mutations in the SOX2 gene on chromosome 3q26.3-q27, those in the SOX3 gene on chromosome Xq26.3 and OTX2 mutations on chromosome 14q21-q22 presumably also play a role in the individual symptoms of the disease.

Depending on the location and amount of gene mutations, the phenotype of the disease can vary considerably. Presumably, a genetic disposition plays a role in the disease. However, scientists believe that external factors such as medication and alcohol are the triggers for the mutations.

The genetic disposition therefore only plays a subordinate role for the actual disease. As a consequence, most cases of illness occur sporadically and not in families. There have also been family cases. Both autosomal dominant and autosomal recessive inheritance have occurred in this context.

Symptoms, Ailments & Signs

In newborns with septo-optic dysplasia, there is usually yellowing of the skin, mucous membranes, and internal organs. In addition, short stature can exist. Multiple malformations are also frequently observed, preferably on the face. In many cases, there is an uncontrolled twitching of the eyes.

The blood glucose concentration of the patient falls below normal. Visual disturbances are considered the leading symptom of septo-optic dysplasia. The underdevelopment of the optic nerve can be unilateral, but it can also be present in both eyes. Sometimes malformations of the cerebral cortex are found. In around 62-80 percent of cases, there is an insufficiency of the anterior pituitary gland, which primarily leads to a lack of growth hormones.

Rarely, there is also a lack of the hormones TSH, ACTH or GnRH. The intellectual development of patients is often delayed. Seizures can also be part of the clinical picture. Sleep disturbances are just as common. The same applies to sensorineural hearing loss, heart defects, obesity and autism.

Diagnosis & course of disease

Imaging methods such as sonography and magnetic resonance imaging play a role in making the diagnosis of septo-optic dysplasia. In this way, the doctor receives a comprehensive picture of the development of the brain and the individual cranial nerves. However, if the septum pellucidum is absent or malformed on imaging, this finding is not sufficient to diagnose septo-optic dysplasia.

This phenomenon can also occur in isolation. Therefore, additional ophthalmological examinations are carried out to diagnose septo-optic dysplasia, which may confirm the suspicion. Hormone tests can identify pituitary insufficiency and reveal the extent of this phenomenon. The prognosis for septo-optic dysplasia depends on the individual symptoms and the extent of the mutations.


First and foremost, those affected by this disease suffer from yellowing of the skin. This can also have a negative effect on the aesthetics of the person concerned, so that the patients feel ashamed of the symptoms and do not feel comfortable with them. In children and adolescents, the yellowing can lead to bullying or teasing.

The disease is accompanied by short stature, which can have a negative impact on the development of the child. The eyes of those affected often twitch uncontrollably. Patients often suffer from visual disturbances. These do not always have to affect both eyes, but can be solved relatively easily with the help of visual aids. However, the disease also causes convulsions or epileptic seizures.

Furthermore, the patients suffer from hearing loss, severe forms are associated with heart defects. Psychological complaints or behavioral disorders are also not uncommon. The treatment of the condition usually depends on the exact symptoms. However, a completely positive course of the disease cannot be achieved. In most cases, however, the patient’s life expectancy is not affected. Even with the treatment itself, there are no particular complications.

When should you go to the doctor?

With this disease, the patient is usually always dependent on medical treatment. Only proper and professional treatment by a doctor can prevent further complications and symptoms. Since this is a hereditary disease, a complete cure cannot be achieved. If the person concerned wishes to have children, genetic counseling can also be carried out in order to possibly avoid the disease being passed on to the descendants.

A doctor should be consulted for this disease if the patient suffers from severe short stature. In many cases, there is also twitching of the eyes or, in general, severe visual disturbances. If you have these symptoms, you should see a doctor. In the further development, there are also problems with growth and also with the mental development of the person concerned. Heart problems or hearing loss also point to this disease.

The disease can be diagnosed by a general practitioner. In the further treatment, however, the examination by the respective specialist is necessary in order to alleviate the symptoms.

Treatment & Therapy

Septo-optic dysplasia cannot be cured and can only be treated symptomatically. The therapy depends on the individual symptoms. For example, some malformations can be corrected surgically. Hormone replacement is part of the therapy plan for almost all patients with septo-optic dysplasia. The missing hormones are replaced with medication in this treatment. This substitution must be lifelong.

The pituitary produces stimulating messenger substances for the gonads, the adrenal cortex and the thyroid. Therefore, an insufficiency of the pituitary gland can lead to a deficiency of the hormones of the adrenal cortex. These hormones are also known as stress hormones and are considered vital substances in the body. Without the substitution there would be danger to life.

A lack of thyroid hormones or gonadal hormones can also have far-reaching consequences. Obesity and delayed or absent sexual development are conceivable as part of deficiency symptoms. Since visual disturbances are also one of the main symptoms of septo-optic dysplasia, long-term care by an ophthalmologist is an important therapeutic step for patients with this disease. Sometimes those affected can learn to compensate for certain symptoms of their visual impairments in visual schools or even improve them permanently through targeted training.


Presumably, expectant mothers can prevent septo-optic dysplasia by avoiding medication and alcohol consumption during pregnancy. However, this only applies if the genetic disposition alone is not sufficient for the outbreak of the disease.


Septo-optic dysplasia is an inherited disorder with a low prevalence. In a group of 10,000 people, on average, one person is affected. In addition to hormone production in the brain, vision is damaged, and abnormalities in the brain structure also occur. Follow-up care is necessary in order to treat the dysplasia and enable the patient to lead a largely unrestricted life. With early treatment, the prognosis is best.

There is no uniform clinical picture, dysplasia can be expressed through various symptoms. A specialist will first make a differential diagnosis in order to be able to rule out similar diseases. Septo-optic dysplasia is treated by hormone regulation and ophthalmological treatment. Drugs are administered to normalize hormone levels.

Follow-up care includes regular checks to record the healing progress. If side effects occur, alternative preparations are administered. The ophthalmologist treats the poor eyesight. The appointments at the eye school are part of the aftercare in order to maintain the healing success in the long term.

How long the follow-up treatment at the ophthalmologist lasts depends on the severity of the septo-optic dysplasia. Hormone levels, on the other hand, have to be monitored throughout life and treated with medication. The need changes with advancing age, the specialist doctor adjusts the dosage to the age.

You can do that yourself

Self-help for septo-optic dysplasia is closely related to symptomatic therapy. The existing malformations cannot be healed, but corrective surgery is possible. Since the hormones missing due to the illness are vital stress hormones, the patients need the appropriate medication as a substitute. These must always be taken in order to rule out complaints.

In connection with the deficiency symptoms, the patients often do not develop normally. Sexual development can suffer, and obesity is common. A special change in diet helps only to a small extent. Medical care is therefore more important, which improves the quality of life together with the individual medication setting.

The typical visual disturbances, which are among the most common symptoms of the disease, can be treated in a targeted manner by an ophthalmologist. Attending a vision school or special vision training can help here. As a result, those affected learn to compensate for and often even optimize their visual impairment. This makes everyday life easier for them and has a positive effect on their overall mood.

If there is a genetic disposition, expectant mothers should not consume drugs or alcohol during pregnancy. This improves the prospects for their children that the disease does not break out.

Septo-optic Dysplasia