Septo-optic Dysplasia

What is septo-optic dysplasia?

Septo-optic dysplasia is a condition of brain development. The condition is called septo-optic dysplasia because of underdevelopment of the optic nerves and problems with a part of the brain called the septum. The underdevelopment of the optic nerves is called optic nerve hypoplasia.

The septum separates and connects the right and left sides of the brain. Problems with the septum can lead to issues with sending signals around the brain. This can lead to delays in a child’s development. The optic nerves are the cables that connect the eyes to the brain. Underdevelopment of the optic nerves or optic nerve hypoplasia can cause difficulty sending signals from the eyes to the brain. This can limit the amount of vision a child has and affect their eye movement.

Septo-optic dysplasia can also be associated with the pituitary gland. The pituitary gland is located below the brain and controls many of the body’s hormones. These hormones are important for the body’s growth and development. Septo-optic dysplasia can cause problems to just one or all of these body parts. 


What are the causes of septo-optic dysplasia?

In most cases, the cause of septo-optic dysplasia is not known. It is not thought to run in families. 


What are the symptoms of septo-optic dysplasia?

Even though septo-optic dysplasia is present at birth, sometimes it is not discovered until a few months of age or even much later. Some patients present with signs of decreased vision or abnormal eye movements called nystagmus.  Other symptoms may include low blood sugar early in life, poor growth, low energy, excessive thirst, seizures, delays in development, problems with vision, and/or issues with rapid eye movement. 


How is septo-optic dysplasia diagnosed?

Diagnosis begins with a full history and physical examination. Patients usually will require an evaluation by an endocrinologist and an evaluation by an ophthalmologist. Careful attention should be paid to growth charts and hormone function. Vision and eye control will also be checked. Additional tests may include blood tests or even an MRI to look at the brain and eye structures. 


What is the treatment for septo-optic dysplasia?

Treatment for septo-optic dysplasia focuses on the associated symptoms. The symptoms can vary greatly from child to child, so the treatment is specific for each patient. Some treatments may include hormone therapy, vision assessments, and/or physical and occupational therapy.  In patients whose optic nerves are affected, an evaluation by a low vision specialist may also be helpful.