What is septo-optic dysplasia?

Septo-optic dysplasia is a disorder in early brain development. Characteristics of the condition include:

• Under-development of the optic nerves. These nerves carry visual information from the eyes to the brain. In children with septo-optic dysplasia, the optic nerves are abnormally small, resulting in vision problems in one or both eyes. This can include limited vision or uncontrolled eye movements.
• Abnormal development of the structures that separate and connect the right and left halves of the brain. This can lead to cognitive problems.
• Under-development of the pituitary gland. This gland sits just below the center of the brain, behind and between the eyes. It produces or controls the release of a number of important hormones that are critical to the body’s development and function. When the pituitary gland does not function normally, it can slow a child’s growth, delay puberty, and cause problems with the metabolism.

Not every child with septo-optic dysplasia has problems in all three of these areas. The degree of those problems also varies widely from child to child.

Causes of septo-optic dysplasia

Associations between the condition and mutations in certain genes have been found in some cases, but most children with septo-optic dysplasia do not have these genetic mutations. It is rare to find two cases in the same family. In many cases, the cause of septo-optic dysplasia is not known, but gene-environment interactions may play a role.

Researchers suspect that genetic and other factors during early development may combine to trigger the onset of the condition. The other factors being studied include viral infections, certain medications, and disruption in blood flow to the fetus’ brain at key stages of development.

Signs and symptoms of septo-optic dysplasia

Septo-optic dysplasia is a congenital condition (present at birth). But some symptoms may not appear until later in childhood or even in adolescence.

Symptoms may include:

• Rapid side-to-side eye movement (nystagmus)
• Reduced vision in one or both eyes
• Slowed growth or short stature
• Excessive thirst and urination
• Delayed puberty
• Low energy, listlessness or unusual sleepiness
• Muscle weakness
• Weight gain
• Cognitive delays or disabilities
• Seizures

Testing and diagnosis for septo-optic dysplasia

Your doctor will usually begin with a physical exam and with questions about any symptoms you may have noticed.

• Height and weight will be charted to look for changes in growth patterns.
• Other physical examination findings related to hormonal function (e.g., pubertal maturation) will also be assessed.

If eye problems, either abnormal eye movement or poor vision, are among the symptoms, eye tests will be done to understand the exact nature of those problems in the context of a visit to Neuro-Ophthalmology.

Additional tests may include:

• A neurological exam to check mental status, coordination, reflexes and muscle function
• Blood tests to check for high or low levels of hormones and blood sugar
• Blood tests to measure hormone levels
• Magnetic resonance imaging (MRI) scan to get visual images of the pituitary gland, the optic nerves, and the structures between the left and right halves of the brain