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
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
Treatment for septo-optic dysplasia
The goal of treatment for septo-optic dysplasia is to address associated symptoms.
Because the symptoms can vary greatly from child to child with this condition, treatment is tailored to each patient. Treatment may involve many different specialists, including ophthalmologists, neurologists, endocrinologists and therapists to help the child build strength and ability in areas of weakness.
If hormone deficiencies caused by an under-developed pituitary gland are among the child’s problems, this may be treated with hormone replacement therapy.
The outlook for children and adolescents with septo-optic dysplasia varies with the nature and severity of the symptoms. Early detection and intervention can help affected children reach their full potential.
- Some children with septo-optic dysplasia have normal intelligence, while others have learning disabilities and developmental delays. Learning problems can be helped with therapy.
- Vision loss from underdeveloped optic nerves cannot be restored. But in many children, vision may improve somewhat during early childhood. Therapy and special support can help children with vision problems.
- Hormone replacement therapy is effective in addressing endocrine deficiencies caused by an under-developed pituitary gland.
Lifelong treatment or follow-up is generally needed if medication is required to replace hormone production. Ongoing surveillance by Neuro-Ophthalmology and/or Neurology may also be appropriate.
Why choose CHOP?
Children with septo-optic dysplasia often require care from many pediatric specialties.
The Neuroendocrine Center at Children’s Hospital of Philadelphia (CHOP) offers families a coordinated and multidisciplinary approach to treatment for neuroendocrine disorders. Our team combines the expertise of pediatric endocrinologists, neuro-oncologists, neuro-surgeons, neuro-ophthalmologists, neuro-radiologists and pathologists.
All our team members have vast experience in the treatment of complex neuroendocrine conditions.