Septo-Optic Dysplasia (SOD)

Overview

What is septo-optic dysplasia?

Septo-optic dysplasia (SOD) is a rare disorder that affects development in different parts of your brain. These affected brain parts can influence malfunction of your eyes, hormones, muscles, learning and many other functions. The disorder is congenital, which means it’s present at birth — although symptoms may not develop until later in life. Another name for SOD is de Morsier syndrome.

SOD may include:

  • Midline brain abnormalities: The septum pellucidum and corpus callosum are tissues and nerve fibers that separate the two halves of your brain. In SOD, they might not develop fully or be absent.
  • Optic nerve hypoplasia: When your optic nerve (the nerve that connects your eye to your brain) doesn’t fully develop, your brain and eyes can’t communicate well. The condition can lead to problems with vision and eye movements.
  • Pituitary gland hypoplasia: Your pituitary gland is at the base of your brain. It regulates many bodily functions, including growth hormones. An underdeveloped pituitary gland may not produce enough or any hormones.

Most people with SOD experience two of these three issues. About one-third have all three. Between 60% and 90% of people have vision problems.

Who’s at risk for septo-optic dysplasia?

Some factors may increase the risk of SOD, including:

  • Certain medications, substances or street drugs.
  • Disruption of blood flow to the brain during fetal development.
  • Family history of the disease.
  • Viruses that affect the mother or fetus during development.
  • Being born to a very young mother.

How common is septo-optic dysplasia?

SOD is a rare disease. It affects about 1 in 10,000 newborns. It’s equally common in men and women.

Symptoms and Causes

What causes septo-optic dysplasia?

Experts don’t know exactly what causes SOD. Some genes may contribute to the disease. Parents can pass these genes to their children. But genetic changes can also happen spontaneously in the uterus.

What are the signs and symptoms of septo-optic dysplasia?

Signs and symptoms of SOD vary from person to person, depending on the structures affected. Some symptoms are noticeable at birth, but others don’t develop until childhood or later.

Symptoms or conditions resulting from abnormal brain or fetal development may include:

Symptoms of optic nerve dysplasia may include:

  • Crossed eyes (strabismus).
  • Involuntary side-to-side eye movements (nystagmus).
  • Inward and outward drifting or wandering of your eyes.
  • Lazy eye (amblyopia).
  • Low vision or blindness in one or both eyes.
  • Pupils that dilate, or widen, abnormally in response to light (mydriasis).

Symptoms of pituitary dysplasia may include:

  • A lack of hormones from your pituitary gland (panhypopituitarism).
  • Abnormal sexual development, such as delayed (late) or precocious (early) puberty.
  • Diabetes insipidus.
  • Genital abnormalities, such as micropenis.
  • Hormonal problems, especially insufficient growth hormone.
  • Loss of sense of smell (anosmia).
  • Low blood sugar (hypoglycemia).
  • Low levels of muscle tone (hypotonia).
  • Obesity.
  • Problems regulating body temperature, thirst or hunger.
  • Short stature or slow growth.
  • Sleeping problems.
  • Underactive thyroid (hypothyroidism).
  • Yellow skin or eyes (jaundice).

Diagnosis and Tests

How is septo-optic dysplasia diagnosed?

Your healthcare provider may diagnose SOD soon after birth if they notice visible signs. These may include jaundice, eye movement problems or abnormal facial features. Tests for SOD typically include:

  • Genetic testing: Your healthcare provider may perform genetic testing before or after birth if SOD runs in your family.
  • Hormone testing: Blood tests evaluate pituitary gland function, as well as thyroid function and cortisol levels.
  • Imaging: An MRI or CT scan shows issues with brain development and function. These scans can also identify underdevelopment of the optic nerve.
  • Vision testing: An eye exam and vision test check eyesight, as well as abnormalities with eye movements or position.

Management and Treatment

How is septo-optic dysplasia treated?

There isn’t a cure for SOD. Treatment aims to manage symptoms and slow or prevent metabolic problems that can cause serious health issues. Treatment is more effective when SOD is in its early stages.

A team of healthcare providers, including pediatricians, ophthalmologists, neurologists and endocrinologists, work together to create the most effective care plan.

SOD treatment may include:

  • Hormone replacement therapy (HRT): HRT can help regulate some problems related to pituitary gland dysfunction, including sexual development and growth. HRT may also prevent the development of obesity and diabetes.
  • Physical, occupational or speech therapy: Physical therapy can help children build muscle strength and function. Occupational therapy can also teach them to perform everyday activities more independently. Speech therapy can help with language and communication skills.
  • Vision therapy: Vision therapy may help children manage problems with focusing or moving their eyes. They also learn to use low-vision aids, such as glasses or magnifiers, to better function at school.

Prevention

Can septo-optic dysplasia be prevented?

There’s no way to prevent SOD specifically. But, a planned pregnancy while practicing a healthy lifestyle is a good goal to avoid preventable risk factors mentioned above. Early diagnosis and treatment are the most effective ways to manage symptoms. Let your child’s healthcare provider know as soon as you notice any signs or symptoms.

Outlook / Prognosis

What’s the prognosis (outlook) for people with septo-optic dysplasia?

The outlook and life-expectancy for people with SOD varies based on the symptoms. Early diagnosis and treatment can lead to better outcomes. Children with SOD need long-term monitoring by parents, caregivers and healthcare providers. Certain symptoms, such as development or intellectual delays, can take years to develop. Severe pituitary gland problems can be life-threatening.

Living With

What questions should I ask my child’s healthcare provider about septo-optic dysplasia?

If you have a child living with SOD, you may want to ask your healthcare provider the following questions:

  • Are there support services available for parents and children living with SOD?
  • How can I help my child manage SOD?
  • What are signs that the disease is getting worse?
  • Will my child go blind?
  • Will my child have challenges in school?
  • Will SOD progress? If so, how quickly?

A note from Cleveland Clinic

Septo-optic dysplasia (SOD) is a rare congenital disease, meaning you’re born with it. People with SOD may have underdevelopment of their optic nerve, pituitary gland or certain structures in their brain. It can lead to eye problems, hormone imbalances and a range of neurological and developmental problems. Hormone replacement therapy may help manage some symptoms. Children may also benefit from physical, speech, occupational or vision therapy based on their specific challenges.

Last reviewed by a Cleveland Clinic medical professional on 04/19/2022.

References

  • American Academy of Ophthalmology. Diagnosing Septo-Optic Dysplasia. (https://www.aao.org/eyenet/article/diagnosing-septo-optic-dysplasia) Accessed 4/19/2022.
  • Genetic and Rare Diseases (GARD) Information Center and the National Center for Advancing Translational Sciences. Septo-optic dysplasia spectrum. (https://rarediseases.info.nih.gov/diseases/7627/septo-optic-dysplasia-spectrum) Accessed 4/19/2022.
  • MedlinePlus. Septo-optic dysplasia. (https://medlineplus.gov/genetics/condition/septo-optic-dysplasia/) Accessed 4/19/2022.
  • Webb EA, Dattani MT. Septo-optic dysplasia. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987262/) European Journal of Human Genetics. 2010 April;18(4):393-397. Accessed 4/19/2022.

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