March 21, 2019

Septo-optic Dysplasia: What to Know about This Rare Disease

By Evelyn M. Artz, MD

brain scan tablet

Involuntary eye movement. Seizures. Low muscle tone. Cognitive delays or disabilities. These and other symptoms may be signs of septo-optic dysplasia (SOD), a disease occurring in 1 in every 10,000 children.

SOD is a disorder of early brain development and is diagnosed when two or more of the following are present:

  1. Optic nerves (nerves that help eye and brain communicate) do not develop properly
  2. Malformations in the midline part of the brain
  3. Pituitary hormone issues, which can cause growth, puberty or salt and water metabolism problems

According to the U.S. National Library of Medicine, in most cases the cause of SOD is unknown, but environmental risk factors may include viral infections, specific medications and a disruption in blood flow to certain areas of the brain during critical periods of development.

Mission Health pediatric endocrinologist, Evelyn M. Artz, MD, explains the symptoms, diagnosis and treatment for this rare disease.

Signs of SOD

Children with SOD may show signs at birth or identifiers may present themselves as the child grows older. Signs could include:

  • Involuntary eye movement in which eyes move back and forth or up and down rapidly
  • Crossed eyes
  • Low blood sugar
  • Jaundice
  • Very small penis
  • Cleft palate
  • Seizures
  • Slowed growth or short stature
  • Delayed puberty

SOD Diagnosis

There are two types of tests that can be conducted to diagnose SOD. First, an MRI would be conducted to take a closer look at the child’s optic nerves and brain development. Second, blood work would be ordered to evaluate the pituitary hormones.

SOD Treatment

While there is no cure for this condition, treatment is done for the specific symptoms that the individual is experiencing. For example, visual concerns would be managed by an ophthalmologist, while pituitary hormone issues would be managed by an endocrinologist.

We recommend all children with SOD be referred to an endocrinologist as pituitary hormone issues may evolve over time.

Evelyn M. Artz, MD, is a pediatric endocrinologist at Mission Children’s Hospital.

To learn more about the pediatric specialty services at Mission Children’s Hospital, visit