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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Septo-optic dysplasia


Other Names for this Disease
  • De morsier syndrome
  • Hypopituitarism and septooptic 'dysplasia'
  • Septo-optic dysplasia with growth hormone deficiency
  • Septooptic dysplasia
  • SOD
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Overview



What is septo-optic dysplasia?

What symptoms are associated with septo-optic dysplasia?


What causes septo-optic dysplasia?


Is septo-optic dysplasia inherited?


Can septo-optic dysplasia be cured?

What is the prognosis for individuals with septo-optic dysplasia?


What is septo-optic dysplasia?

Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.[1]
Last updated: 7/13/2012

What symptoms are associated with septo-optic dysplasia?

Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development.[1][2] Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.[2]
Last updated: 7/13/2012

What causes septo-optic dysplasia?

In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development.[1]

At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia.[1]

Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.[1]

Last updated: 8/10/2010

Is septo-optic dysplasia inherited?

Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family.[1]

Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies of an associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In a few affected families, the disorder has had an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the condition.[1]

Last updated: 8/10/2010

Can septo-optic dysplasia be cured?

There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required.[2]
Last updated: 8/10/2010

What is the prognosis for individuals with septo-optic dysplasia?

The prognosis for individuals with septo-optic dysplasia varies according to the presence and severity of symptoms.[2]
Last updated: 8/10/2010

References
  1. Septo-optic dysplasia. Genetics Home Reference. March 2010; http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia. Accessed 7/13/2012.
  2. NINDS Septo-Optic Dysplasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm. Accessed 7/13/2012.