Other Names for this Disease
- De morsier syndrome
- Hypopituitarism and septooptic 'dysplasia'
- Septo-optic dysplasia with growth hormone deficiency
- Septooptic 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?
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.
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.
Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.
Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family.
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.
- Septo-optic dysplasia. Genetics Home Reference. March 2010; http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia. Accessed 7/13/2012.
- 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.