When was duane syndrome discovered

When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern. In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance. In these families, one or more children are affected, although the parents typically have no signs or symptoms of the condition. The parents of children with an autosomal recessive condition are called carriers, which means they carry one mutated copy of a gene in each cell.

In affected children, both copies of the gene in each cell are mutated. However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice.

Contact a health care provider if you have questions about your health. Isolated Duane retraction syndrome. From Genetics Home Reference. Description Isolated Duane retraction syndrome is a disorder of eye movement. Children with Duane syndrome are born with the disorder.

However, it might not become readily apparent until the child grows older and starts demonstrating difficulty with vision or an abnormal head turn to the side. Most cases of Duane syndrome are diagnosed by age Ninety percent of children with Duane syndrome have no family history of the disorder. About 5 percent of people with Duane syndrome have a parent with Duane syndrome dominant inheritance. Here at Children's, our research team has discovered the CHN1 mutation in patients with dominantly inherited Duane syndrome.

Is Duane syndrome hereditary? Are there different types of Duane Syndrome? Do Duane Syndrome patients have other eye problems? Do Duane Syndrome patients have non-ocular medical problems? When is Duane Syndrome treated? Surgery for Duane syndrome is indicated for one of four reasons: To reduce a significant deviation in normal straight-ahead position To eliminate a significant abnormal head position To eliminate a significant upshoot or downshoot.

To eliminate disfiguring abnormal eyelid position The goal of treatment is to restore satisfactory eye alignment in the straight-ahead position, eliminate an abnormal head posture and to prevent amblyopia. How successful is surgery for Duane Syndrome?

Where can I find more information regarding Duane syndrome? Last Updated By: Christina Scott Related Links No Related Resource entered. Search by Eye Terms Eye Conditions. Translate page:. Site by eConverse Media. Powered by Higher Logic. Many researchers believe that DS results from a disturbance - either by genetic or environmental factors - during embryonic development.

Since the cranial nerves and ocular muscles are developing between the third and eighth week of pregnancy, this is most likely when the disturbance happens. Presently, it appears that several factors may be involved in causing DS. Therefore it is doubtful that a single mechanism is responsible for this condition. The diagnosis of Duane syndrome is based on clinical findings. Mutations in the CHN1 gene are associated with familial isolated Duane syndrome. Direct sequencing of the CHN1 gene is available as a clinical test, and has to date detected missense mutations in seven patients and affected family members.

The CHN1 mutations have not been found to be a common cause of simplex Duane retraction syndrome. Most likely, both genetic and environmental factors play a role in the development of Duane syndrome DS. For those cases that show evidence of having a genetic cause, both dominant and recessive forms of DS have been found.

When a gene is dominant, only one gene from one parent is needed for the individual to express it physically. However, when a gene is recessive, a copy of the gene from both parents is needed for expression.

The chromosomal location of the proposed gene for this syndrome is currently unknown.