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X-linked infantile nystagmus

X-linked infantile nystagmus

Reviewed September 2009

What is X-linked infantile nystagmus?

X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when an affected person is feeling anxious or tries to stare directly at an object. The severity of nystagmus varies, even among affected individuals within the same family. Sometimes, affected individuals will turn or tilt their head to compensate for the irregular eye movements.

How common is X-linked infantile nystagmus?

The incidence of all forms of infantile nystagmus is estimated to be 1 in 5,000 newborns; however, the precise incidence of X-linked infantile nystagmus is unknown.

What genes are related to X-linked infantile nystagmus?

Mutations in the FRMD7 gene cause X-linked infantile nystagmus. The FRMD7 gene provides instructions for making a protein whose exact function is unknown. This protein is found mostly in areas of the brain that control eye movement and in the light-sensitive tissue at the back of the eye (retina). Research suggests that FRMD7 gene mutations cause nystagmus by disrupting the development of certain nerve cells in the brain and retina.

In some people with X-linked infantile nystagmus, no mutation in the FRMD7 gene has been found. The genetic cause of the disorder is unknown in these individuals. Researchers believe that mutations in at least one other gene, which has not been identified, can cause this disorder.

Read more about the FRMD7 gene.

How do people inherit X-linked infantile nystagmus?

This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two copies of the X chromosome), one altered copy of the gene in each cell can cause the condition, although affected females may experience less severe symptoms than affected males. Approximately half of the females with only one altered copy of the FRMD7 gene in each cell have no symptoms of this condition.

Where can I find information about diagnosis or management of X-linked infantile nystagmus?

These resources address the diagnosis or management of X-linked infantile nystagmus and may include treatment providers.

You might also find information on the diagnosis or management of X-linked infantile nystagmus in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about X-linked infantile nystagmus?

You may find the following resources about X-linked infantile nystagmus helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for X-linked infantile nystagmus?

  • congenital motor nystagmus
  • FRMD7-related infantile nystagmus
  • idiopathic infantile nystagmus
  • NYS1
  • X-linked congenital nystagmus
  • X-linked idiopathic infantile nystagmus

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about X-linked infantile nystagmus?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding X-linked infantile nystagmus?

cell ; chromosome ; congenital ; gene ; idiopathic ; incidence ; involuntary ; motor ; mutation ; nystagmus ; protein ; retina ; sex chromosomes ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: September 2009
Published: April 7, 2014