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X-linked infantile nystagmus
URL of this page: https://medlineplus.gov/genetics/condition/x-linked-infantile-nystagmus/

X-linked infantile nystagmus

Description

X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side, up-and-down, or circular movements of the eyes. In people with X-linked infantile nystagmus, the movements are typically side-to-side. In individuals 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. Some affected individuals will experience involuntary changes in the direction of their eye movements (periodic alternating nystagmus). 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. Individuals with X-linked infantile nystagmus may have other eye abnormalities. For example, the region at the back of the eye responsible for sharp central vision may be underdeveloped (foveal hypoplasia).

Frequency

The incidence of X-linked infantile nystagmus is estimated to be 4.4 in 10,000 individuals.

Causes

Variants (also called 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 variants cause nystagmus by disrupting the development of certain nerve cells in the brain and retina.

In some people with X-linked infantile nystagmus, no variant in the FRMD7 gene has been found. The genetic cause of the disorder is unknown in these individuals. Researchers believe that variants in at least one other gene, which has not been identified, can cause this disorder. Nystagmus can also occur in people with other X-linked eye conditions, such as X-linked ocular albinism. Such cases are caused by changes in genes associated with the particular condition.

Learn more about the gene associated with X-linked infantile nystagmus

Inheritance

X-linked infantile nystagmus is inherited in an X-linked pattern.  The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes.  In males (who have one X chromosome), a variant in the only 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 can cause the condition, although the features may be less severe than in individuals with two altered copies. Some of these individuals may have no signs or symptoms at all; approximately half of females with only one altered copy of the FRMD7 gene have no symptoms of this condition.

Other Names for This Condition

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

Additional Information & Resources

Genetic Testing Information

Patient Support and Advocacy Resources

Clinical Trials

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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  • Sarvananthan N, Surendran M, Roberts EO, Jain S, Thomas S, Shah N, Proudlock FA, Thompson JR, McLean RJ, Degg C, Woodruff G, Gottlob I. The prevalence of nystagmus: the Leicestershire nystagmus survey. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5201-6. doi: 10.1167/iovs.09-3486. Epub 2009 May 20. Citation on PubMed
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  • Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S, Moore AT, Gottlob I. Abnormal retinal development associated with FRMD7 mutations. Hum Mol Genet. 2014 Aug 1;23(15):4086-93. doi: 10.1093/hmg/ddu122. Epub 2014 Mar 31. Citation on PubMed
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  • Thomas MG, Maconachie G, Hisaund M, Gottlob I. FRMD7-Related Infantile Nystagmus. 2009 Feb 12 [updated 2018 Aug 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK3822/ Citation on PubMed
  • Thomas MG, Maconachie G, Sheth V, McLean RJ, Gottlob I. Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing. Eur J Hum Genet. 2017 Jun;25(6):725-734. doi: 10.1038/ejhg.2017.44. Epub 2017 Apr 5. Citation on PubMed
  • Thomas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke RD, Woodruff G, Langmann A, Lindner S, Jain S, Tarpey P, Raymond FL, Gottlob I. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. Brain. 2008 May;131(Pt 5):1259-67. doi: 10.1093/brain/awn046. Epub 2008 Mar 27. Citation on PubMed
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