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Genetic and Rare Diseases Information Center (GARD)

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X-linked congenital stationary night blindness


Other Names for this Disease

  • Congenital stationary night blindness with myopia
  • Hemeralopia-myopia
  • Myopia-night blindness
  • X-linked CSNB
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is X-linked congenital stationary night blindness?


Is genetic testing available for X-linked congenital stationary night blindness?

What is X-linked congenital stationary night blindness?

X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.[1]
Last updated: 10/14/2011

Is genetic testing available for X-linked congenital stationary night blindness?

Yes. About 45% of individuals with XLCSNB have the complete form, which is caused by mutations in the NYX gene. The other 55% have the incomplete form, which is caused by mutations in the CACNA1F gene.[2] GeneTests lists the names of laboratories that are performing genetic testing for both of these genes. To view the contact information for the clinical laboratories conducting testing for NYX, click here. To view the contact information for the clinical laboratories conducting testing for CACNA1F, click here

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  In the Services tab, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 10/14/2011

References
  1. X-linked congenital stationary night blindness. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness. Accessed 10/14/2011.
  2. Boycott KM et al.. X-Linked Congenital Stationary Night Blindness. GeneReviews. January 2008; http://www.ncbi.nlm.nih.gov/books/NBK1245/. Accessed 10/14/2011.


Other Names for this Disease
  • Congenital stationary night blindness with myopia
  • Hemeralopia-myopia
  • Myopia-night blindness
  • X-linked CSNB
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.