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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked congenital stationary night blindness


Other Names for this Disease
  • X-linked CSNB
  • Congenital stationary night blindness with myopia
  • Hemeralopia-myopia
  • Myopia-night blindness
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Tests & Diagnosis

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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.[1]

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 10/14/2011

References
  1. 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
  • X-linked CSNB
  • Congenital stationary night blindness with myopia
  • Hemeralopia-myopia
  • Myopia-night blindness
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.