National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

X-linked congenital stationary night blindness


Other Names:
X-linked CSNB; Congenital stationary night blindness with myopia; Hemeralopia-myopia; X-linked CSNB; Congenital stationary night blindness with myopia; Hemeralopia-myopia; Myopia-night blindness See More
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormality of macular pigmentation 0008002
High myopia
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ] 		0011003
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ] 		0000662
Optic disc hypoplasia 0007766
Reduced visual acuity
Decreased clarity of vision
0007663
5%-29% of people have these symptoms
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Percent of people who have these symptoms is not available through HPO
Congenital stationary night blindness
Night blindness since birth
0007642
Hemeralopia
Day blindness
0012047
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
X-linked inheritance 0001417
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020
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]

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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to X-linked congenital stationary night blindness. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on X-linked congenital stationary night blindness. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked congenital stationary night blindness. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.