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Disease Profile

X-linked congenital stationary night blindness

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

H53.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

X-linked CSNB; Congenital stationary night blindness with myopia; Hemeralopia-myopia;

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

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]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Reduced visual acuity
Decreased clarity of vision
0007663
30%-79% of people have these symptoms
Congenital stationary night blindness with abnormal fundus
0030639
Congenital stationary night blindness with normal fundus
0030638
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
5%-29% of people have these symptoms
Compensatory head posture
0031705
Electronegative electroretinogram
0007984
Hypermetropia
Farsightedness
Long-sightedness

[ more ]

0000540
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
0030483
1%-4% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Color vision defect
Abnormal color vision
Abnormality of color vision

[ more ]

0000551
Retinal thinning
0030329
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
High myopia
Severe near sightedness
Severely close sighted
Severely near sighted

[ more ]

0011003
X-linked inheritance
0001417
X-linked recessive inheritance
0001419

Diagnosis

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.

Organizations

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

    Organizations Providing General Support

      Learn more

      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.

          References

          1. X-linked congenital stationary night blindness. Genetics Home Reference. May 2009; https://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; https://www.ncbi.nlm.nih.gov/books/NBK1245/. Accessed 10/14/2011.

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