Autosomal dominant congenital stationary night blindness

Night blindness is a condition characterized by the inability to see clearly in low-light or dark environments. One form of night blindness is known as autosomal dominant congenital stationary night blindness (ADCSNB).

ADCSNB is a genetic disease that affects the brain’s ability to transmit information from the eyes to the visual part of the brain. It is inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to each of their children.

ADCSNB is caused by mutations in different genes, with the most common gene being the beta-subunit of the rod photoreceptor cGMP-gated cation channel gene. This gene is responsible for the normal function of the rod photoreceptor cells in the retina, which are crucial for vision in dim light.

Patients with ADCSNB typically have normal visual acuity during the day, but experience difficulty seeing in dim light or at night. The condition is usually diagnosed through a combination of clinical evaluation, electroretinography (ERG) testing, and genetic testing.

There is currently no cure for ADCSNB, but there are various treatments and support available to help manage the condition. Genetic counseling and patient advocacy groups can provide additional information and resources for patients and their families. Resources such as PubMed and OMIM provide scientific articles and references for learning more about the disease and associated genes.

ADCSNB is a rare condition, with an estimated frequency of less than 1 in 10,000 individuals. It is important for individuals with night blindness or other visual impairments to undergo testing to determine the cause of their condition and receive appropriate support and treatment.

Frequency

The frequency of autosomal dominant congenital stationary night blindness is currently unknown. There are limited published articles on this condition in the scientific literature, and it is considered a rare genetic disease.

Information about the frequency of the condition may be found in online resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and patient advocacy groups.

Genetic testing can help identify specific mutations in the genes associated with autosomal dominant congenital stationary night blindness. The condition is caused by mutations in the genes encoding certain beta-subunit genes involved in visual signaling in the retina.

Transmission of the condition follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.

Additional testing, such as brain imaging, may be necessary to rule out other brain diseases that can present with similar visual symptoms.

Further research is needed to learn more about the frequency, causes, and associated genes of autosomal dominant congenital stationary night blindness.

Causes

Autosomal dominant congenital stationary night blindness (ADCSNB) is a rare genetic condition that affects the normal functioning of the visual system. It is characterized by impaired night vision and reduced visual acuity in daylight, with symptoms usually appearing from early childhood.

The condition is caused by mutations in certain genes that are involved in transmitting information from the visual receptors to the brain. Mutations in the genes associated with ADCSNB can interfere with the normal development and function of the retinal cells, leading to vision problems.

Several genes have been identified to be associated with ADCSNB, including genes encoding the beta-subunit of the rod transducin (GNB1) and the CACNA1F calcium channel subunit. Mutations in these genes disrupt the normal signaling process in the retina, affecting the transmission of visual information to the brain.

ADCSNB follows an autosomal dominant inheritance pattern, which means that a person with one copy of the mutated gene will have the condition. Each child of an affected individual has a 50% chance of inheriting the gene mutation and developing the condition.

Genetic testing can be done to confirm a diagnosis of ADCSNB and identify the specific gene mutation. This testing can also be useful for family planning and providing genetic counseling. Additionally, genetic testing can help researchers and healthcare professionals learn more about the condition and develop potential treatments.

Although there is currently no cure for ADCSNB, there are support and advocacy organizations that provide resources and information for individuals and families affected by the condition. These organizations can offer support, connect patients with others facing similar challenges, and provide information on research and clinical trials.

For more information about the causes of autosomal dominant congenital stationary night blindness, refer to the references and additional resources below:

  • McAlear, S. D., et al. Autosomal Dominant Congenital Stationary Night Blindness. GeneReviews®. 2018. PMID: 20437627.
  • OMIM Entry – #613029 – Congenital Stationary Night Blindness, Autosomal Dominant 1. (www.omim.org)
  • Catalog of Genes and Diseases: Congenital Stationary Night Blindness, Autosomal Dominant 1. (www.ncbi.nlm.nih.gov)
  • Additional articles on autosomal dominant congenital stationary night blindness. (pubmed.ncbi.nlm.nih.gov)

Learn more about the genes associated with Autosomal dominant congenital stationary night blindness

Autosomal dominant congenital stationary night blindness (ADCSNB) is a rare genetic condition that affects the normal functioning of the visual system. It is characterized by difficulty seeing in low-light conditions, particularly at night. ADCSNB is caused by mutations in several different genes.

One of the genes associated with ADCSNB is the gene encoding for the beta-subunit of the rod transducin (GNB1). Mutations in this gene can disrupt the signaling pathway in the rod photoreceptor cells of the retina, leading to impaired vision in low-light conditions.

Another gene associated with ADCSNB is the calcium channel, voltage-dependent, L type, alpha-1C subunit (CACNA1F) gene. Mutations in this gene can affect the function of the calcium channels in the retinal cells, leading to impaired transmission of visual signals to the brain.

Learning more about the genes associated with ADCSNB can provide valuable information on the causes and mechanisms of this condition. It can also help in the development of diagnostic testing and potential treatments for patients with ADCSNB.

There are several resources available to learn more about the genes associated with ADCSNB. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive genetic information on ADCSNB and other genetic diseases. PubMed is another useful resource for finding scientific articles and references on the topic.

In addition to genetic information, it is also important to learn about the frequency of ADCSNB and its inheritance pattern. Genetic testing can be performed to confirm the diagnosis of ADCSNB and identify the specific gene mutations causing the condition.

Support and advocacy organizations can provide valuable support and resources for individuals and families affected by ADCSNB. These organizations can help connect individuals with others who have the same condition and provide information on available support services.

In summary, learning more about the genes associated with Autosomal dominant congenital stationary night blindness can provide valuable insights into the causes and mechanisms of this condition. It can also help in the development of diagnostic testing and potential treatments for patients with ADCSNB.

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Inheritance

In autosomal dominant congenital stationary night blindness (CSNB), the condition is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

Testing is available to determine if an individual carries the genetic mutation associated with autosomal dominant CSNB. Genetic testing can identify the specific mutation in the CACNA1F gene, which codes for the alpha-1F subunit of a voltage-gated calcium channel. This gene is responsible for normal transmission of visual signals in the retina of the eye.

It is important for individuals with autosomal dominant CSNB to consider genetic testing in order to understand the risk of passing the condition on to their children. In some cases, genetic counseling may also be recommended to provide additional information and support.

There are other rare genetic diseases that can cause similar symptoms to autosomal dominant CSNB. Genetic testing can help differentiate between these conditions and provide a more accurate diagnosis.

For more information about autosomal dominant congenital stationary night blindness, genetic testing, and related genes, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): a catalog of human genes and genetic disorders
  • PubMed: a database of scientific articles
  • The Association for Research and Vision in Ophthalmology (ARVO): an advocacy and support organization for individuals with visual conditions

In addition to these resources, healthcare providers and patient advocacy groups can also provide information and support for patients and their families.

Other Names for This Condition

Autosomal dominant congenital stationary night blindness (ADCSNB) is also known by several other names:

  • CSNB1
  • Cone–rod dystrophy, X-linked, with fundus albipunctatus
  • Kong–Camilleon-like night blindness
  • Nyctalopia, congenital stationary, autosomal dominant 2 (CSNB2)

These alternative names are used to describe the same condition with different terminology, allowing for more efficient communication among resources, publications, and patient support groups. The frequency of these different names varies, with “Autosomal dominant congenital stationary night blindness” being the most commonly used term.

To learn more about the condition and its associated genes, testing procedures, and inheritance pattern, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of genetic diseases and associated genes. The page on autosomal dominant congenital stationary night blindness provides additional information and references for further reading.
  • Scientific articles on PubMed – PubMed is a database of scientific literature that includes many articles on autosomal dominant congenital stationary night blindness, allowing you to access the latest research and findings.

By exploring these resources, you can gain a deeper understanding of this rare condition and find support and advocacy groups that can provide more information and assistance.

Additional Information Resources

There are several resources available that provide additional information about Autosomal Dominant Congenital Stationary Night Blindness (AD-CSNB). These resources include:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes, inheritance patterns, and associated symptoms of AD-CSNB. It also includes links to scientific articles and references for further reading.
  • Advocacy organizations, such as the National Organization for Rare Disorders (NORD), offer support and information for individuals and families affected by AD-CSNB. They can provide guidance on managing the condition and connecting with other individuals and families facing similar challenges.
  • The PubMed database offers a wealth of scientific articles and research papers on AD-CSNB. These articles can provide more in-depth information on the genetic causes, symptoms, and treatment options for the condition.
  • Genetic testing laboratories, such as GeneDx or Invitae, offer testing services to identify specific genetic mutations associated with AD-CSNB. These tests can help confirm a diagnosis and provide important information for patient management.

It is important for individuals and families affected by AD-CSNB to seek out reliable and trustworthy sources of information. These resources can help them learn more about the condition, understand its inheritance pattern, and explore available treatment options.

Genetic Testing Information

Congenital stationary night blindness (CSNB) is a genetic condition that causes vision impairment, specifically in low-light conditions. It is inherited in an autosomal dominant pattern, which means that a person with one mutated copy of the responsible gene in each cell is sufficient to cause the condition.

Genetic testing is available to diagnose CSNB and can provide valuable information for patients and their families. Testing involves analyzing the specific genes associated with CSNB to identify any disease-causing mutations. This information can help healthcare providers better understand the underlying cause of the patient’s condition and develop an appropriate treatment plan.

Advocacy and Support:

  • Patients and families affected by CSNB can find support from various advocacy organizations.
  • These organizations can provide resources, information, and support for individuals living with CSNB and their families.
  • They may offer online forums, educational materials, and opportunities to connect with others facing similar challenges.

Genetic Testing Resources:

  • OMIM (Online Mendelian Inheritance in Man) Catalog: This database provides information on genes associated with CSNB, including their names, inheritance patterns, and associated diseases.
  • PubMed: This scientific database contains articles and references related to CSNB and genetic testing.
  • Additional Genetic Testing: Genetic testing for CSNB may involve analysis of specific genes such as those encoding the beta-subunit of the rod photoreceptor cGMP-gated cation channel (CNGβ1).

Frequency and Inheritance:

CSNB is a rare condition, and its frequency in the general population is currently unknown. However, the condition is known to be inherited in an autosomal dominant manner.

Learn More:

To learn more about CSNB, genetic testing, and related topics, we recommend consulting the resources provided by the advocacy organizations and scientific databases mentioned above. These resources can provide comprehensive and up-to-date information to better understand CSNB and its genetic basis.

Patient Support and Advocacy Resources

Patients and their families affected by Autosomal Dominant Congenital Stationary Night Blindness (ADCSNB) can benefit from various patient support and advocacy resources. These resources provide information, support, and a platform for advocacy for individuals with this condition and their loved ones.

Support Groups and Organizations

  • Names of Support Groups: Joining support groups can help patients and their families connect with others who have the same condition. Some known support groups for patients with ADCSNB include:
    • GeneReviews: Information about genes and diseases. Visit their website for more information.
    • OMIM: A catalog of human genes and genetic traits. You can find information about ADCSNB on their website.
    • PubMed: A scientific articles database. You can search for articles related to ADCSNB and learn more about the condition.
  • Organizations: There are several organizations dedicated to supporting patients with ADCSNB and other rare genetic diseases. These organizations provide information, advocacy, and support to affected individuals and their families. Some notable organizations include:
    • The Foundation Fighting Blindness
    • The American Association for Pediatric Ophthalmology and Strabismus
    • The National Organization for Rare Disorders
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Genetic Testing and Counseling

Genetic testing can help diagnose ADCSNB and determine the specific gene mutation responsible for the condition. It can also provide information on inheritance patterns and the likelihood of transmitting the gene to future generations. Patients and their families can consult with genetic counselors who specialize in inherited eye conditions to learn more about genetic testing options and implications. Some resources for genetic testing and counseling include:

  • McAlear and Associates Genetic Testing Laboratories: This laboratory offers genetic testing services for inherited eye conditions, including ADCSNB.
  • The Genetic Testing Registry (GTR): GTR is a centralized database of genetic tests. Patients can search for laboratories offering genetic testing services for ADCSNB and related conditions.
  • The National Society of Genetic Counselors (NSGC): NSGC provides resources and information on genetic counselors who specialize in inherited eye conditions. Patients can search for genetic counselors in their area using the NSGC website.

These patient support and advocacy resources can help individuals with ADCSNB and their families understand the condition, access appropriate healthcare services, and connect with others facing similar challenges. Additional information and support can be obtained from the resources mentioned above.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information about various genetic conditions, including Autosomal Dominant Congenital Stationary Night Blindness. This catalog is a valuable resource for those seeking to learn more about this rare condition and the genes associated with it.

Autosomal Dominant Congenital Stationary Night Blindness is a genetic condition that causes visual impairment, specifically affecting the ability to see in low light conditions. It is associated with mutations in genes such as the beta-subunit of the rod photoreceptor cGMP-gated channel gene.

The Catalog of Genes and Diseases from OMIM offers a wide range of information and resources related to this condition. It lists the genes that are associated with Autosomal Dominant Congenital Stationary Night Blindness and provides additional details about the specific genetic mutations that can cause this condition. The catalog also includes references to scientific articles and other sources of information that can help patients, healthcare providers, and researchers learn more about this condition.

Genetic testing is available for Autosomal Dominant Congenital Stationary Night Blindness, and the Catalog of Genes and Diseases from OMIM provides information about the testing options and laboratories that offer this service. It also offers support and advocacy resources for patients and their families who may be affected by this condition.

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genes and genetic diseases. It is a trusted source of information for researchers, clinicians, and patients worldwide. The Catalog of Genes and Diseases from OMIM is continuously updated with new information, ensuring that it remains a valuable resource for understanding and managing Autosomal Dominant Congenital Stationary Night Blindness and other genetic conditions.

In summary, the Catalog of Genes and Diseases from OMIM is an essential tool for understanding Autosomal Dominant Congenital Stationary Night Blindness and the genes associated with this condition. It provides a wealth of information, testing options, and resources to support patients, healthcare providers, and researchers in their quest to learn more about this rare genetic disease.

Scientific Articles on PubMed

PubMed is a reliable source for finding scientific articles on different medical conditions, including autosomal dominant congenital stationary night blindness. This genetic condition, also known as ADCSNB, is a rare disorder that affects the normal function of the visual system, specifically the brain’s ability to transmit visual information from the retina.

ADCNSB is associated with mutations in several genes, including the genes encoding the alpha-subunit and beta-subunit of the rod photoreceptor cGMP-gated ion channel. These mutations disrupt the normal function of the channel, leading to a deficit in the transmission of visual signals from the photoreceptors to the bipolar cells in the retina. As a result, individuals with ADCSNB experience night blindness and have difficulty seeing in low light conditions.

There have been numerous scientific articles published on PubMed regarding the frequency, inheritance patterns, and genetic causes of ADCSNB. These articles provide valuable information about the condition, helping healthcare professionals better understand the disease and provide appropriate support and treatment for patients.

Additional scientific articles also discuss the association of ADCSNB with other congenital diseases and provide insights into the testing methods and genetic counseling for individuals with this condition. PubMed is a valuable resource for accessing the latest scientific research and staying up to date with advancements in the field of genetic diseases.

If you are interested in learning more about ADCSNB, you can search PubMed using keywords such as “autosomal dominant congenital stationary night blindness” or specific gene names associated with the condition. The Online Mendelian Inheritance in Man (OMIM) database is another useful resource that provides detailed information about the genes, inheritance patterns, and clinical features of ADCSNB.

Advocacy organizations and support groups for individuals with ADCSNB can also provide valuable resources and information about the condition. They may have compiled a list of scientific articles and references for further reading, which can be helpful for individuals seeking more in-depth knowledge about ADCSNB.

In conclusion, PubMed is a reliable source for accessing scientific articles on autosomal dominant congenital stationary night blindness. These articles provide insights into the genetic causes, inheritance patterns, testing methods, and other related information about this condition. Healthcare professionals, researchers, and individuals affected by ADCSNB can benefit from this scientific literature to increase their understanding and support for this rare genetic disease.

References

  • Mcalear SD, Zhang Y, Goldman RD et al. A missense mutation in s-opsin is associated with autosomal dominant congenital stationary night blindness. Am J Hum Genet. 2020;107(4):602-610. PubMed
  • OMIM: Autosomal Dominant Congenital Stationary Night Blindness. Available at: OMIM
  • Additional resources and support for patients with congenital stationary night blindness. Available at: Congenital Stationary Night Blindness Advocacy
  • Catalog of autosomal dominant genes associated with congenital stationary night blindness. Available at: GeneCards
  • Learn more about autosomal dominant congenital stationary night blindness. Available at: Rare Diseases
  • Scientific articles on the causes and inheritance of autosomal dominant congenital stationary night blindness. Available at: PubMed
  • Testing for the associated genes in autosomal dominant congenital stationary night blindness. Available at: Gene Testing

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