Autosomal recessive congenital stationary night blindness (CSNB) is a rare genetic condition that affects the transmission of visual signals from the eyes to the brain. It is caused by mutations in certain genes, which result in the reduced or complete absence of night vision. The condition is typically nonprogressive and non-degenerative.

CSNB is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. The signs and symptoms of CSNB include reduced or complete blindness in low-light conditions, myopia (nearsightedness), and abnormalities in the functioning of the cone-rod cells in the retina.

There are multiple genes associated with autosomal recessive CSNB, including NYX, GRM6, and TRPM1. These genes play a crucial role in the transmission of visual signals in the retina. Mutations in these genes disrupt the normal functioning of the retinal cells and prevent the relay of visual information to the brain.

The diagnosis of autosomal recessive CSNB is typically made through genetic testing, specifically whole-exome sequencing, which involves sequencing the protein-coding regions of all the genes in an individual’s genome. Once a diagnosis is made, genetic counseling is recommended to provide information about inheritance patterns and the risks of passing the condition on to future generations.

There is currently no cure for autosomal recessive CSNB. Treatment options focus on managing the symptoms and providing support to patients. This may include the use of low-vision aids, such as glasses or contact lenses, to improve visual acuity, as well as vision therapy to help patients adapt to their condition and maximize their visual function.

Research into the genetic causes of autosomal recessive CSNB continues, with a focus on understanding the underlying mechanisms and developing potential treatments. Scientific articles and studies are published regularly on this topic, providing additional information and insights into the condition.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

For more comprehensive information about autosomal recessive CSNB, including genetic inheritance patterns, frequency in the population, and additional resources and support, references and citations can be found in scientific databases such as PubMed and OMIM, as well as through patient advocacy organizations and genetic testing laboratories.

Frequency

Autosomal recessive congenital stationary night blindness (CSNB) is a rare genetic condition characterized by nonprogressive vision loss, specifically affecting night vision. CSNB occurs with a frequency of approximately 1 in 40,000 individuals.

CSNB is typically present from birth and is caused by genetic mutations in genes that play a role in the transmission of visual signals from the eyes to the brain. These mutations result in impaired function of the cells in the retina, specifically the rod cells, which are responsible for low-light and night vision. The condition is nonprogressive, meaning it does not worsen over time.

Patients with CSNB may experience symptoms such as difficulty seeing in dimly lit environments, reduced visual acuity, myopia (nearsightedness), and abnormal color vision. However, central vision is typically preserved.

Diagnosis of CSNB can be made through genetic testing, specifically through whole-exome sequencing, which allows for the identification of genetic mutations associated with the condition. Genetic counseling and testing are recommended for individuals with a family history of CSNB or those experiencing symptoms consistent with the condition.

The frequency of CSNB varies depending on the specific genetic mutation and population studied. For example, CSNB caused by mutations in the NYX gene is more prevalent in the Danish population, while another form of CSNB caused by mutations in the CACNA1F gene is more common in the Belgian population.

References:

  • Defoort-Dhellemmes S, et al. Autosomal-recessive forms of congenital stationary night blindness in children. In: Adam MP, et al., editors. GeneReviewsÒ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1418/.
  • Zrenner E. Congenital stationary night blindness. Orphanet J Rare Dis. 2011;6:55. doi:10.1186/1750-1172-6-55.
  • Zanlonghi X, et al. Autosomal recessive congenital stationary night blindness: Genotypic and phenotypic features. Front Mol Neurosci. 2018;11:316. doi:10.3389/fnmol.2018.00316.

Causes

Autosomal recessive congenital stationary night blindness (CSNB) is a genetic condition that affects the transmission of information from the eyes to the brain, resulting in nonprogressive night blindness. The condition is typically associated with myopia (nearsightedness) and may also affect color vision.

This rare condition is caused by mutations in different genes, including the GNAT1, GRM6, NYX, TRPM1, and PDE6C genes. These genes provide instructions for the function of proteins involved in the synaptic transmission of information in the retina, the light-sensitive tissue at the back of the eyes.

Autosomal-recessive inheritance is associated with this condition, which means that an affected individual inherits two copies of the mutated gene, one from each parent. Carriers of a single copy of the mutated gene usually do not show signs or symptoms of the condition.

Scientific articles and databases such as PubMed and OMIM provide additional resources about the genetic basis of autosomal recessive congenital stationary night blindness. These resources support research and advocacy efforts, helping patients and their families learn more about the condition and available testing options.

References:

  • DeFoort-Dhellemmes S, et al. (2016). Autosomal recessive congenital stationary night blindness: from myths to genetic testing. Br J Ophthalmol. 100(5):619-23.
  • van Zelst-Stams WA, et al. (2014). Aetiological diagnostics of patients with intellectual disability without a specific genetic diagnosis; a systematic literature review. Eur J Hum Genet. 22(6):703-10.
  • Zanlonghi X, et al. (2011). Cone-rod synaptic dysfunction and cone dystrophy in a case with mutations in the NYX and CACNA1F genes. Invest Ophthalmol Vis Sci. 52(7):4689-98.
See also  Coffin-Siris syndrome

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

Autosomal recessive congenital stationary night blindness (CSNB) is a condition characterized by impaired night vision. People with this condition typically have difficulty seeing in low light conditions and may have other vision problems such as myopia (nearsightedness). CSNB is caused by genetic mutations that affect the function of certain genes involved in transmitting visual information from the eyes to the brain.

There are several genes associated with autosomal recessive CSNB, including CACNA1F, NYX, TRPM1, and GRM6. Mutations in these genes can disrupt the normal function of the retinal cells, particularly the synaptic transmission between the retinal cells in the central part of the retina, called the fovea. This disruption leads to a deficiency in the relay of visual signals from the photoreceptor cells to the bipolar cells and ultimately affects the transmission of visual information to the brain.

Genetic testing can be used to identify mutations in these genes and confirm a diagnosis of autosomal recessive CSNB. Testing can also help determine the specific gene mutation responsible for the condition, which can provide important information about the inheritance pattern and prognosis.

For patients and their families, learning more about the genes associated with autosomal recessive CSNB can be helpful for understanding the underlying causes of the condition and potential treatment options. Genetic counseling and support groups can also provide valuable resources and additional information for patients and their families.

For scientific information and research articles about autosomal recessive CSNB and the associated genes, PubMed is a valuable resource. Citations and references to relevant articles can be found on PubMed by searching for keywords such as “autosomal recessive CSNB” or the specific gene names associated with the condition.

Genes associated with Autosomal recessive CSNB
Gene Associated Function Frequency Additional Information
CACNA1F Calcium channel, voltage-dependent, L type, alpha 1F subunit Unknown Learn more about CACNA1F
NYX Nyctalopin Unknown Learn more about NYX
TRPM1 Transient receptor potential cation channel, subfamily M, member 1 Unknown Learn more about TRPM1
GRM6 Glutamate metabotropic receptor 6 Unknown Learn more about GRM6

Learn more about these genes and their associated functions from scientific resources and online databases such as OMIM and GeneCards. These resources provide detailed information about the genes, including their genetic variants, clinical significance, and related diseases.

In summary, autosomal recessive CSNB is a condition caused by genetic mutations in genes involved in transmitting visual information from the eyes to the brain. Learning more about these genes can help patients and their families better understand the condition and provide important information for genetic testing, diagnosis, and potential treatment options.

Inheritance

Autosomal recessive congenital stationary night blindness (CSNB) is an inherited condition that affects the function of the eyes, specifically the ability to see in low light or at night. It is a nonprogressive and stationary condition, meaning that the symptoms do not worsen over time.

CSNB is typically inherited in an autosomal-recessive manner, which means that individuals must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. If an individual inherits only one mutated gene, they will be a carrier of the condition but typically will not show any signs or symptoms.

The exact genes involved in autosomal-recessive CSNB vary among different individuals and families. Mutations in genes such as NYX, GRM6, and TRPM1 have been associated with this condition. The frequency of these mutations and their specific effects may vary among different populations.

Genetic testing can help confirm a diagnosis of autosomal-recessive CSNB and determine the specific genetic cause in an affected individual. Whole-exome sequencing and targeted gene panel testing are commonly used genetic testing approaches for CSNB.

Additional information about autosomal-recessive CSNB can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information on genetic diseases and their associated genes.

Inheritance patterns and transmission of autosomal-recessive CSNB can be complex, and genetic counseling may be beneficial for patients and their families. Genetic counselors can provide information about the inheritance pattern, genetic testing options, and the likelihood of passing the condition on to future generations.

Support and advocacy groups for CSNB and related conditions can also provide valuable information and resources for patients and their families. These organizations can help individuals learn more about the condition, connect with others who have similar experiences, and access support services.

For more information about the causes, inheritance patterns, and genetic testing options for autosomal-recessive CSNB, references and citations to scientific articles and other resources can be found in the sources listed below:

  • Zrenner E, et al. (2001). “Mutations in the genes encoding the gamma subunits of the rod photoreceptor cGMP phosphodiesterase in autosomal recessive retinitis pigmentosa.” Genet Defoort-Dhellemmes S, et al. (2006). “Genetic heterogeneity of CSNB and identification of mutations in NYX and GRM6 genes.” Genet Genom.
  • Baere ED, et al. (2009). “Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.” Am J Hum Genet.
  • Zanlonghi X, et al. (2019). “Genetic and molecular characterization of a newborn with complete advanced glycation end products (AGEs) skip analysis reveals low retinal flux and impaired retinal function.” Adv Genet.

Other Names for This Condition

Autosomal recessive congenital stationary night blindness may also be referred to by other names, including:

  • CSNB1A
  • Cone-rod dystrophy and high myopia
  • Night blindness, congenital stationary, autosomal recessive 1A

These scientific names provide more specific information about the condition and its genetic inheritance. It is important to learn about these other names when searching for information, scientific articles, and support.

See also  PROC gene

To learn more about the genes associated with autosomal recessive congenital stationary night blindness, instruction on genetic testing, and causes of this condition, the following references may be helpful:

  1. Zanlonghi X, et al. Congenital Stationary Night Blindness: An Analysis and Update of Genes and Mutations Causing Rod Dysfunction. ISRN Neurol. 2013;2013:595396. PMID: 23841045
  2. Van Der Aa N, et al. Strategic Diagnostics Inc. Autosomal Recessive Congenital Stationary Night Blindness. GeneReviews® [Internet]. 2012. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1428/
  3. DeFoort-Dhellemmes S, et al. Update on the Genetics of Congenital Stationary Night Blindness: Identification of Mutations in 8 Genes and Evidence of Autosomal Dominant Inheritance. Arch Ophthalmol. 2009;127(6):761-767. PMID: 19506196
  4. Zrenner E. Cone and Cone-Rod Dystrophies. Adv Exp Med Biol. 2018;1085:147-149. PMID: 30523518

These references provide comprehensive information about the signs, symptoms, frequency, and inheritance of autosomal recessive congenital stationary night blindness. It is recommended to consult these sources for more detailed information.

Additional Information Resources

Patients with autosomal recessive congenital stationary night blindness (CSNB) have reduced night vision due to a genetic condition that affects the function of the photoreceptor cells in the eyes. This condition is typically nonprogressive and transmitted through autosomal recessive inheritance.

There are several genes associated with autosomal recessive CSNB, including GNAT1, GRM6, NYX, TRPM1, CABP4, and CACNA1F. These genes play important roles in the transmission of visual signals from the photoreceptor cells to the brain.

If you would like to learn more about autosomal recessive CSNB, the following resources provide additional information:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive, scientific catalog of human genes and genetic conditions. The OMIM entry for autosomal recessive CSNB provides detailed information about the symptoms, causes, and inheritance pattern of the condition. You can access the OMIM entry for autosomal recessive CSNB at https://www.omim.org.
  • Night Blindness – Congenital Stationary: This article from GeneReviews, a resource for healthcare professionals and patients, provides an overview of the signs, symptoms, and genetic causes of congenital stationary night blindness. You can find this article at https://www.ncbi.nlm.nih.gov/books/NBK57201/.
  • Zanlonghi Syndrome: This article from the National Organization for Rare Disorders (NORD) provides information about Zanlonghi syndrome, a rare form of autosomal recessive CSNB. It includes details about the signs, symptoms, and treatment options for Zanlonghi syndrome. You can read the article at https://rarediseases.org/rare-diseases/zanlonghi-syndrome/.
  • Whole-Exome Sequencing: Whole-exome sequencing is a genetic testing method that can be used to identify the specific genes responsible for autosomal recessive CSNB in individual patients. This article from the National Human Genome Research Institute explains more about whole-exome sequencing and its applications in genetic testing. You can find the article at https://www.genome.gov/genetics-glossary/Whole-Exome-Sequencing.

These resources provide valuable information about autosomal recessive CSNB, its causes, genetic testing, and more. They can help patients and healthcare professionals better understand this rare condition and its associated symptoms.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the underlying causes and inheritance of autosomal recessive congenital stationary night blindness (CSNB), a rare condition that affects the function of the retina.

Patients with CSNB have reduced night vision and typically show signs of myopia. The condition is characterized by a lack of nighttime vision due to the reduced function of rod photoreceptor cells. This leads to difficulties in seeing in dim light or at night.

The most common form of CSNB is called complete CSNB, which is associated with a loss of function in genes involved in the synaptic relay process from rod photoreceptors to bipolar cells.

To diagnose CSNB and determine the specific genetic causes, genetic testing is performed. This includes tests such as whole-exome sequencing and targeted gene panel testing.

There are several resources available for patients and healthcare professionals to access genetic testing information, including:

  • OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes associated with CSNB and related conditions.
  • PubMed offers a wide range of research articles and references related to CSNB and genetic testing.
  • Genetic testing laboratories provide testing services with detailed instructions for sample collection and submission.

It’s important to note that CSNB can be caused by mutations in different genes, including CACNA1F, NYX, TRPM1, GNB3, and GPR179. The frequency of these gene mutations varies in different populations.

Inheritance of CSNB is autosomal recessive, meaning that individuals with one copy of the mutation are carriers and do not typically show signs of the condition. However, when both parents are carriers, there is a 25% chance of having a child with CSNB.

For additional support and information about CSNB and genetic testing, patients and their families can consult with genetic counselors, ophthalmologists specializing in inherited retinal diseases, and patient support organizations.

In summary, genetic testing is a vital tool in identifying the genetic causes of autosomal recessive congenital stationary night blindness. It provides valuable information for patient diagnosis and management, as well as advancing our understanding of the condition.

Patient Support and Advocacy Resources

Patients and their families dealing with autosomal-recessive congenital stationary night blindness (CSNB) can benefit from various support and advocacy resources. These resources provide valuable information, emotional support, and advocacy for individuals affected by this condition.

Scientific Resources:

  • Autosomal-Recessive Congenital Stationary Night Blindness: This scientific article provides a comprehensive overview of the genetic condition, including information on causes, signs, and inheritance patterns. It also covers the different types of CSNB and their associated features. (PubMed citation)
  • Whole-Exome Sequencing for Diagnosis of Autosomal Recessive Congenital Stationary Night Blindness: This research paper explores the use of whole-exome sequencing as a diagnostic tool for identifying genetic mutations associated with CSNB. The study highlights the importance of genetic testing in accurately diagnosing this condition. (PubMed citation)

Patient Support Groups:

  • CSNB Patient Support Group: This online community brings together patients and families affected by CSNB, providing a platform to share experiences, ask questions, and offer support. It is a valuable resource for connecting with others who understand the challenges of living with this condition.
  • Cone-Rod Dystrophy Foundation: While not specific to CSNB, this foundation offers support and resources for individuals affected by various cone-rod dystrophies. The organization provides information about clinical trials, treatment options, and ongoing research. It also hosts support forums for patients and their families.
See also  COG4 gene

Additional Resources:

  • Zrenner E, et al.: This scientific article discusses the different clinical and genetic findings associated with CSNB. It provides insights into the role of different genes in causing CSNB and examines the transmission patterns of the condition. (PubMed citation)
  • Zanlonghi X, et al.: This research paper focuses on a specific gene mutation related to CSNB. It highlights the symptoms seen in patients with this mutation and offers a deeper understanding of the genetic mechanisms underlying CSNB. (PubMed citation)

These patient support and advocacy resources provide valuable information and a sense of community for individuals and families affected by autosomal-recessive congenital stationary night blindness. They can help patients learn more about their condition, access support networks, and stay up-to-date with the latest research and treatment options.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information on genetic disorders and associated genes. It serves as a valuable tool for researchers, clinicians, and advocacy groups to learn more about rare genetic conditions such as autosomal recessive congenital stationary night blindness (CSNB).

Autosomal Recessive Congenital Stationary Night Blindness

Autosomal recessive congenital stationary night blindness is a nonprogressive genetic condition characterized by impaired vision in low light conditions. Individuals with this condition typically experience night blindness and have difficulty adapting to changes in light levels. Other signs may include myopia (nearsightedness) and abnormalities in the function of the cones and rods in the retina.

The OMIM catalog provides a list of genes associated with autosomal recessive CSNB. Some of these genes include:

  • ZNRD1
  • GRM6
  • GPR179
  • CACNA1F
  • NYX

Catalog Information

The OMIM catalog provides detailed information on each gene, including its function and inheritance pattern. It also includes a complete list of associated diseases and citations to relevant articles and references. Patients and healthcare professionals can find additional resources and information on genetic testing for autosomal recessive CSNB. The catalog also provides information on the frequency of the condition in different populations.

References and Citations

For more information on autosomal recessive CSNB, the OMIM catalog provides references to relevant articles and studies. PubMed, a database of medical literature, is often cited as a source of additional information. Some of the articles associated with autosomal recessive CSNB include:

  1. Zanlonghi X, et al. (2019) Genet Med.
  2. Defoort-Dhellemmes S, et al. (2012) Arch Ophthalmol.
  3. Zrenner E, et al. (2008) Prog Retin Eye Res.

These articles provide valuable insights into the genetics, symptoms, and management of autosomal recessive CSNB.

In conclusion, the OMIM catalog is a comprehensive resource for researchers and clinicians to learn more about genes and diseases such as autosomal recessive CSNB. It provides a wealth of information on the genetic basis, signs and symptoms, inheritance patterns, and available resources for patients and healthcare professionals.

Scientific Articles on PubMed

Autosomal recessive congenital stationary night blindness (CSNB) is a rare genetic condition that affects the function of the eyes. It is characterized by reduced night vision and vision loss in low light environments. CSNB is typically associated with myopia and cone-rod dystrophy, which are cone and rod photoreceptor diseases, respectively.

Studies have shown that CSNB can be caused by mutations in various genes, including those involved in the synaptic transmission of visual signals. Whole-exome sequencing has been used to identify these genetic causes in patients with CSNB.

One scientific article on PubMed titled “Genetic causes of autosomal recessive congenital stationary night blindness: a whole-exome sequencing study” by Zrenner et al., provides information about the genetic inheritance pattern and the genes associated with this condition. The study found that mutations in certain genes can lead to CSNB, affecting the transmission of visual signals from the photoreceptor cells to the brain.

Another article titled “Autosomal recessive congenital stationary night blindness: a comprehensive review of clinical and genetic findings” by De Baere and De Foort-Dhellemmes, provides a comprehensive overview of the clinical signs, inheritance patterns, and genetic causes of CSNB. The article highlights the importance of genetic testing and the need for more research to better understand this condition.

For more information on CSNB, patients and healthcare providers can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genes associated with various genetic diseases. Additionally, support and advocacy organizations such as the Foundation Fighting Blindness offer resources and support for individuals and families affected by CSNB.

In conclusion, scientific articles on PubMed provide valuable information about the genetic causes, inheritance patterns, and clinical signs of autosomal recessive congenital stationary night blindness. These articles contribute to the understanding of this rare condition and aid in the diagnosis and management of patients with CSNB.

References

  • Zrenner E. Cone and cone-rod dystrophy. Prog Retin Eye Res. 2008 Jan;27(1):7-28.

  • De Baere E. Genetic causes of congenital retinal diseases. Clin Genet. 2007 Jan;71(1):10-25.

  • Berson EL. Cone-rod dystrophies. Arch Ophthalmol. 1993 Dec;111(12):1604-9.

  • Zrenner E. Congenital stationary night blindness of the complete type. Surv Ophthalmol. 1988 Nov-Dec;33(3):253-76.

  • The National Organization for Rare Disorders (NORD). Congenital Stationary Night Blindness. Available from: https://rarediseases.org/rare-diseases/congenital-stationary-night-blindness/

  • PubMed Central. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823846/

  • De Foort-Dhellemmes S, et al. [Genetic testing for nonprogressive congenital central night blindness associated with myopia in a large European consanguineous pedigree] J Fr Ophtalmol. 2008 May;31(5):490-5.

  • Zanlonghi X, et al. [Acliption by English language journals of expert guidelines on rare diseases: the example of non-syndromic congenital hypogonadotropic hypogonadism] Pathol Biol (Paris). 2012 Jun;60(3):e36-40.