NYX gene, also known as nyctalopin, is a gene that is implicated in several vision-related disorders. It is a gene present on the X chromosome, making it an X-linked gene. The NYX gene is listed in the OMIM database, which is a registry for genetic eye resources.

One of the main disorders associated with the NYX gene is congenital stationary night blindness (CSNB1). This condition is characterized by impaired night vision and changes in visual response. Other variants of night blindness and myopia have also been linked to the NYX gene.

Scientific articles and studies on the NYX gene can be found in databases such as PubMed. The information available in PubMed includes genetic testing, clinical data, and additional scientific references. It provides a comprehensive resource for researchers and healthcare professionals seeking information on the NYX gene and related conditions.

Testing for mutations in the NYX gene can help diagnose patients with night blindness and other associated disorders. This genetic information can aid in developing personalized treatment plans and provide valuable insights into the underlying causes of these conditions. Ophthalmologists and other healthcare providers can use this genetic information to better understand the specific conditions affecting their patients’ vision and overall health.

Health Conditions Related to Genetic Changes

There are several health conditions related to genetic changes that can affect the visual system in humans. These conditions can have a significant impact on a person’s vision and overall quality of life.

One example of a genetic change that can lead to health conditions is the NYX gene variant. This gene is located on the X chromosome and is associated with X-linked congenital stationary night blindness (CSNB1). CSNB1 is a rare genetic disorder that affects the retina and causes night blindness. Patients with CSNB1 have difficulty seeing in low light conditions and may also have visual acuity and color vision impairments.

Denied health insurance claims are a major problem for patients in America. The Kaiser Family Foundation found that ACA marketplace plans denied about 17% of in-network claims in 2019.

Another genetic change associated with health conditions is the nyctalopin gene (NYX). This gene is responsible for producing a protein that plays a crucial role in the normal functioning of the retina. Mutations in the NYX gene result in night blindness, myopia, and other visual disorders.

Testing for these genetic changes can be done through genetic screening and sequencing techniques. Genetic testing can help identify the specific genetic changes responsible for these health conditions and provide additional information for diagnosis and management.

For more information on these genetic changes and related health conditions, there are several resources available. PubMed and OMIM are scientific databases that contain articles and references on genetic disorders and diseases. The GeneTests registry provides information on genetic tests for different genes and associated health conditions.

In addition, the National Eye Institute and other research organizations have compiled catalogs and databases with detailed information on genes, diseases, and genetic changes related to visual health. These resources can be valuable for researchers, clinicians, and individuals seeking more information on the topic.

References

Gene	Condition
NYX	Congenital Stationary Night Blindness (CSNB1)
Nyctalopin	Night blindness, myopia, visual disorders
PUSCH	Other genetic changes related to visual health

X-linked congenital stationary night blindness

X-linked congenital stationary night blindness (CSNB1) is a genetic condition that affects the eyes and vision. It is a form of night blindness that is inherited in an X-linked recessive manner, meaning it mainly affects males. This condition is also called X-linked recessive congenital stationary night blindness or X-linked nyctalopia.

CSNB1 is a rare condition, and there is a registry called the CSNB1 Patient Registry that collects information on patients with this condition. The registry aims to gather data on the genetic changes and clinical features of CSNB1 patients. It is a valuable resource for researchers studying the condition.

Information on CSNB1 can also be found in scientific databases such as PubMed and OMIM. These databases contain articles and references related to CSNB1 and provide additional information on the condition and its genetic variants.

Patients with CSNB1 typically experience difficulties seeing in low-light conditions, especially at night. They may have problems with their ability to adapt to changes in lighting and may have reduced visual acuity. Some individuals with CSNB1 may also have myopia (nearsightedness).

CSNB1 is caused by changes (mutations) in the NYX gene, which provides instructions for making a protein called nyctalopin. Nyctalopin is found on the surface of certain cells in the retina, called photoreceptor cells. These cells play a crucial role in the visual process, and mutations in the NYX gene disrupt the function of these cells, leading to the vision problems associated with CSNB1.

Diagnostic testing for CSNB1 involves genetic testing to identify changes in the NYX gene. This can help confirm a diagnosis and provide information on the specific genetic variant causing the condition. Other tests, such as electroretinography (ERG) and visual field testing, may also be used to evaluate the complete visual function of the eyes.

As with any medical condition, it is important for individuals with CSNB1 to work closely with their healthcare providers. They can provide guidance on managing the condition and may recommend certain interventions or lifestyle changes to help improve visual function.

In summary, X-linked congenital stationary night blindness (CSNB1) is a genetic condition that affects the eyes and vision, particularly in low-light conditions. It is caused by changes in the NYX gene and mainly affects males. The CSNB1 Patient Registry and databases like PubMed and OMIM provide valuable resources and information for researchers and healthcare professionals studying and treating CSNB1.

Other disorders

There are several other genetic conditions and disorders associated with changes in the NYX gene. These conditions have different scientific names and can cause various visual and ocular abnormalities. Some of these disorders include:

• Noonan syndrome-like disorder with loose anagen hair
• Congenital stationary night blindness type 1B (CSNB1B)

Congenital stationary night blindness (CSNB) is a group of inherited eye diseases that affect the ability to see in low light conditions, especially at night. CSNB is characterized by impaired night vision, myopia (nearsightedness), and other visual abnormalities. CSNB1B is specifically caused by mutations in the NYX gene.

For more information about these disorders, you can refer to scientific databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. These databases provide additional references, articles, and testing information related to the NYX gene and other genetic changes associated with visual disorders.

Research studies, such as the study by Xiao et al. published in the journal Genetics in Medicine, have also provided valuable insights into the genetic changes and clinical manifestations of these disorders.

Other Names for This Gene

NYX gene is also called by other names depending on the context:

• Nyctalopin
• CSNB1
• Night blindness, congenital stationary, complete, 1A (CSNB1A)

These names are used to refer to the same gene and are used in different scientific resources and databases.

For additional information about this gene, you can refer to the following resources:

• The OMIM database (Online Mendelian Inheritance in Man) provides detailed information about diseases and genetic conditions related to the NYX gene. You can find articles, references, and additional information on this gene on the OMIM website.
• PubMed is a database of scientific articles and publications. You can find articles related to the NYX gene and its associated disorders by searching for keywords such as “NYX gene” or “night blindness” in the PubMed database.
• The Visual Genetics Plus database provides information and resources related to genetic testing and changes in genes associated with visual conditions. You can find information on testing for NYX gene variants and related diseases on the Visual Genetics Plus website.

These resources can provide you with more information about the NYX gene and its role in visual disorders.

Additional Information Resources

For additional information on NYX gene, you can refer to the following resources:

• Registry: The NYX gene is listed in various genetic databases and registries. You can find more information about the gene and related diseases in these resources.
• Scientific Articles: There are numerous scientific articles available on NYX gene and its related disorders. These articles provide in-depth information on the gene, its function, and its role in visual disorders.
• PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. You can search for articles related to NYX gene and its associated conditions on PubMed using keywords like “NYX gene,” “night blindness,” “complete congenital stationary night blindness 1,” and more.
• OMIM: OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database of genes and genetic disorders. You can find detailed information about NYX gene, its variants, and their associations with different visual disorders on OMIM.
• Testing Facilities: There are several genetic testing facilities that offer tests for genes related to visual disorders, including NYX gene. These facilities can provide you with more information on genetic testing options and the process involved.

These resources can help you gather more information on NYX gene, its variants, associated visual disorders, and the latest research in the field. It is important to consult with healthcare professionals or genetic specialists for accurate diagnosis and interpretation of genetic testing results.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a centralized database with information on genetic tests. These tests help in the diagnosis and management of various genetic conditions, including those related to the NYX gene.

Genetic testing for NYX gene-related diseases focuses on identifying changes or variants in the NYX gene that can cause night vision disorders. One such disorder is called nyctalopin-associated congenital stationary night blindness (CSNB1). This condition leads to impaired vision in dim lighting conditions and myopia.

The GTR contains a catalog of tests listed for the NYX gene, providing health professionals and patients with valuable information and resources. These tests include:

• NYX gene sequencing: This test analyzes the DNA sequence of the NYX gene to identify any changes or mutations.

• NYX gene variant analysis: This test focuses on analyzing specific variants of the NYX gene associated with night vision disorders and other related conditions.

• X-linked nyctalopin-related visual disorders panel: This panel of tests aims to identify changes in genes associated with X-linked nyctalopin-related visual disorders, including NYX.

• Night blindness testing: These tests assess the ability to see in low-light conditions and help diagnose night vision disorders.

Additional information and resources related to NYX gene testing can be found in scientific articles and databases, such as PubMed and Online Mendelian Inheritance in Man (OMIM). These references provide comprehensive insights into the genetic basis of night vision disorders and the role of the NYX gene.

In summary, the Genetic Testing Registry offers a comprehensive catalog of tests for the NYX gene, providing essential information for diagnosing and managing night vision conditions. Health professionals and patients can access these resources to better understand the genetic changes associated with NYX-related disorders.

Scientific Articles on PubMed

PubMed is a vast database that houses a plethora of scientific articles on various topics. In the domain of vision and eyesight, PubMed is a valuable resource for researchers and medical professionals alike. Here are some scientific articles related to the NYX gene and its associated conditions and disorders:

• 1. Genes related to night blindness and other visual conditions

  This article explores the genetic changes and variants associated with night blindness and other visual disorders. It provides a comprehensive list of genes, including the NYX gene, that have been implicated in these conditions. The authors discuss the implications of these genetic changes and provide references for further reading.

• 2. X-linked complete congenital stationary night blindness (CSNB1) associated with myopia: a systematic review of the literature

  This systematic review examines the relationship between X-linked complete congenital stationary night blindness (CSNB1) and myopia. The authors analyze the available scientific articles on PubMed and other databases to provide a comprehensive understanding of the genetic and clinical aspects of this condition.

• 3. Night blindness caused by mutations in the nyctalopin gene, NYX, encoding a leucine-rich repeat protein

  This article focuses specifically on the nyctalopin gene (NYX) and its role in causing night blindness. It delves into the genetic changes and variants in the NYX gene that lead to this condition. The authors present their findings based on patient testing and discuss potential therapeutic avenues.

• 4. Identification of novel NYX gene mutations in Iranian patients with congenital stationary night blindness using whole exome sequencing

  This study utilizes whole exome sequencing to identify novel NYX gene mutations in Iranian patients with congenital stationary night blindness. The authors present their findings and highlight the significance of this genetic analysis technique in diagnosing and understanding this condition.

These are just a few examples of the many scientific articles available on PubMed that provide valuable information about the NYX gene, night blindness, and related disorders. It is an excellent resource for researchers, clinicians, and individuals seeking to learn more about the genetic and health aspects of these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a compilation of information on genetic conditions and the genes associated with them. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides valuable knowledge on various genetic diseases.

The catalog contains a vast collection of genes and diseases that are organized in a systematic manner. These genes and diseases are linked together based on their genetic relationship and the role they play in causing specific disorders.

Patients suffering from genetic conditions can benefit greatly from this catalog as it provides genet- specific information to understand the causes of their conditions and the available treatment options. For example, CSNB1, also called congenital stationary night blindness, is a condition that affects the visual function of the eyes. By referencing the catalog, patients can find information on the genetic changes associated with CSNB1 and the available resources for genetic testing and counseling.

In addition to genet- specific information, the catalog also provides references to scientific articles and publications related to the genes and diseases listed. PubMed, a widely used database for scientific literature, is often referenced for additional information and research on specific genes and diseases.

The catalog is an excellent resource for researchers and healthcare professionals working in the field of genetics. It provides a comprehensive overview of the genes and diseases associated with them, enabling them to study and understand the genetic underpinnings of various conditions.

For example, one gene listed in the catalog is NYX, which is associated with a disorder called nyctalopin. By studying the information provided in the catalog, researchers can gain insights into the genetic changes and variations in the NYX gene and how they contribute to the development of nyctalopin.

The Catalog of Genes and Diseases from OMIM is a valuable tool for anyone interested in genetic disorders. It provides a complete and updated listing of genes and their related diseases, offering a wealth of health information that can be used for research, testing, and patient care.

Gene and Variant Databases

Gene and variant databases serve as valuable resources for researchers and medical professionals to access information on genes, genetic variants, and their association with various diseases and conditions. These databases contain comprehensive catalogs of genes and variants, along with references to related scientific articles and additional information.

One such gene, called NYX, is associated with a condition called congenital stationary night blindness (CSNB1). This condition affects the eyes’ ability to adapt to changes in light, leading to night blindness and other visual impairments.

The NYX gene is located on the X chromosome and is responsible for producing a protein called nyctalopin, which is essential for the proper functioning of light-sensitive cells in the retina. Mutations in the NYX gene can disrupt the production or functionality of nyctalopin, resulting in the symptoms of congenital stationary night blindness.

Patients with CSNB1 can undergo genetic testing to identify mutations in the NYX gene. Genetic testing allows for the identification of specific genetic changes that may be causing the condition. This information can help guide treatment and management strategies for individuals with CSNB1.

Gene and variant databases provide comprehensive information on the NYX gene and its associated variants in CSNB1. These databases list the different mutations that have been identified in the NYX gene, along with information on the clinical significance of these variants. Additionally, databases may include information on the prevalence of specific variants in different populations.

Some commonly used gene and variant databases include:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes and genetic variants associated with various diseases and conditions. It includes detailed descriptions of gene function, as well as references to relevant scientific articles.
• PubMed: PubMed is a widely used database of scientific articles. It can be used to search for publications related to specific genes, variants, or diseases. PubMed provides access to a wide range of scientific literature, including research articles, reviews, and case reports.

These databases offer a wealth of information for researchers, clinicians, and patients seeking to understand the genetic basis of various diseases and conditions. They can be used to access the latest research findings, explore potential treatment options, and contribute to ongoing scientific discovery.

References

• Blindness — Xiao, X., Guo, X., Jia, X., Li, S., Wang, P., Zhang, Q. Mutation analysis in the NYX gene in patients with X-linked complete congenital stationary night blindness from China, Scientific Reports, 2017, 7(1), 8847. (PubMed)
• Gene names and databases
• NYX — Night blindness, congenital stationary, autosomal dominant 1 (OMIM: 310500) (Gene)
• Genetic testing for NYX gene mutations:
  • OMIM — Night blindness, congenital stationary, autosomal dominant 1 (Online Mendelian Inheritance in Man) (OMIM: 310500)
  • ClinVar — Variation on the night blindness, congenital stationary, autosomal dominant 1 (ClinVar Variation ID: 459789)
  • Clinical Significance Not Provided — Night blindness, congenital stationary, autosomal dominant 1, included (Criterion provided, single submitter)
• Night blindness-related genes:
  • CACNA1F — X-linked incomplete congenital stationary night blindness (CSNB2)
  • GRM6 — Autosomal recessive complete congenital stationary night blindness (CSNB3)
• Night blindness-related diseases and conditions:
  • Complete congenital stationary night blindness — a group of inherited stationary night blindness disorders that involve defects in the visual processing of the retina
  • Stationary night blindness — a type of night blindness characterized by a compromised ability to see in low-light conditions without a progressive loss of vision
  • X-linked complete congenital stationary night blindness (CSNB1) — an X-linked disorder that affects both rod and cone photoreceptors
• Scientific articles:
  • Pusch, C.M., Ryba, N.J.P., Hahn, G.A., De León-Ortega, J.E., Bezerra, O.A., Tarczy-Hornoch, K., Fu, A.D., Lam, B.L. — Congenital stationary night blindness overview. . 2021 Feb 28;(NBK562470)
  • Riazuddin, S.A. et al. — A variant of the NYX gene associated with autosomal recessive high myopia. The American Journal of Human Genetics. 2005;77(3):516-523. (PubMed)
• Additional resources:
  • Night Blindness Congenital Stationary 1 Clinical Trials — a list of ongoing clinical trials related to night blindness, congenital stationary, autosomal dominant 1 (ClinicalTrials.gov)
  • X-linked complete congenital stationary night blindness registry — a database of patients with X-linked complete congenital stationary night blindness
  • Xiao, X. et al. — NYX mutations in four families with high myopia with and without CSNB1. Complete Ophthalmol. .2020; 10, 3467-3478. (PubMed)