Choroideremia

Choroideremia is a rare genetic condition that primarily affects the cells in the retina.

It is caused by mutations in the CHM gene, also known as the REP-1 gene. The CHM gene provides instructions for making a protein that is involved in the transport of certain proteins within cells. Mutations in this gene result in the production of an abnormal protein or no protein at all, which leads to the progressive degeneration of the retina.

This condition has been well-documented in scientific literature, with numerous studies and references available on PubMed, a comprehensive catalog of scientific articles. The frequency of Choroideremia is estimated to be about 1 in 50,000 individuals.

Choroideremia affects the visual and clinical functions of affected individuals, leading to progressive vision loss and eventual blindness. There is currently no cure for Choroideremia, although there are ongoing research studies and clinical trials aiming to develop treatments for this condition.

For more information and resources on Choroideremia, the Choroideremia Research Foundation and the Choroideremia Research Center provide valuable support and advocacy for individuals affected by this rare genetic disease. They offer additional information on the condition, genetic testing, and inheritance patterns.

Learn more about Choroideremia and other rare genetic diseases through websites like OMIM (Online Mendelian Inheritance in Man), which provides in-depth information on genetic disorders and associated genes.

Frequency

Choroideremia is a rare genetic condition that affects the cells within the tissue of the choroid, a layer of blood vessels and connective tissue in the eye. According to studies and articles, the frequency of choroideremia is estimated to be approximately 1 in 50,000 to 1 in 100,000 individuals.

Choroideremia is inherited in an X-linked recessive manner, which means it mainly affects males. Females can also be carriers of the condition. The gene associated with choroideremia is the CHM gene, located on the X chromosome. Mutations in this gene result in the production of faulty REP-1 protein, which is essential for the normal function of cells in the choroid.

For more information on the frequency of choroideremia and its genetic causes, resources such as the Choroideremia Research Foundation (CRF), OMIM (Online Mendelian Inheritance in Man), and the National Center for Biotechnology Information (NCBI) can be consulted. The CRF provides support, advocacy, and resources for patients and families affected by choroideremia, while OMIM and NCBI offer scientific and clinical information on genetic diseases.

In addition, clinicaltrialsgov and PubMed are valuable sources for clinical trials, research studies, and articles on choroideremia. These resources can provide more information on the frequency of the condition, genetic testing, and potential treatments.

It is important to note that the frequency of choroideremia may vary within different populations and regions. For more specific information on the frequency of choroideremia in a particular country or population, further research may be required.

Learning more about the frequency and genetic causes of choroideremia can help improve understanding of this rare condition and support the development of new treatments and therapies.

Causes

The underlying cause of choroideremia is a genetic mutation. Choroideremia is caused by mutations in the CHM gene, which is located on the X chromosome. This gene provides instructions for making the Rab escort protein 1 (REP-1) and Rab escort protein 2 (REP-2) proteins, which are involved in the transport of other proteins within cells.

There are currently over 200 different mutations in the CHM gene that have been identified as causing choroideremia. These mutations can result in a deficiency or complete loss of the REP-1 protein, leading to the progressive degeneration of cells in the choroid, retina, and other tissues of the eye.

The inheritance pattern of choroideremia is X-linked recessive, which means that the condition primarily affects males. Females can also be carriers of the gene mutation and may experience mild symptoms or remain unaffected. In rare cases, females can be affected by choroideremia if they have two copies of the mutated gene.

Choroideremia is considered a rare disease, affecting approximately 1 in 50,000 to 100,000 individuals worldwide. However, the frequency may vary among different populations.

For more scientific information about the genetic causes of choroideremia, you can refer to articles and resources available on PubMed, OMIM, and other scientific databases. The Choroideremia Research and Advocacy Center also provides additional support and information about the condition.

ClinicalTrials.gov is another valuable resource for learning about ongoing research studies and clinical trials related to choroideremia. These studies aim to further understand the genetic and cellular mechanisms underlying the condition and develop potential treatments.

In summary, choroideremia is caused by mutations in the CHM gene, which lead to a deficiency or loss of REP-1 protein. This genetic condition primarily affects males and is inherited in an X-linked recessive pattern. Researchers and advocacy groups continue to explore the genetic and cellular causes of choroideremia to support further research and potential treatment options.

Learn more about the gene associated with Choroideremia

Choroideremia is a rare genetic condition that affects the visual system. It is caused by mutations in the CHM gene, which is located on the X chromosome.

The CHM gene provides instructions for making a protein called Rab escort protein 1 (REP-1). This protein is essential for the proper functioning of cells in the eye, specifically in the choroid and retina.

Within the CHM gene, there are different mutations that can occur. These mutations can result in the production of an abnormal REP-1 protein or no protein at all. The absence or dysfunction of REP-1 leads to the progressive degeneration of the choroid and retina, causing vision loss in individuals with Choroideremia.

To learn more about the CHM gene and the associated condition, there are several resources available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic diseases. It provides detailed information about the CHM gene, including the different mutations and their clinical manifestations.
  • Choroideremia Research Foundation (CRF): CRF is an advocacy and support organization for individuals and families affected by Choroideremia. They provide resources, support networks, and up-to-date information about research studies and clinical trials.
  • PubMed: PubMed is a scientific research database that contains articles and studies related to Choroideremia. Searching for keywords like “CHM gene” or “Choroideremia” will yield a wealth of information.

It is important for individuals with Choroideremia and their families to stay informed about the latest research and treatment options. By understanding the genetic basis of the condition, individuals can make informed decisions about genetic testing and potential interventions.

Inheritance

Choroideremia is a rare genetic condition inherited in an X-linked recessive pattern. This means that the condition is associated with the X chromosome and primarily affects males. Females can also be carriers of the condition but are typically unaffected.

Choroideremia is caused by mutations in the REP-1 gene. This gene is responsible for producing a protein that is essential for the normal function of cells in the retina, the light-sensitive tissue at the back of the eye. Mutations in the REP-1 gene result in the production of an abnormal copy or the absence of the protein, leading to the progressive loss of vision.

Genetic studies have identified various mutations in the REP-1 gene that are associated with choroideremia. These mutations can be detected through genetic testing, which analyzes an individual’s DNA for specific changes in the gene sequence.

Additional information about the inheritance and genetics of choroideremia can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other resources.

Research institutions and advocacy organizations are actively involved in studying choroideremia and supporting patients and their families. The Choroideremia Research Foundation, for example, provides resources, support, and funding for research aimed at finding treatments and a cure for choroideremia.

Clinical trials are also being conducted to evaluate potential treatments for choroideremia. Information about these trials can be found on websites such as ClinicalTrials.gov, which provides a catalog of ongoing research studies and their contact information.

Overall, the inheritance of choroideremia is a complex topic that requires further research and scientific understanding. By learning more about the genetic causes and mechanisms of this condition, researchers and clinicians hope to develop effective treatments and interventions to improve the visual outcomes for individuals with choroideremia.

Other Names for This Condition

Choroideremia is a rare genetic condition also known by several other names. These include:

  • Chromosomal 2q21-q22 deletion syndrome
  • Chromosome 2q21.2-q22.3 deletion syndrome
  • Chromosome 2q21.2-q22.3 microdeletion syndrome
  • Choroideremia of the Macdonald type
  • Rab escort protein 1 gene (REP1 gene)
  • Takata syndrome
  • TBCE-like chaperone disorder
See Also:  SF3B4 gene

These names reflect additional information about the genetic causes of the condition, as well as the associated tissue and visual changes.

The most common name, “Choroideremia,” is derived from the Latin words “choroid” (referring to the tissue layer in the eye) and “eremia” (meaning “to waste away”). This name highlights the specific visual impact of the condition, in which the choroid tissue gradually degenerates over time.

The scientific community and advocacy organizations have published numerous articles, studies, and resources to support patient and genetic research on Choroideremia. Some key resources include:

  • The Choroideremia Research Foundation (CRF) provides information, resources, and support for those with Choroideremia and their families. They also fund research and clinical trials to advance understanding and treatment of the condition.
  • The Online Mendelian Inheritance in Man (OMIM) catalog contains detailed information on the genetic causes and inheritance patterns of Choroideremia, as well as associated genes and proteins.
  • PubMed is a leading database of scientific literature, containing a wealth of published articles and studies on Choroideremia and related topics. It can be a valuable resource for researchers and healthcare professionals.
  • ClinicalTrials.gov is a registry of clinical trials, including those focused on testing new treatments or interventions for Choroideremia. It can provide information on ongoing or upcoming trials that patients may be eligible to participate in.

Individuals interested in learning more about Choroideremia and the latest scientific advancements can explore these resources for more information and support.

Additional Information Resources

  • Scientific Articles and Research Studies: The Choroideremia Research Foundation provides a catalog of scientific articles and research studies on choroideremia. These resources offer detailed information on the causes, genes, and inheritance patterns associated with this condition. The catalog can be accessed on their website.
  • Clinical Trials: For information on ongoing clinical trials related to choroideremia, visit clinicaltrials.gov. This database provides details on clinical trials, including recruiting status, trial locations, and eligibility criteria.
  • Support and Advocacy: The Choroideremia Research Foundation is a valuable resource for support and advocacy for individuals and families affected by choroideremia. They offer a variety of resources, including support groups, educational materials, and fundraising opportunities.
  • Additional References: To learn more about choroideremia, its symptoms, diagnosis, and treatment options, refer to the following sources:
    • OMIM (Online Mendelian Inheritance in Man): A comprehensive database on genetic conditions. Search for “choroideremia” to access more information.
    • PubMed: Search for “choroideremia” to find research articles on this condition. This database provides access to a wide range of scientific literature.
    • The Choroideremia Research Foundation’s website also offers additional resources and information on choroideremia.

Genes Associated with Choroideremia:

Choroideremia is associated with mutations in the CHM gene, which codes for REP-1 protein. This protein is important for the normal function of retinal pigment epithelial cells and photoreceptor cells in the eye. Mutations in the CHM gene lead to a deficiency in REP-1 protein, resulting in the progressive degeneration of these cells. The CHM gene is located on the X chromosome, which explains the genetic inheritance pattern of choroideremia.

In rare cases, choroideremia can also be associated with mutations in a gene called REP-2. These cases are classified as choroideremia-REP-2-associated.

Genetic Testing Information

Genetic testing is a crucial step in diagnosing and understanding a genetic condition such as Choroideremia. By analyzing the patient’s DNA, genetic testing can provide important information about the specific genetic changes that cause this condition.

Inheritance: Choroideremia is inherited in an X-linked recessive manner, which means that the gene mutation responsible for the condition is located on the X chromosome. Males are more commonly affected by Choroideremia, while females are usually carriers of the gene mutation.

Genetic Resources: There are several resources available for individuals seeking genetic testing for Choroideremia. These resources include genetic testing centers, research studies, and advocacy groups dedicated to supporting patients with this condition:

  • ClinicalTrials.gov – a database of ongoing clinical studies that may include genetic testing for Choroideremia
  • OMIM – a comprehensive catalog of human genes and genetic diseases, including Choroideremia
  • PubMed – a database of scientific articles with information about Choroideremia and related research

Genetic Testing Process: The genetic testing process for Choroideremia typically involves taking a small sample of the patient’s blood or other tissue. The DNA within these cells is then analyzed to identify any mutations in the CHM gene, which is associated with Choroideremia.

Clinical Trials: Participating in clinical trials can provide additional information about Choroideremia and opportunities for genetic testing. ClinicalTrials.gov is a valuable resource for finding ongoing studies related to Choroideremia.

Genes Associated with Choroideremia: The CHM gene, also known as the Rab escort protein 2 (REP-2) gene, is the primary gene associated with Choroideremia. Mutations in this gene can lead to the production of abnormal REP-2 proteins, causing the visual and clinical manifestations of Choroideremia.

Additional Information: For more information about genetic testing for Choroideremia, resources, and support for individuals and families affected by this condition, it is recommended to contact advocacy groups and genetic testing centers specializing in rare diseases.

Resources Information
Genetic Testing Centers Provide genetic testing services for Choroideremia.
Advocacy Groups Offer support and resources for individuals with Choroideremia.
Research Studies Contribute to the understanding of Choroideremia and may offer genetic testing opportunities.

It is important for individuals and families affected by Choroideremia to learn about the causes, genetic frequency, and available resources to make informed decisions about genetic testing and treatment options.

References:

  1. MacDonald, I. M. (2000). Choroideremia. ACMG/ASMG Guide to Clinical Genetics Evaluation of Ophthalmologic Disease.
  2. Research articles about Choroideremia can be found on PubMed using the search terms “Choroideremia genetics” and “Choroideremia gene.”

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource for rare genetic diseases. GARD provides information on the causes, frequency, inheritance, and associated genes of various rare genetic conditions, including Choroideremia.

GARD supports patients and their families by providing scientific and genetic information about rare diseases. The center offers resources such as articles, PubMed references, and additional research studies. GARD also provides information about genetic testing and clinical trials related to Choroideremia and other rare diseases.

Choroideremia is a rare genetic condition that affects the cells of the choroid and retina, leading to progressive vision loss. The condition is caused by mutations in the CHM gene, which provides instructions for making a protein called Rab escort protein 1 (REP-1).

Within the GARD catalog, you can learn more about Choroideremia and find resources on clinical trials, advocacy organizations, and support groups. GARD provides information on the latest research and scientific studies related to Choroideremia.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource within GARD. OMIM provides comprehensive information about the genetic basis and clinical features of various genetic diseases, including Choroideremia.

To find more information about Choroideremia, you can search for scientific articles on PubMed, using keywords such as “Choroideremia,” “genetic,” and “REP-2.” PubMed is a database of scientific publications that provides access to a vast collection of research articles.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare genetic diseases like Choroideremia. GARD provides support, scientific resources, and information on genetic testing and clinical trials, helping patients better understand and manage their condition.

Patient Support and Advocacy Resources

Choroideremia is a rare genetic condition associated with mutations in the CHM gene located on the X chromosome. It causes progressive vision loss, with symptoms typically appearing in childhood or early adulthood. Patients with Choroideremia may benefit from various support and advocacy resources that provide information, assistance, and resources related to the condition.

  • Choroideremia Research Foundation (CRF): The CRF is a patient advocacy organization dedicated to supporting research and finding a cure for Choroideremia. Their website offers comprehensive information about the condition, treatment options, and ongoing research studies. Additionally, they provide resources for patients and their families, including genetic testing information, support networks, and educational materials.
  • PubMed: PubMed is a database of scientific articles and studies. It can be a valuable resource for patients looking to learn more about Choroideremia and the latest research advancements. By searching for keywords such as “Choroideremia” or “CHM gene,” patients can access a wealth of scientific information to better understand their condition and stay informed about potential treatment options.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is an online catalog of human genes and genetic disorders. It provides information on the CHM gene, its associated diseases, and the inheritance patterns of Choroideremia. Patients can access detailed summaries, genetic testing information, and references to scientific articles related to Choroideremia on the OMIM website.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted worldwide. Patients with Choroideremia can visit the website to search for ongoing or upcoming clinical trials related to their condition. Participating in clinical trials may provide patients with access to experimental treatments and the opportunity to contribute to the advancement of Choroideremia research.
See Also:  ACAN gene

These resources, along with patient support networks and advocacy organizations, can help individuals with Choroideremia navigate their condition, connect with others facing similar challenges, and access the latest information and research advancements. It is important for patients to stay informed, engaged, and proactive in managing their condition and seeking the support they need.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding information about ongoing and completed research studies on various medical conditions, including choroideremia. These studies provide important insights into the causes, inheritance patterns, and potential treatments for this rare genetic disease.

Choroideremia is a rare genetic condition that affects the light-sensitive tissue at the back of the eye called the choroid. It is caused by mutations in the CHM gene, which provides instructions for making a protein called Rab escort protein 1 (REP-1). Rep-1 is involved in the transport of other proteins within cells, and its absence or dysfunction leads to the gradual degeneration of the choroid and retina, resulting in progressive vision loss.

In the search bar on ClinicalTrials.gov, you can enter keywords or specific criteria related to choroideremia to find relevant studies. Some of these studies focus on testing potential treatments or interventions to slow down or reverse the progression of the disease, while others aim to learn more about the genetic and cellular mechanisms underlying choroideremia.

Research studies on choroideremia listed on ClinicalTrials.gov may include information on the frequency of the condition, associated symptoms and complications, and the specific genes and genetic mutations involved. These studies can provide valuable insights into the natural history of the disease and help researchers develop new and more effective treatment strategies.

In addition to ClinicalTrials.gov, there are other resources available for learning more about choroideremia and its genetic basis. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic disorders, and associated clinical features. The Genetic Testing Registry (GTR) offers a comprehensive catalog of genetic tests for choroideremia and other rare diseases.

Scientific articles published in PubMed are another valuable source of information on choroideremia. These articles often provide in-depth analyses of the underlying genetic and cellular mechanisms, as well as clinical observations and treatment approaches. PubMed can be used to search for specific keywords related to choroideremia, such as gene names (e.g., CHM), proteins (e.g., REP-1), or specific scientific concepts.

For patients and advocacy groups interested in supporting choroideremia research, ClinicalTrials.gov can also provide information about ongoing clinical trials that are recruiting participants. Participating in a clinical trial can not only provide access to potential new treatments but also contribute to the advancement of scientific knowledge and the development of better therapies for choroideremia.

In summary, ClinicalTrials.gov is a valuable resource for finding information about ongoing and completed research studies on choroideremia and other rare genetic diseases. Additional resources such as OMIM and PubMed can provide more in-depth scientific information on the genetic basis and underlying mechanisms of choroideremia. Participating in clinical trials can provide opportunities for patients to access new treatments and contribute to scientific advancements in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive database of genetic conditions and associated genes. This catalog is a valuable resource for researchers, clinicians, and patient advocacy groups.

OMIM is a rare genetic condition that primarily affects the visual system. It is caused by mutations in the CHM gene, located on chromosome X. Choroideremia leads to progressive vision loss, starting with night blindness and peripheral vision loss, and eventually culminating in complete blindness. The disease primarily affects the retinal pigment epithelium and the choroid tissue.

The Catalog of Genes and Diseases from OMIM includes detailed information on the CHM gene and its associated condition, choroideremia. It provides references for additional articles, research studies, and clinical trials related to choroideremia. These resources can help researchers and clinicians learn more about the genetic causes, inheritance patterns, clinical features, and frequency of the disease.

In addition to the CHM gene, the Catalog of Genes and Diseases from OMIM contains information on other genes and genetic conditions. This comprehensive catalog allows users to search for specific genes or diseases and access relevant information, including inheritance patterns, associated proteins, and tissue expression.

For patients and their families, the Catalog of Genes and Diseases from OMIM can be a valuable tool for learning about the condition, understanding its genetic basis, and finding support resources. It provides information on patient advocacy groups, genetic testing options, and clinical trials available for choroideremia. Patients can also find information on ongoing research studies and connect with other individuals affected by choroideremia.

The Catalog of Genes and Diseases from OMIM is continuously updated with new information, research findings, and advancements in the field of genetic diseases. It serves as a centralized and reliable resource for researchers, clinicians, and patients seeking information on genetic conditions and associated genes.

Scientific Articles on PubMed

Diseases affecting the visual system are a significant concern for individuals and their families. Choroideremia is one such condition that has garnered attention in the scientific community. PubMed is an excellent resource to learn more about this rare disease.

The frequency of choroideremia in the general population is relatively low. However, it is essential for researchers, patients, and healthcare providers to have access to accurate information and resources regarding this condition. PubMed offers a comprehensive collection of scientific articles and studies on choroideremia, providing valuable insights into its causes, inheritance patterns, and clinical manifestations.

One notable gene associated with choroideremia is REP-2, located on the X chromosome. PubMed provides references to studies exploring the role of this gene in the development of the disease. These articles often discuss the functions, expression, and regulation of REP-2 in different tissue types, including retinal cells.

By utilizing PubMed, researchers can access additional scientific resources and stay up-to-date with the latest findings in the field of choroideremia. This information is critical for advancing our understanding of the disease, developing potential treatments, and improving patient care.

Furthermore, PubMed is a valuable tool for advocacy groups and patients seeking support and information on choroideremia. By searching for specific keywords on PubMed, such as “choroideremia advocacy” or “patient resources,” individuals can find articles and studies that discuss the experiences and challenges faced by those living with the condition.

In summary, PubMed provides a wealth of scientific articles on choroideremia, allowing researchers, healthcare providers, and patients to access valuable information and stay informed about this rare genetic condition. This platform offers a comprehensive catalog of studies and references, making it an indispensable resource for anyone interested in learning more about choroideremia.

For additional resources and clinical trials related to choroideremia, individuals can also visit websites like OMIM (Online Mendelian Inheritance in Man), where they can find more information about the genetic basis of the condition and potential treatment options. ClinicalTrials.gov is another useful resource for locating ongoing clinical trials and research studies focused on choroideremia.

References

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