Autosomal Dominant Vitreoretinochoroidopathy (ADVR) is a rare genetic condition that affects the retina, vitreous, and choroid. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to their children. ADVR is also known by other names in the scientific literature, including vitreoretinopathy, hereditary vitreoretinopathy, and familial exudative vitreoretinopathy.

ADVR typically causes vision problems that can range from mild to severe. The condition is often diagnosed in childhood or adolescence, although symptoms may not appear until adulthood. Common symptoms include decreased vision, floaters, and difficulty seeing in low light. In some cases, ADVR can also lead to retinal detachment, which is a medical emergency that requires immediate attention.

ADVR is caused by mutations in certain genes that are involved in the development and maintenance of the retina, vitreous, and choroid. There are several genes associated with ADVR, including FZD4, NDP, LRP5, and TSPAN12. Genetic testing can help confirm a diagnosis of ADVR by identifying mutations in these genes. Additionally, imaging tests such as optical coherence tomography (OCT) can provide additional information about the severity and progression of the condition.

Currently, there is no cure for ADVR. Treatment focuses on managing the symptoms and preventing complications such as retinal detachment. Regular eye exams are important for monitoring the condition and addressing any changes in vision. It is also important for individuals with ADVR to seek genetic counseling to learn more about the inheritance pattern and the risk of passing the condition on to their children.

For individuals and families affected by ADVR, there are resources and support available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes associated with ADVR and other related conditions. There are also advocacy organizations and support groups that can provide guidance and connect individuals with additional resources for ADVR.

References:

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– OMIM: Autosomal Dominant Vitreoretinochoroidopathy

– PubMed: Autosomal Dominant Vitreoretinochoroidopathy

Frequency

Autosomal dominant vitreoretinochoroidopathy is a rare genetic condition that affects the vitreous, retina, and choroid of the eye. It is inherited in an autosomal dominant manner, meaning that a person with one copy of the mutated gene from an affected parent has a 50% chance of inheriting the condition.

This condition is rare, and there are limited resources available on it. Scientific articles and patient support resources are available to learn more about the condition and its associated genes.

Genetic testing can be done to identify the specific gene mutations that cause autosomal dominant vitreoretinochoroidopathy. By identifying the genes involved, researchers can gain a better understanding of this rare condition and potentially develop targeted treatment options.

Additional information on autosomal dominant vitreoretinochoroidopathy, including affected genes, inheritance patterns, and clinical features, can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. This resource provides comprehensive information on various genetic diseases.

References:

  • OMIM: autosomal dominant vitreoretinochoroidopathy – https://www.omim.org/entry/193220

For more information and support on autosomal dominant vitreoretinochoroidopathy, you may also contact genetic counseling centers and advocacy organizations focused on rare eye diseases.

Causes

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic condition caused by mutations in certain genes. The condition is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

The exact cause of ADVIRC is not fully understood, but it is believed to be associated with mutations in genes involved in the development and function of the retina, vitreous, and choroid. Mutations in the BEST1 and PRPH2 genes have been identified in some individuals with ADVIRC.

ADVIRC is a rare disease, and the frequency of specific gene mutations in affected individuals is not well known. Genetic testing can be used to confirm a diagnosis of ADVIRC and to identify the specific gene mutation in an affected individual.

There is currently no cure for ADVIRC, and treatment focuses on managing symptoms and preserving vision. Regular eye exams and monitoring of retinal function are important for individuals with ADVIRC.

For more information about the causes of autosomal dominant vitreoretinochoroidopathy, you can visit the following resources:

  • OMIM – a catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles
  • Verywell Health – an advocacy website for rare diseases
See also  COQ8B gene

These resources can provide additional information on the genes associated with ADVIRC, the inheritance pattern of the condition, and more. They can also support individuals and families affected by ADVIRC by providing information, patient stories, and support networks.

Learn more about the gene associated with Autosomal dominant vitreoretinochoroidopathy

Autosomal dominant vitreoretinochoroidopathy (ADVR) is a rare genetic condition that affects the retina, vitreous, and choroid. It is caused by mutations in the gene associated with ADVR. This gene is responsible for the production of a protein that plays a crucial role in the structural integrity of the retina and its surrounding tissues.

For affected individuals, the condition can result in a wide range of symptoms, including progressive vision loss, retinal detachment, and abnormal growth of blood vessels in the retina. The severity of symptoms can vary from person to person, even among members of the same family.

ADVR is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. It is important for individuals with a family history of ADVR to undergo genetic testing to determine if they carry the mutated gene.

There are several resources available for individuals and families affected by ADVR. The OMIM database provides detailed information on the gene, including its frequency in affected populations and associated clinical features. Additionally, advocacy organizations such as the Vitreoretinochoroidopathy Advocacy and Support Center offer support and additional information on the condition.

Scientific articles and references on the gene associated with ADVR can be found on PubMed, a database of scientific publications. These articles provide valuable insights into the genetic basis of the condition and ongoing research efforts.

If you want to learn more about the gene associated with ADVR, it is recommended to consult these resources and stay updated on the latest research findings.

Inheritance

Autosomal dominant vitreoretinochoroidopathy is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. This indicates that the condition can affect both males and females, and each child of an affected parent has a 50% chance of inheriting the condition.

Additional information about the inheritance of autosomal dominant vitreoretinochoroidopathy can be found in scientific articles and resources on rare genetic diseases. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on this condition, including the associated genes and inheritance patterns. OMIM provides a catalog of genetic disorders and associated genes, along with information on inheritance and clinical characteristics.

Several genes have been associated with autosomal dominant vitreoretinochoroidopathy, including [names of genes]. Genetic testing can be performed to identify mutations in these genes and confirm a diagnosis in individuals suspected to be affected by the condition. Genetic testing may also be helpful for family members who wish to determine their risk of inheritance.

Support and advocacy organizations may provide more information on the inheritance and management of autosomal dominant vitreoretinochoroidopathy. These organizations can offer resources for affected individuals and their families, as well as support for genetic testing and counseling.

References:

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Other Names for This Condition

Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) is also commonly referred to by the following names:

  • Vitreous, Retinal, and Choroidal Dystrophy 1
  • Vitreous and Retinal Dystrophy Presentation 15
  • AVIRC

These names are used to describe the same genetic condition that affects the vitreous, retina, and choroid of the eye. ADVIRC is characterized by changes in the back of the eye, specifically in the vitreous gel, the retina, and the pigmented epithelium of the choroid.

The condition is caused by mutations in different genes, including VMD2, which is the gene that codes for the protein bestrophin-1. Mutations in this gene are most commonly associated with ADVIRC. However, rare cases have been reported with mutations in other genes, including FBLN4, IMPG1, and IMPG2.

Individuals with ADVIRC may often have a decrease in vision and visual acuity. The progression of the disease varies among affected individuals, and some may experience additional retinal abnormalities.

Autosomal dominant inheritance is rare, meaning that it usually requires only one copy of an altered gene to be affected by the condition. However, some cases of ADVIRC have been associated with autosomal recessive inheritance, which requires two copies of an altered gene.

More information about the frequency, inheritance, genes, and other associated diseases can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide scientific articles, patient advocacy support, and additional references on this condition.

Resources for Autosomal Dominant Vitreoretinochoroidopathy:
Resource Description
PubMed A database of scientific articles and research
OMIM An online catalog of human genes and genetic disorders
Genetic Testing Registry A resource for information about genetic tests and testing laboratories
See also  ECM1 gene

Additional Information Resources

For more information about this condition, the retinal disease associated with it, and other rare genetic conditions, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about autosomal dominant vitreoretinochoroidopathy and related genes on this website.
  • PubMed: PubMed is a database of scientific articles. You can find research papers and studies about vitreoretinochoroidopathy and its causes on this website.
  • GeneCards: GeneCards is a database that provides information about human genes. You can learn more about the genetic variants and gene versions associated with vitreoretinochoroidopathy on this website.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and information about rare diseases. They have resources and information about vitreoretinochoroidopathy on their website.
  • Genetics Home Reference: Genetics Home Reference is a website maintained by the U.S. National Library of Medicine. It provides information about genetic conditions and the genes associated with them. You can find more information about autosomal dominant vitreoretinochoroidopathy on this website.

These resources can provide you with additional information about the condition, its associated genes, inheritance patterns, testing options, and more. They are valuable sources for learning about autosomal dominant vitreoretinochoroidopathy and staying up-to-date with the latest scientific research.

Genetic Testing Information

Genetic testing is an important tool for understanding autosomal dominant vitreoretinochoroidopathy (ADVIRC) and its underlying causes. This condition is caused by genetic changes or mutations in certain genes.

There are several genes that have been associated with ADVIRC, including FZD4, LRP5, and ZNF408. These genes provide instructions for making proteins that are involved in the development and maintenance of the retina, which is the light-sensitive tissue at the back of the eye.

If there is a suspicion of ADVIRC based on the patient’s symptoms and family history, genetic testing can be performed to confirm the diagnosis. This testing involves analyzing a sample of the patient’s blood or other tissues to look for changes or mutations in the genes associated with ADVIRC.

Genetic testing can also provide information about the inheritance pattern of ADVIRC. This condition follows an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. A parent with ADVIRC has a 50% chance of passing the mutated gene on to each of their children.

Genetic testing can help individuals and their families understand their risk of developing ADVIRC and plan for the future. It can also provide important information for healthcare professionals in managing the condition.

For more information about genetic testing for ADVIRC, individuals can contact a genetic testing center or speak with a genetic counselor. There are also resources available online, such as the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about the genes associated with ADVIRC and references to scientific articles.

Patient advocacy groups and support organizations can also provide additional resources and support for individuals and families affected by ADVIRC. These organizations can connect individuals with others who have the condition, provide information about ongoing research, and offer support and guidance.

In summary, genetic testing is an important tool for understanding autosomal dominant vitreoretinochoroidopathy. It can provide information about the specific genes involved, the inheritance pattern, and resources for patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about rare genetic diseases for affected individuals, patients, advocates, and the scientific community. GARD offers a catalog of articles on various rare diseases, including autosomal dominant vitreoretinochoroidopathy, along with other vitreous and retinal conditions.

Autosomal dominant vitreoretinochoroidopathy, also known by other names such as autosomal dominant vitreoretinochoroidal dystrophy, is a rare genetic condition. It is characterized by abnormalities in the vitreous humor, retina, and choroid. The frequency of this condition is unknown, but it is considered to be rare.

The cause of autosomal dominant vitreoretinochoroidopathy is associated with mutations in certain genes. Testing for these genes can help confirm a diagnosis and provide more information about the condition. PubMed, OMIM, and other genetic databases are resources where individuals can learn more about the genes associated with this condition.

Autosomal dominant inheritance is observed in this condition, which means that individuals with a single copy of the mutated gene have a 50% chance to pass it on to their children.

The Genetic and Rare Diseases Information Center offers support and additional information for individuals affected by autosomal dominant vitreoretinochoroidopathy and other rare genetic diseases. There are various resources available, including references to scientific articles, genetic testing centers, and patient advocacy groups.

See also  ADSL gene

For more information about autosomal dominant vitreoretinochoroidopathy and other rare genetic diseases, individuals can visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

  • Autosomal dominant vitreoretinochoroidopathy (ADVR) is a rare genetic condition that affects the vitreous, retina, and retinal pigment epithelium.
  • For individuals affected by this condition, finding support and advocacy resources can be vital for coping with the challenges and uncertainties it presents.
  • The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for learning more about ADVR and its associated genes.
  • GARD provides information on the inheritance pattern, frequency, causes, symptoms, and available testing for this rare condition.
  • Additional resources for patient support and advocacy can be found through the GARD catalog on rare diseases.
  • PubMed is an invaluable tool for accessing scientific articles and research about ADVR, its genes, and the latest advancements in diagnosis and treatment.
  • Patient support groups, both online and in-person, can provide a sense of community and understanding for individuals and families affected by ADVR.
  • Advocacy organizations focused on rare diseases may offer resources such as educational materials, information about clinical trials, and guidance on navigating healthcare systems.
  • Connecting with others who have the same condition can offer emotional support, a platform to share experiences, and access to firsthand knowledge and advice.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic diseases. It provides valuable resources for individuals affected by rare genetic conditions, including those with autosomal dominant vitreoretinochoroidopathy.

OMIM is a reliable source of information where you can learn more about the genetic causes, inheritance patterns, and associated genes of vitreoretinochoroidopathy and other retinal diseases. It offers scientific articles, references, and additional information on the condition.

If you or someone you know is affected by vitreoretinochoroidopathy, OMIM can be a helpful tool to find support, advocacy, and patient resources. The catalog provides a platform for individuals to connect with others who share the same condition and genetic mutations.

One of the key features of OMIM is its gene testing resources. OMIM lists the genes associated with vitreoretinochoroidopathy and provides information on genetic testing centers where individuals can get tested for these genes. This can help individuals and their healthcare providers make informed decisions about diagnosis and treatment options.

OMIM also provides information on the frequency of vitreoretinochoroidopathy and other associated genes. This frequency data can be useful for researchers and clinicians studying the condition and developing targeted therapies.

By using the OMIM catalog, you can access a wealth of information on vitreoretinochoroidopathy and other rare genetic diseases. Whether you are a healthcare professional, a researcher, or an individual seeking more information about a specific condition, OMIM is a valuable resource that can provide essential support and knowledge.

Scientific Articles on PubMed

Individuals affected by autosomal dominant vitreoretinochoroidopathy (ADVIRC) can find valuable scientific information on PubMed. ADVIRC is a rare genetic condition that affects the retinal pigment epithelium.

PubMed is a comprehensive database of scientific articles and references, providing a catalog of publications on various diseases and conditions. This resource can be used to learn more about the inheritance, causes, and frequency of ADVIRC, as well as information on testing and genetic counseling.

By searching for ADVIRC or its associated genes in PubMed, patients and their families can access articles that discuss the condition in detail. These articles provide insights into the pathogenesis, clinical manifestations, and management options for ADVIRC.

Furthermore, PubMed can be a helpful tool for advocacy and support groups. They can use the information available on PubMed to educate affected individuals, raise awareness about the condition, and promote research efforts.

Some popular searches on PubMed related to ADVIRC include:

  • Autosomal dominant vitreoretinochoroidopathy
  • Genetic testing for ADVIRC
  • ADVIRC inheritance
  • ADVIRC-associated genes

In addition to PubMed, individuals seeking more information about ADVIRC can also refer to resources like the Online Mendelian Inheritance in Man (OMIM) database and genetic testing centers. These sources provide comprehensive information on the condition and its associated genes.

Overall, PubMed is a valuable tool for accessing scientific articles and references related to autosomal dominant vitreoretinochoroidopathy. It provides a wealth of information that can help patients, their families, and healthcare professionals learn more about this rare condition and its genetic underpinnings.

References

  • Autosomal dominant vitreoretinochoroidopathy:

    • Learn more about autosomal dominant vitreoretinochoroidopathy at the OMIM database.
    • The National Organization for Rare Disorders (NORD) provides additional information on this condition.
  • Genetic testing:

    • The GeneTests website offers information on testing for autosomal dominant vitreoretinochoroidopathy and other related genetic conditions.
  • Scientific articles:

    • PubMed is a valuable resource for finding scientific articles on autosomal dominant vitreoretinochoroidopathy.
  • Support and advocacy resources:

    • The Vitreous, Retina, Macula Specialists of New York website provides information and support for individuals affected by vitreoretinochoroidopathy.