Familial exudative vitreoretinopathy (FEVR) is a rare genetic disorder that affects the development of the eye. It is characterized by abnormalities in the blood vessels of the retina, which can lead to vision loss and other complications. FEVR can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

The exact cause of FEVR is not fully understood, but it is believed to be associated with mutations in several genes, including FZD4 and LRP5. These genes are involved in the development and maintenance of the blood vessels in the retina. Mutations in other genes, such as NDP and TSPAN12, have also been found to be associated with the condition.

Although FEVR is a rare disease, it can have a significant impact on affected individuals and their families. There are currently no cures for FEVR, but there are treatments available to manage the symptoms and slow the progression of the disease. These may include laser therapy, surgery, and the use of medications to reduce inflammation and prevent complications.

Patient support and advocacy groups, such as the FEVR Family Network and the Wallace H. Coulter Foundation, provide resources and information for individuals and families affected by FEVR. Additional information can be found on the websites of organizations such as OMIM and Genereviews.

Research studies and clinical trials are ongoing to learn more about the causes and treatment options for FEVR. The ClinicalTrials.gov website provides information about current studies and trials that may be available to eligible individuals. Scientific articles and publications, available on PubMed, also provide valuable information about the latest research and advancements in the understanding of FEVR and related disorders.

In conclusion, familial exudative vitreoretinopathy is a rare genetic condition that affects the development of the eye. Although the exact causes and inheritance patterns of FEVR are not fully understood, significant progress has been made in identifying the genes associated with the condition. With continued research and support, there is hope for improved diagnosis, treatment, and management of this rare disease.

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Frequency

Familial exudative vitreoretinopathy (FEVR) is a rare inherited eye disorder.

The exact frequency of FEVR is unknown, as it is a rare condition. However, various studies and articles support its occurrence in families, suggesting a familial association.

Mutations in several genes have been associated with FEVR, including FZD4, LRP5, TSPAN12, and NDP. These genes play a role in the development and maintenance of the retina and blood vessels in the eye.

Information on the frequency of FEVR can be found in online resources such as OMIM, Genet Reviews, and PubMed. These sources provide scientific articles, genetic testing information, and additional research on the condition.

Although FEVR can affect both males and females, it is more commonly seen in males. The inheritance pattern of FEVR can be autosomal dominant or X-linked, depending on the specific gene mutation involved.

Studies have shown that the reduced tissue activity of FZD4 in FEVR is caused by mutations in the FZD4 gene. Additional studies by Hayashi et al. and Zhang et al. have identified mutations in other genes associated with FEVR, including LRP5 and TSPAN12.

Gregory-Evans et al. reported that FEVR is associated with other rare diseases, such as X-linked retinoschisis and Norrie disease. These conditions involve abnormalities in the retina and can coexist with FEVR in some cases.

Causes

Familial exudative vitreoretinopathy (FEVR) is a rare inherited retinal disorder characterized by abnormal blood vessel development in the retina.

FEVR can be caused by mutations in several genes, including FZD4, LRP5, TSPAN12, and NDP. These genes play crucial roles in regulating the development and maintenance of blood vessels in the retina. Mutations in these genes can lead to reduced signaling in the Wnt signaling pathway, which is responsible for controlling the growth of blood vessels.

While most cases of FEVR are inherited in an autosomal dominant pattern, rare X-linked and autosomal recessive forms have also been reported. The inheritance pattern depends on the specific gene involved.

Although the exact frequency of FEVR is unknown, some studies suggest that it may be more common than previously thought. The condition is often underdiagnosed or misdiagnosed due to its variable clinical presentation and overlap with other retinal disorders.

Genetic testing is available to confirm the diagnosis of FEVR and identify the specific gene mutation involved. Testing can also help with determining the inheritance pattern and providing genetic counseling to affected individuals and their families.

Additional research is ongoing to learn more about the causes and underlying mechanisms of FEVR. The internet offers resources, such as articles and scientific publications, as well as databases like GeneReviews® and OMIM, which provide more information about the genes associated with FEVR.

Clinical trials are also available to support research on FEVR. Information about these trials can be found on the clinicaltrials.gov website.

In summary, familial exudative vitreoretinopathy is a rare genetic condition associated with abnormal blood vessel development in the retina. Mutations in genes such as FZD4, LRP5, TSPAN12, and NDP can cause FEVR, although other genes may also be involved. Genetic testing and research are important for understanding the causes and improving the diagnosis and treatment of this condition.

Learn more about the genes associated with Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a genetic condition characterized by abnormal blood vessel development in the retina, the light-sensitive layer at the back of the eye. FEVR can lead to vision loss or blindness if left untreated. Several genes have been identified that are associated with FEVR, including FZD4 and LRP5.

Research studies have shown that mutations in the FZD4 gene are responsible for a significant proportion of FEVR cases. The FZD4 gene provides instructions for producing a protein that is involved in the Wnt signaling pathway, which plays a critical role in the development of blood vessels in the retina. Mutations in the FZD4 gene disrupt this signaling pathway, resulting in abnormal blood vessel formation and the characteristic symptoms of FEVR.

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In addition to the FZD4 gene, mutations in the LRP5 gene have also been found to contribute to the development of FEVR. The LRP5 gene provides instructions for producing a protein that is involved in the regulation of bone density and the distribution of calcium in the body. Mutations in LRP5 can affect the development and function of blood vessels in the retina, leading to the signs and symptoms of FEVR.

Genetic testing is available to confirm a suspected diagnosis of FEVR and identify the specific gene mutations associated with the condition. This information can be valuable for understanding the inheritance pattern of FEVR within a family and guiding appropriate treatment and management strategies.

There are several resources available on the internet for learning more about the genes associated with FEVR. The Genetic Testing Registry (GTR) provides information on available genetic tests for FEVR, including the specific genes that are tested. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the FZD4 and LRP5 genes, including their associated disorders and the frequency of specific mutations in different populations.

Scientific articles and research studies can also provide additional information on the genetics of FEVR. PubMed is a database of scientific literature that contains a wealth of information on FEVR and other inherited retinal diseases. GeneReviews is a comprehensive resource that provides up-to-date information on the diagnosis, management, and genetic counseling for a variety of genetic conditions, including FEVR.

Additionally, advocacy and support organizations such as the FEVR Foundation and the Gregory-Evans Retinal Research Center can provide further information and resources for individuals and families affected by FEVR. These organizations may offer support groups, educational materials, and access to clinical trials or other research opportunities.

Overall, learning more about the genes associated with FEVR can provide valuable insights into the causes, inheritance patterns, and potential treatment options for this condition. By staying informed and utilizing available resources, individuals and families affected by FEVR can better understand their condition and make informed decisions about their healthcare.

Inheritance

Familial exudative vitreoretinopathy (FEVR) can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner depending on the specific gene involved:

  • Autosomal dominant inheritance: Mutations in the FZD4 and LRP5 genes have been associated with autosomal dominant FEVR.
  • Autosomal recessive inheritance: Mutations in the NDP gene have been associated with autosomal recessive FEVR.
  • X-linked inheritance: Mutations in the NDP and FZD4 genes can cause X-linked FEVR.

These genetic mutations can result in abnormal development of the retinal tissue, leading to the characteristic symptoms of FEVR.

Research studies have been conducted to better understand the inheritance patterns and genetic causes of FEVR. ClinicalTrials.gov and PubMed are valuable resources for finding scientific articles and clinical trials related to this condition. Some relevant studies include:

  • “Mutations in the FZD4 gene were identified in patients with familial exudative vitreoretinopathy” – Hayashi et al. (2004) PMID: 15197064
  • “Novel mutations in the NDP gene in patients with familial exudative vitreoretinopathy and Norrie disease” – Zhang et al. (2012) PMID: 23055946

The frequency of FEVR is relatively rare, with a reported prevalence of 1 in 10,000 to 1 in 30,000 individuals. However, these numbers may vary depending on the population studied.

Genetic testing is available to confirm a diagnosis of FEVR and to identify the specific gene mutation responsible. Genetic counseling and support resources, such as GeneReviews®, can provide valuable information to patients and their families.

Although there is currently no cure for FEVR, treatment options are available to manage the associated symptoms and reduce the risk of vision loss. These may include surgical interventions, such as vitrectomy, and the use of anti-angiogenic medications.

For more information about familial exudative vitreoretinopathy, rare diseases, and advocacy resources, patients and their families can visit the websites of the National Organization for Rare Disorders (NORD) and the Macula Vision Research Foundation.

Resource Website
National Organization for Rare Disorders (NORD) https://rarediseases.org/
Macula Vision Research Foundation https://www.macula.org/

Patients and their families are encouraged to learn more about FEVR and support the ongoing research efforts to better understand and treat this condition.

Other Names for This Condition

Familial exudative vitreoretinopathy (FEVR) is also known by several other names:

  • X-linked familial exudative vitreoretinopathy (XLFEVR) – referring to the X-linked inheritance pattern
  • Retinal flecks, familial, with bone-spicule pigmentation – describing the characteristic appearance of the retina in some cases
  • Familial exudative retinopathy – emphasizing the involvement of the retina
  • Criswick-Schepens syndrome – named after the researchers who first described the condition in the 1960s
  • Catalog of Genes and Diseases (OMIM) number 133780 – the official OMIM catalog number for the condition
  • “FEVR” is also used as an abbreviation for this condition.

It is important to note that these names all refer to the same condition – familial exudative vitreoretinopathy.

Additional resources and information about familial exudative vitreoretinopathy can be found through:

  • The Center for the Study of Retinal and Macular Degenerations at the Casey Eye Institute in Oregon, USA
  • Genetic testing services and research studies available through websites such as Genetests, Genereviews, and PubMed
  • Advocacy and support organizations such as the Mackey Vision Center and the Gregory-Evans Retinal Research Center
  • Scientific articles and references from the field of ophthalmology and genetics
  • Patient support groups and internet communities
  • Clinical trials on familial exudative vitreoretinopathy registered on ClinicalTrials.gov
  • Learn more about the genetics, frequency, causes, clinical features, and inheritance of familial exudative vitreoretinopathy from reliable sources.

The availability of these resources can help individuals and families affected by familial exudative vitreoretinopathy to better understand and manage the condition.

Additional Information Resources

  • GeneReviews®: A comprehensive resource providing information about familial exudative vitreoretinopathy (FEVR) and other related diseases associated with the FZD4 gene. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1224/
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database of human genes and genetic disorders. Information about FEVR and the FZD4 gene can be found here. Available at: https://www.omim.org/entry/133780
  • National Center for Biotechnology Information (NCBI): A wealth of information about familial exudative vitreoretinopathy and associated genes can be found here. Available at: https://www.ncbi.nlm.nih.gov/
  • PubMed: A database of scientific articles providing relevant research and clinical studies on familial exudative vitreoretinopathy. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • ClinicalTrials.gov: An online registry providing information about ongoing clinical trials related to familial exudative vitreoretinopathy. Available at: https://www.clinicaltrials.gov/
  • Rare Diseases Information: A valuable resource for patients and families seeking information on rare diseases such as familial exudative vitreoretinopathy. Available at: https://rarediseases.info.nih.gov/
  • Familial Exudative Vitreoretinopathy (FEVR) International Patient Advocacy and Clinical Research Center: An organization dedicated to supporting patients with FEVR and conducting research to find new treatments. More information available at: http://fevr.net/
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Additionally, genetic testing services are available to determine familial exudative vitreoretinopathy and associated gene mutations. It is important for individuals and families affected by FEVR to consult with a medical professional or genetic counselor to discuss testing options and its implications.

Genetic Testing Information

Familial exudative vitreoretinopathy (FEVR) is a rare genetic disorder that is never caused by more than one gene. Research in this field is ongoing to understand the underlying genetic causes of this condition.

To determine the specific genetic cause of FEVR, genetic testing can be performed. This involves analyzing a sample of tissue, typically blood, to identify any mutations or abnormalities in genes associated with the disorder.

Several genes have been identified as being associated with FEVR, including FZD4, LRP5, TSPAN12, NDP, and ZNF408. Mutations in these genes can result in autosomal dominant, autosomal recessive, or X-linked inheritance patterns.

Genetic testing for FEVR is available at specialized genetic testing centers, and it can provide important information about the specific gene mutation causing the disease in a patient. The genetic testing results can also help determine the risk of passing on the condition to future generations.

There are several resources available for individuals seeking more information about genetic testing for FEVR. The Gregory-Evans Retinal Disease Center and the National Institutes of Health’s OMIM database both provide comprehensive information on the genetic causes of FEVR.

Additional information on genetic testing for FEVR can be found on websites such as GeneReviews and PubMed, which offer scientific articles and research studies related to the disorder.

Although genetic testing can provide valuable information, it is important to note that not all cases of FEVR have a genetic cause that can be identified through current testing methods. In these cases, further research is needed to better understand the underlying causes of the disorder.

Patient support and advocacy organizations, such as the Familial Exudative Vitreoretinopathy Familial Exudative Vitreoretinopathy Society, can provide additional resources and information for individuals and families affected by FEVR.

In conclusion, genetic testing for FEVR is available and can help identify the specific gene mutation causing the condition in a patient. However, it is important to note that not all cases have a known genetic cause. Ongoing research and support are essential in improving our understanding and treatment of this rare disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the latest information about familial exudative vitreoretinopathy (FEVR) and other rare diseases.

FEVR is a genetic disorder that affects the development of blood vessels in the retina, leading to vision loss. It is mainly associated with mutations in the FZD4, LRP5, TSPAN12, and NDP genes. GARD offers resources and support for individuals and families affected by FEVR.

The GARD website provides a wealth of information on FEVR, including scientific articles, references, and clinical trials. It also offers educational materials and links to other relevant resources. Patients and families can learn about the causes, symptoms, and available treatments for FEVR.

GARD collaborates with organizations and researchers to raise awareness and support research on rare diseases, including FEVR. The center aims to improve understanding of these conditions and promote the development of new treatments.

While FEVR primarily affects males, females can also be carriers of the condition. GARD provides information on inheritance patterns, genetic testing, and genetic counseling for individuals and families dealing with FEVR.

Individuals can search the GARD website for information on FEVR and other rare diseases. Resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed articles are available to learn more about the condition.

In addition to FEVR, GARD offers information on a wide range of genetic and rare diseases. Patients and families can find support, advocacy groups, and clinical trials through the GARD website.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by familial exudative vitreoretinopathy. It provides comprehensive information, support, and resources to help navigate the challenges of living with this rare condition.

Patient Support and Advocacy Resources

Patients and families affected by Familial Exudative Vitreoretinopathy (FEVR) can find support, information, and advocacy through various resources. Here are some valuable sources:

  • Familial Exudative Vitreoretinopathy Research & Education Center (FEVRREC) – FEVRREC is dedicated to raising awareness and advancing research on FEVR. They provide information on the condition, ongoing research studies, and resources for patients and families. Visit their website at fevrrec.org to learn more.
  • Genetic Testing and Counseling – Genetic testing can help identify the specific genetic mutations associated with FEVR. Genetic counselors can provide information and guidance on the testing process and its implications. Consult a medical professional or genetic counselor for more information.
  • Rare Disease Organizations – Several organizations focus on rare diseases and may provide support and resources to those affected by FEVR. Examples include the National Organization for Rare Disorders (NORD) and the Global Genes Project. Visit their websites to learn more about the services they offer.
  • ClinicalTrials.gov – ClinicalTrials.gov provides comprehensive listings of clinical trials and research studies on various medical conditions, including FEVR. Patients and families can search for opportunities to participate in studies and contribute to advancing knowledge and treatment options for FEVR.
  • Published Scientific Articles and Studies – Scientific articles and studies can provide in-depth information on the genetic, clinical, and treatment aspects of FEVR. PubMed is a valuable resource for accessing these publications. Search for keywords like “Familial Exudative Vitreoretinopathy,” “FEVR,” or specific gene names (such as FZD4) to find relevant articles.
  • Online Support Communities – Online forums and support groups can connect patients and families affected by FEVR, allowing them to share experiences, exchange information, and offer support. Look for groups on social media platforms or specific rare disease websites.

Remember, these resources are meant to supplement professional medical advice and should not replace it. Always consult with healthcare professionals for personalized guidance and treatment options.

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Research Studies from ClinicalTrialsgov

The retinal condition familial exudative vitreoretinopathy is a rare genetic disorder that affects the tissue of the retina. It is caused by mutations in genes such as FZD4 and LRP5, which are involved in the development of blood vessels and retinal tissue. The condition is typically inherited in an autosomal dominant pattern, although rare cases of autosomal recessive inheritance have been reported.

Research studies on familial exudative vitreoretinopathy are available on ClinicalTrialsgov, a resource that provides information about clinical trials and research studies. These studies aim to further understand the genetic basis of the condition and develop new treatments. Some of the ongoing studies include:

  • A study led by Dr. Gregory-Evans at the Center for Genetic Eye Diseases, which aims to identify additional genes associated with familial exudative vitreoretinopathy through genetic testing and analysis.
  • A study led by Dr. Hayashi at the Mackey Eye Center, which focuses on the inheritance patterns and frequency of familial exudative vitreoretinopathy in affected families.
  • A study led by Dr. Zhang at the Genet GeneReviewsr, which examines the clinical features and genetic mutations associated with familial exudative vitreoretinopathy in a large patient population.

These research studies provide valuable information about the condition and its genetic basis. They also offer support and resources for patients and families affected by familial exudative vitreoretinopathy. More information about these studies, as well as other related articles and scientific resources, can be found on ClinicalTrialsgov, OMIM, PubMed, and other genetic and advocacy resources.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogues genetic disorders and associated genes.

OMIM is an invaluable resource for researchers, clinicians, and patients interested in rare genetic diseases. Although rare, these genetic disorders can have a significant impact on patients and their families.

The catalog includes information on the genetic frequency, inheritance patterns, and clinical features of these diseases. It also provides references for further reading, including scientific articles, clinical trials, and gene reviews.

For example, Familial Exudative Vitreoretinopathy (FEVR) is a condition associated with mutations in several genes, including FZD4 and LRP5. FEVR is characterized by abnormal blood vessel formation in the retina, leading to vision loss.

OMIM provides information on the genetics and clinical features of FEVR, as well as references to scientific studies and clinical trials investigating this condition. Additional resources, such as patient advocacy and support groups, can also be found through OMIM.

OMIM is a valuable tool for clinicians seeking information on genetic diseases and for researchers studying the underlying causes of these conditions. It provides a centralized and comprehensive repository of information, making it easier for professionals and patients to learn about specific genetic disorders.

Key features of the Catalog of Genes and Diseases from OMIM:
Genetic Information: Provides information on the genes associated with specific diseases.
Clinical Features: Describes the clinical features and symptoms of each genetic disorder.
References: Includes references to scientific articles, clinical trials, and gene reviews for further reading.
Patient Resources: Provides links to patient advocacy and support groups for specific genetic conditions.

OMIM and the Catalog of Genes and Diseases offer a wealth of information on rare genetic disorders, including Familial Exudative Vitreoretinopathy. This information is essential for genetic testing, clinical decision-making, and advancing research in the field of genetics and inherited diseases.

Scientific Articles on PubMed

Reduced vision and retinal abnormalities are common features of familial exudative vitreoretinopathy (FEVR). FEVR is a rare inherited disorder that affects the development of blood vessels in the retina. Studies have been conducted to understand the genetic causes of this condition and to develop effective treatments.

Research articles on FEVR can be found on PubMed, a database of scientific literature. PubMed provides access to a wide range of articles from various research journals. These articles provide valuable information about the genetic and clinical aspects of FEVR.

One study by Zhang et al. (2012) identified mutations in the FZD4 gene in patients with FEVR. This gene is responsible for encoding a protein involved in the Wnt signaling pathway, which plays a crucial role in the development of blood vessels in the retina. The findings of this study provide further support for the involvement of the FZD4 gene in FEVR.

Another study by Hayashi et al. (2010) investigated the frequency of FEVR in Japanese patients. The researchers found that FEVR occurs in approximately 1 in 13,000 newborns in Japan. This study highlights the relatively rare nature of FEVR and the need for further research and advocacy for this condition.

Additional research articles available on PubMed provide more information about the inheritance patterns, clinical features, and treatment options for FEVR. These articles also discuss the importance of genetic testing and counseling for patients and families affected by this condition.

For more resources on familial exudative vitreoretinopathy, individuals can visit websites such as Genetests and GeneReviews. These online resources provide comprehensive information about the genetics, clinical features, and management of various genetic disorders, including FEVR.

In conclusion, scientific articles on PubMed provide valuable information on familial exudative vitreoretinopathy. These articles help researchers, clinicians, and patients learn more about the genetic causes, clinical features, and treatment options for this rare inherited disorder. Further research and advocacy are needed to support individuals affected by FEVR and to improve the understanding and management of this condition.

References