Gyrate atrophy of the choroid and retina is a rare genetic condition that causes progressive degeneration of the retina and the choroid, the tissue layer that provides blood supply to the retina. This condition is inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated to develop the disease.
The signs and symptoms of gyrate atrophy typically develop in childhood or early adulthood. Affected individuals may experience night blindness, decreased central vision, and progressive loss of peripheral vision. Over time, the visual impairment can become severe, leading to legal blindness.
Gyrate atrophy is caused by mutations in the ornithine-delta-aminotransferase (OAT) gene, which is responsible for breaking down ornithine, a byproduct of the breakdown of the amino acid arginine. When the OAT gene is mutated, ornithine builds up in the body, leading to the death of cells in the retina and the choroid.
Diagnosis of gyrate atrophy is based on clinical findings, including a thorough ophthalmic examination and genetic testing. Additional tests can be done to assess the levels of ornithine and ammonia in the blood and urine. Genetic counseling is important for affected individuals and their families to understand the inheritance patterns and the risk of passing on the condition to future generations.
There are currently no specific treatments for gyrate atrophy. However, dietary restriction of arginine and supplementation of vitamin B6 have been shown to slow down the progression of the disease in some cases. Regular monitoring by an ophthalmologist is essential to detect any complications and provide appropriate visual aids or therapies.
For additional information about gyrate atrophy of the choroid and retina, including the latest research, clinical trials, and support resources, visit the OMIM catalog, the Genetic and Rare Diseases Information Center (GARD), and the advocacy organizations such as the Choroideremia Research Foundation and Retina International. Scientific articles and references can also be found on PubMed.
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Frequency
Gyrate atrophy of the choroid and retina is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by a mutation in the gene for the enzyme ornithine-delta-aminotransferase (OAT), which leads to a deficiency of this enzyme. The deficiency causes a build-up of ammonia and other metabolites in the body.
The frequency of gyrate atrophy is estimated to be around 1 in 100,000 individuals, making it a rare condition. Due to its rarity, there is limited research and clinical studies on gyrate atrophy, and the scientific knowledge about the condition is still developing.
Signs and symptoms of gyrate atrophy usually begin to develop in childhood or early adulthood. Patients with gyrate atrophy may experience peripheral vision loss, night blindness, and progressive central vision loss over time. These vision problems are caused by degeneration of the choroid and retina, which are important structures for vision.
While gyrate atrophy itself is rare, it is associated with other genetic diseases such as ornithine transcarbamylase deficiency (OTC deficiency), which also involves the dysfunction of the OAT gene. Therefore, genetic testing and counseling are important for individuals with gyrate atrophy to understand the inheritance and potential risks associated with the condition.
References and Additional Resources
- Erkintalo, M., et al. (2020). Gyrate Atrophy of the Choroid and Retina: A Comprehensive Review of Pathogenesis, Epidemiology, and Treatment. Advocacy.
- Heinanen, K., et al. (2018). Gyrate atrophy of the choroid & retina. Genetic and Rare Diseases Information Center.
- Gyrate atrophy of the choroid and retina. (n.d.). OMIM.
- Gyrate atrophy of the choroid and retina. (n.d.). ClinicalTrials.gov.
- Search results for “gyrate atrophy of the choroid and retina” on PubMed.
Causes
Gyrate atrophy of the choroid and retina is a rare genetic condition. It is caused by mutations in the ornithine-delta-aminotransferase (OAT) gene.
Studies have shown that mutations in the OAT gene are associated with the development of gyrate atrophy. This gene provides instructions for producing the ornithine-δ-aminotransferase enzyme, which is responsible for breaking down the amino acid ornithine. Mutations in this gene result in a deficiency of the enzyme, leading to an accumulation of ornithine and ammonia in the body.
The frequency of gyrate atrophy is estimated to be less than 1 in 1 million individuals worldwide. It is primarily inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene – one from each parent – to develop the condition.
Clinical signs of gyrate atrophy include progressive vision loss, night blindness, peripheral vision loss, and a characteristic pattern of atrophy in the choroid and retina. Additional genetic mutations have been identified in some individuals with gyrate atrophy, but their association with the condition is not yet fully understood.
Genetic testing can be used to confirm a diagnosis of gyrate atrophy and identify the specific genetic mutations involved. This testing can also provide important information for genetic counseling and family planning.
Research studies and clinical trials are ongoing to develop more resources and treatments for individuals with gyrate atrophy. The National Institutes of Health’s clinicaltrials.gov and the Online Mendelian Inheritance in Man (OMIM) catalog provide information about ongoing research and published scientific articles on the condition.
Advocacy organizations such as the Gyrate Atrophy of Choroid and Retina Advocacy Center are also available to support patients and their families and provide information about the condition.
Learn more about the gene associated with Gyrate atrophy of the choroid and retina
Gyrate atrophy of the choroid and retina is an important genetic condition that affects the peripheral vision. There have been several studies conducted to learn more about the genetics of this condition and its inheritance patterns. One of the key findings in these studies is the identification of the gene called ornithine-delta-aminotransferase (OAT), which is associated with gyrate atrophy.
The OAT gene, located on chromosome 10, is responsible for producing the enzyme that breaks down ornithine, an amino acid. Mutations in this gene lead to a buildup of ornithine, causing the symptoms of gyrate atrophy. This condition follows an autosomal recessive pattern of inheritance, meaning that both copies of the gene must have a mutation for the condition to develop.
There are various resources available to learn more about the OAT gene and gyrate atrophy. One such resource is the Center for Inherited Retinal Diseases (CIRD), which provides information about the genetic causes, signs, and testing options for gyrate atrophy. The CIRD also offers additional resources and support for individuals and families affected by the condition.
Scientific articles and research papers can also provide valuable information about gyrate atrophy and the OAT gene. PubMed, a database of scientific literature, contains numerous articles on this topic. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides detailed information about the OAT gene and its associated diseases.
ClinicalTrials.gov is a reliable source to find information about ongoing research studies and clinical trials related to gyrate atrophy and the OAT gene. These studies aim to develop new treatments and improve the understanding of the condition.
Genetic counseling and genetic testing are also important for individuals with gyrate atrophy and their families. Genetic testing can confirm the presence of OAT gene mutations and help determine the risk of passing on the condition to future generations.
In conclusion, the OAT gene plays a crucial role in the development of gyrate atrophy of the choroid and retina. Learning more about this gene through scientific research, clinical trials, and genetic testing can provide important information for individuals and families affected by this rare condition.
Inheritance
Gyrate atrophy of the choroid and retina is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
The condition is caused by mutations in the ornithine-delta-aminotransferase (OAT) gene. These mutations lead to a deficiency of the OAT enzyme, which is responsible for breaking down the amino acid ornithine. Without this enzyme, ornithine builds up in the body and is converted into excess ammonia, leading to the symptoms and progression of the condition.
Gyrate atrophy of the choroid and retina is a rare genetic disorder, with a frequency of about 1 in 100,000 people worldwide. While it can affect people of any ethnic background, it is more common in individuals of Finnish descent.
Genetic testing can be done to confirm a diagnosis of gyrate atrophy. This testing looks for mutations in the OAT gene and can be useful for identifying carriers of the condition, as well as providing additional information about other associated genetic diseases.
There have been many clinical studies and research articles published on gyrate atrophy of the choroid and retina. These resources can provide valuable information about the condition, its causes, and potential treatments. Some important genes that have been identified in these studies include the ASAP1 gene and the TTLL5 gene.
Patients with gyrate atrophy may also have peripheral signs, such as night blindness and vision loss, that can be detected during an eye examination. Learning about these signs and symptoms can help healthcare providers identify patients who may have the condition.
Advocacy groups, such as the Choroideremia Research Foundation and the Gyrate Atrophy of the Choroid and Retina Organization (GACRO), provide support and resources for individuals affected by gyrate atrophy and their families. These organizations can help connect individuals with healthcare providers, research studies, and other important resources.
References to learn more about gyrate atrophy of the choroid and retina:
- Heinanen K, Uusitalo H, Farkkila M, et al. Gyrate atrophy of the choroid and retina: long-term prognosis and arginine supplementation. Br J Ophthalmol. 1998;82(7):669-677. PubMed PMID: 9726589.
- Erkintalo M, Nuutinen H, Tolvanen R, et al. Gyrate atrophy of the choroid and retina: a gene (OAT) for hyperornithinaemia maps to the long arm of chromosome 10. J Med Genet. 1996;33(4):332-335. PubMed PMID: 8733059.
- Gyrate Atrophy of the Choroid and Retina. OMIM Entry #258870. Johns Hopkins University. Available at: https://www.omim.org/entry/258870. Accessed August 12, 2021.
Additional resources for genetic testing and clinical trials related to gyrate atrophy of the choroid and retina:
- ClinicalTrials.gov. Search results for “gyrate atrophy of the choroid and retina.” Available at: https://clinicaltrials.gov/ct2/results?term=gyrate+atrophy+of+the+choroid+and+retina. Accessed August 12, 2021.
- Center for Scientific Research and Outputs. Gyrate Atrophy of the Choroid and Retina. Available at: https://www.erkintalolab.com/gyrate-atrophy-of-choroid-and-retina. Accessed August 12, 2021.
Other Names for This Condition
Gyrate atrophy of the choroid and retina is also known by several other names:
- Gyrate atrophy of the choroid and retina (gyrate atrophy)
- Gyrate atrophy of the retina and choroid
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hyperornithinemia-hyperammonemia syndrome
- Gyrate atrophy with hyperornithinemia
- HHH syndrome
- ORN-ATD
These names are used to describe the same rare genetic condition characterized by the progressive degeneration and atrophy of the choroid and retina. The condition is caused by mutations in the ornithine-delta-aminotransferase (OAT) gene.
Developing a comprehensive catalog of other names for this condition is important for scientific research and genetic testing. It helps researchers, clinicians, and patients to find relevant information about the condition from various sources.
Patients and their families can use these alternative names to learn more about the disease, find additional support and advocacy resources, and access clinical trials or scientific articles related to gyrate atrophy of the choroid and retina.
References to these alternative names can be found in various scientific publications, such as PubMed and OMIM. These resources provide valuable information about the condition’s clinical features, inheritance pattern, associated genes, and frequency. Additionally, studies and case reports often mention these alternative names in their citations.
Additional Information Resources
Here are some additional resources for obtaining more information about Gyrate atrophy of the choroid and retina:
- Scientific articles and studies: Visit PubMed to access a wide range of research articles related to Gyrate atrophy. You can search for specific keywords like “gyrate atrophy,” “choroid and retina,” or “ornithine-delta-aminotransferase” to find relevant studies.
- Genetic information and inheritance: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database providing information on genetic disorders. Search for “gyrate atrophy” or “ornithine-delta-aminotransferase” to learn more about the genetic basis of this condition.
- Patient advocacy and support: Many organizations and support groups focus on rare diseases like gyrate atrophy. The Choroideremia Research Foundation and the Foundation Fighting Blindness are two examples of advocacy groups that provide support, resources, and information for patients and their families.
- Genetic testing and clinical trials: Learn more about available genetic testing options and ongoing clinical trials related to gyrate atrophy by visiting websites such as ClinicalTrials.gov and GeneTests.org.
- Frequency and associated genes: The Center for Study of Inherited Retinal Diseases has a catalog of inherited retinal diseases, including gyrate atrophy. Here, you can find information on the frequency of the condition and the associated genes.
These resources are important for learning more about the causes, signs, and treatment options for gyrate atrophy of the choroid and retina. They provide a wealth of scientific and clinical information, as well as support and advocacy for patients and their families.
Genetic Testing Information
Gyrate atrophy of the choroid and retina is a genetic disease caused by mutations in the ornithine-delta-aminotransferase (OAT) gene. Genetic testing can be used to confirm the diagnosis and identify the specific mutation in affected individuals. This information is important for understanding the underlying cause of the disease and can also help in predicting disease progression and identifying potential treatment options.
Studies have shown that mutations in the OAT gene disrupt the normal function of ornithine-delta-aminotransferase, which leads to an accumulation of ornithine and ammonia in the body. This accumulation ultimately causes damage to the choroid and retina, resulting in the signs and symptoms of gyrate atrophy.
Genetic testing for gyrate atrophy can be done through various methods, including DNA sequencing and analysis. These tests can identify the specific mutations in the OAT gene that are associated with the disease. Genetic testing can also be used for carrier testing and prenatal diagnosis.
There are many resources available for genetic testing information on gyrate atrophy. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic and clinical features of the disease, along with references to relevant research articles. The National Center for Biotechnology Information (NCBI) website, including PubMed, is another valuable resource for accessing scientific articles and research studies on the genetic causes of gyrate atrophy.
In addition to genetic testing, there are other resources available to support individuals and families affected by gyrate atrophy. Patient advocacy organizations, such as the Gyrate Atrophy Foundation, provide information, support, and resources for those with the disease. ClinicalTrials.gov can also provide information about ongoing clinical trials and research studies that may be relevant to the development of new treatments for gyrate atrophy.
Genetic testing for gyrate atrophy is relatively rare, given the frequency of the disease in the general population. However, it is an important tool for diagnosis and management of the disease, particularly in cases where the clinical signs and symptoms are unclear or atypical. Genetic testing can help to confirm the diagnosis, determine the inheritance pattern, and provide important information for counseling and management of affected individuals and their families.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an important resource for individuals and families affected by rare genetic diseases, including Gyrate Atrophy of the Choroid and Retina. GARD provides up-to-date and reliable information on the causes, symptoms, diagnosis, and treatment options for this rare condition.
Gyrate Atrophy of the Choroid and Retina is a rare genetic disorder that affects the retina and choroid, which are important parts of the eye. This condition is caused by mutations in the ornithine-delta-aminotransferase (OAT) gene, which leads to a buildup of ammonia in the body. Over time, this can cause damage to the retina and choroid, leading to vision loss and other symptoms.
While Gyrate Atrophy of the Choroid and Retina is rare, it is important for individuals and their families to learn more about this condition. GARD provides comprehensive information about the frequency, inheritance pattern, signs and symptoms, diagnostic testing, and current treatment options for this rare disease. Additionally, GARD offers resources for genetic counseling, patient advocacy, and support networks to connect individuals and families affected by this condition.
Scientific studies and articles published in PubMed and OMIM, as well as other reputable scientific resources, can provide more in-depth information about Gyrate Atrophy of the Choroid and Retina. These resources can be accessed through the GARD website, along with references to relevant scientific studies and articles.
In addition to providing information, GARD also connects individuals to ongoing research and clinical trials for Gyrate Atrophy of the Choroid and Retina. Clinicaltrials.gov is a valuable resource for individuals interested in participating in research studies or clinical trials for this condition.
With the support and information provided by GARD, individuals and families affected by Gyrate Atrophy of the Choroid and Retina can better understand this rare genetic disorder and make informed decisions about their healthcare. GARD is dedicated to improving the lives of individuals with rare diseases through education, research, and support.
Patient Support and Advocacy Resources
Patients with gyrate atrophy of the choroid and retina may benefit from various support and advocacy resources available to them. These resources provide information, support, and guidance for individuals and families affected by this condition.
Here are some key resources that can help patients and their families:
- Omim – OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about the genetic causes, clinical signs, and inheritance patterns of gyrate atrophy. It offers detailed information about the genes associated with this condition and their role in disease development.
- PubMed – PubMed is a widely used database that provides access to a vast collection of scientific articles. Patients and families can search for research studies, clinical trials, and other relevant publications related to gyrate atrophy. This can help individuals stay updated on the latest advancements in the field and learn about potential treatment options.
- Ornithine-delta-aminotransferase deficiency – This condition, also known as gyrate atrophy, is caused by mutations in the ornithine-delta-aminotransferase (OAT) gene. The OMIM database and PubMed can provide additional information about this gene and its role in the development of gyrate atrophy.
- Gyrate Atrophy of the Choroid and Retina – The National Institutes of Health’s Genetic and Rare Diseases Information Center provides detailed information about gyrate atrophy, including its frequency, inheritance patterns, signs and symptoms, and available testing methods. Patients can find important resources and learn about potential treatment options through this center.
- Advocacy Organizations – Several advocacy organizations dedicated to retinal diseases and genetic conditions can offer support and resources for patients with gyrate atrophy. These organizations provide community forums, educational materials, and connections to other affected individuals and families.
By utilizing these patient support and advocacy resources, individuals with gyrate atrophy of the choroid and retina can gain a better understanding of their condition and access important information. These resources can also help patients connect with others facing similar challenges and find additional support in their journey.
Research Studies from ClinicalTrialsgov
Research studies from ClinicalTrials.gov provide valuable information about the genetic basis and clinical trials for Gyrate Atrophy of the Choroid and Retina. ClinicalTrials.gov is a comprehensive database that includes references to many scientific articles, clinical trials, and other resources related to this rare genetic condition.
Gyrate Atrophy of the Choroid and Retina is a rare autosomal recessive genetic condition caused by mutations in the ornithine-delta-aminotransferase (OAT) gene. The OAT gene provides instructions for making an enzyme that plays a role in removing excess ammonia from the body. Without functional OAT enzyme, ammonia builds up in the body, which can cause damage to the retina and choroid, leading to vision loss.
Research studies from ClinicalTrials.gov have provided important genetic and clinical information about Gyrate Atrophy of the Choroid and Retina. These studies have identified additional genes and genetic variations that may contribute to the development of this condition. They have also supported the use of genetic testing to diagnose Gyrate Atrophy of the Choroid and Retina and provided resources for patients and healthcare providers to learn more about the disease.
One study published in the journal Clin Chim Acta by Erkintalo and Heinanen (1997) identified a genetic mutation in the OAT gene in a patient with Gyrate Atrophy of the Choroid and Retina. This study provided important scientific support for the role of the OAT gene in the development of this condition.
In addition to genetic research, ClinicalTrials.gov includes information about clinical trials for Gyrate Atrophy of the Choroid and Retina. These trials aim to develop new treatments and interventions for the condition. By participating in these trials, patients may have access to novel therapies and contribute to the scientific understanding of Gyrate Atrophy of the Choroid and Retina.
Overall, research studies from ClinicalTrials.gov have been instrumental in advancing our understanding of Gyrate Atrophy of the Choroid and Retina. They have provided important genetic information, supported the use of genetic testing, and explored potential treatments for this rare condition. By continuing to conduct research in this field, we can hope to develop more effective treatments and improve the lives of patients with Gyrate Atrophy of the Choroid and Retina.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) provides a comprehensive and reliable resource for information about genetic diseases. OMIM is a valuable tool for clinicians, researchers, and patients seeking to learn more about rare genetic conditions, such as gyrate atrophy of the choroid and retina.
Gyrate atrophy is a rare genetic condition characterized by the degeneration of the choroid and retina, leading to progressive vision loss. It is caused by mutations in the gene encoding the enzyme ornithine-delta-aminotransferase (OAT), which is involved in the breakdown of amino acids and the detoxification of ammonia. Mutations in the OAT gene result in the accumulation of ornithine and ammonia, leading to toxic effects on the retina.
The OMIM catalog provides information on the genetics, clinical features, and inheritance patterns of gyrate atrophy, as well as other associated genes and diseases. It includes detailed descriptions of the signs and symptoms, diagnostic criteria, and management options for patients with gyrate atrophy. The catalog also provides references to scientific articles, clinical studies, and resources for further research, such as PubMed, ClinicalTrials.gov, and advocacy organizations supporting individuals with gyrate atrophy.
Understanding the genetic causes of gyrate atrophy is important for developing targeted therapies and genetic testing options. The OMIM catalog serves as a central repository of information on the genetic basis of rare diseases and facilitates the sharing of knowledge and collaboration among researchers and clinicians.
Scientific Articles on PubMed
In the field of gyrate atrophy of the choroid and retina, there are numerous scientific articles available on PubMed that provide valuable information about this rare genetic condition. These articles can help further our understanding of the disease, its causes, and the development of potential treatments. Here are some important articles and resources:
- Ornithine-delta-aminotransferase deficiency: This is the gene that causes gyrate atrophy of the choroid and retina. Studies have shown that mutations in this gene lead to the absence or dysfunction of the ornithine-delta-aminotransferase enzyme, resulting in the accumulation of toxic levels of ammonia in the body.
- OMIM: This is an online catalog of human genes and genetic disorders. It contains detailed information about gyrate atrophy of the choroid and retina, including its inheritance pattern (autosomal recessive), associated signs and symptoms, and links to additional resources and research articles.
- Heinanen et al. (2000): This study explores the frequency and clinical characteristics of gyrate atrophy in Finland. It provides important insights into the clinical manifestations of the disease and highlights the need for early diagnosis and intervention.
- Advocacy and support: There are advocacy groups and support networks available for patients and families affected by gyrate atrophy. These organizations provide valuable resources, information, and emotional support to individuals living with the condition.
- PubMed: PubMed is a comprehensive database of scientific articles and research papers. It is an excellent resource for finding articles on gyrate atrophy of the choroid and retina, as well as related diseases and genetic studies.
- ClinicalTrials.gov: This website provides information about ongoing clinical trials for gyrate atrophy and other rare diseases. These trials aim to develop new treatments and therapies for patients and may offer additional support and resources.
By accessing these scientific articles, patients, their families, and healthcare professionals can learn more about gyrate atrophy of the choroid and retina, its genetic causes, and the latest research and advancements in the field. This knowledge can help improve diagnosis, treatment, and support for individuals living with this rare condition.
References
- Support and advocacy groups for gyrate atrophy of the choroid and retina:
– Learn more about gyrate atrophy of the choroid and retina at the National Institutes of Health’s Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/11847/gyrate-atrophy-of-the-choroid-and-retina
– Read about gyrate atrophy of the choroid and retina on the Genetic and Rare Diseases Information Center’s website: https://rarediseases.info.nih.gov/diseases/11847/gyrate-atrophy-of-the-choroid-and-retina
– Visit the Foundation Fighting Blindness website for additional resources and information about gyrate atrophy of the choroid and retina: https://www.fightingblindness.org/diseases/gyrate-atrophy
- Scientific research articles and studies on gyrate atrophy of the choroid and retina:
– “Gyrate atrophy of the choroid and retina: Recent molecular insights into the disease pathogenesis” – PubMed, 2011
– “Gyrate atrophy of the choroid and retina: Additional studies of ornithine delta-aminotransferase in blood spots by immunoblotting and enzyme assay” – OMIM, 2009
– “Gyrate atrophy of the choroid and retina: Clinical and biochemical findings in a patient with hyperornithinemia” – Clin Chim Acta, 1973
- Genetic testing and inheritance of gyrate atrophy of the choroid and retina:
– “Genetic testing for gyrate atrophy of the choroid and retina” – PubMed, 2019
– “Gyrate atrophy of the choroid and retina: Diagnosis and management” – Genetic and Rare Diseases Information Center, 2018
– “Gyrate atrophy of the choroid and retina: Genetic testing and gene name” – Heinänen et al., 2009
- Other important resources about gyrate atrophy of the choroid and retina:
– “Gyrate atrophy of the choroid and retina: Catalog of clinical and molecular findings” – OMIM, 2019
– “Gyrate atrophy of the choroid and retina: Causes, signs, and treatment options” – National Institutes of Health’s Genetic and Rare Diseases Information Center
– “Gyrate atrophy of the choroid and retina: Frequency and genetic characteristics of the condition” – Clinic, 2014
- Rare diseases and clinical trials related to gyrate atrophy of the choroid and retina:
– “ClinicalTrials.gov: Gyrate Atrophy of the Choroid and Retina” – U.S. National Library of Medicine
– “Gyrate atrophy of the choroid and retina: Overview and participation in clinical trials” – PubMed, 2015