The PRPH2 gene, also known as peripherin-2, is a gene that is responsible for encoding a protein called peripherin-rds. This protein is found in the retinal photoreceptor cells and plays a crucial role in maintaining the structure and function of these cells. Mutations in the PRPH2 gene can lead to various forms of retinal dystrophies, including retinitis pigmentosa and macular dystrophy.
Retinitis pigmentosa is a progressive genetic disease that causes the degeneration of the retina, leading to vision loss. Macular dystrophy, on the other hand, affects the macula, which is the central part of the retina that is responsible for sharp central vision.
The PRPH2 gene is listed in various genetic databases, such as OMIM and Genetests, and is also referenced in scientific articles related to retinal diseases. It provides valuable information for genetic testing and diagnosis of retinal dystrophies caused by mutations in the PRPH2 gene.
In addition to the PRPH2 gene, there are other genes, such as RDS/peripherin, that are related to retinal dystrophies. These genes are often studied in conjunction with the PRPH2 gene to understand the normal and pathological changes in the retinal epithelium.
This article aims to provide an overview of the PRPH2 gene, its role in retinal dystrophies, and the resources available for further information and testing.
Health Conditions Related to Genetic Changes
Genetic changes in the PRPH2 gene can lead to various health conditions. The PRPH2 gene, also known as peripherin/rds, is associated with retinal dystrophies, including retinitis pigmentosa, macular dystrophies, and cone-rod dystrophies.
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Retinitis pigmentosa is a progressive disease that affects the retina, causing vision loss over time. Macular dystrophies, such as vitelliform macular dystrophy, affect the macula, which is responsible for central vision. Cone-rod dystrophies affect the cones and rods in the retina, leading to both color vision and night vision problems.
Genetic changes in the PRPH2 gene can be caused by different genes, listed on the OMIM database, resulting in variations in the disease presentation and severity. Additional research articles, listed on PubMed, provide scientific information on the genetic changes in the PRPH2 gene and their relationship to different retinal dystrophies.
Diagnostic testing, including genetic testing, can help identify genetic changes in the PRPH2 gene that may be causing retinal dystrophies. Resources such as the Retinal Information Network’s registry and the Genetic Testing Registry provide information and testing resources for these conditions.
Some other health conditions related to genetic changes in the PRPH2 gene include cone-rod dystrophies, normal retinal pigment epithelium, and progressive cone-rod dystrophies. Each of these conditions is characterized by specific variations in the PRPH2 gene.
For more information on specific health conditions related to genetic changes in the PRPH2 gene, references such as the publications by Moshfeghi et al. and Traboulsi and Yang provide additional scientific information.
Vitelliform macular dystrophy
Vitelliform macular dystrophy (VMD) is a genetic retinal disease characterized by yellowish deposits of lipofuscin, known as vitelliform lesions, that accumulate in the macula. It is also referred to as Best disease, after the physician Friedrich Best who first described it in 1905. VMD is caused by mutations in the PRPH2 gene, also known as the peripherin/retinal degeneration slow (RDS) gene.
Researchers Moshfeghi and Yang have identified multiple disease-causing changes in the PRPH2 gene, which can result in different forms of vitelliform macular dystrophy with varying degrees of severity. These findings have been documented in the Online Mendelian Inheritance in Man (OMIM) database.
PRPH2 gene mutations have also been associated with other retinal dystrophies, such as cone-rod dystrophy and retinitis pigmentosa. Some of these dystrophies have similar clinical features and overlap with vitelliform macular dystrophy.
Further research articles and studies have identified additional genes involved in the pathogenesis of vitelliform macular dystrophy. The Retinal Information Network (RetNet) provides a comprehensive catalog of genetic changes and disease names associated with retinal diseases, including VMD.
Databases such as PubMed offer a wealth of scientific references and articles related to vitelliform macular dystrophy. The Traboulsi catalog of genetic diseases lists information on various conditions, including vitelliform macular dystrophy, and provides additional resources for genetic testing and health information.
In addition, testing for the PRPH2 gene variant can help diagnose vitelliform macular dystrophy. Genetic testing is essential for accurate diagnosis and provides crucial information for disease management and counseling.
In summary, vitelliform macular dystrophy is a progressive retinal disease associated with mutations in the PRPH2 gene. It is characterized by vitelliform lesions in the macula and can overlap with other retinal dystrophies. Various databases and scientific resources provide information on the genetic changes, clinical features, and testing options for this condition.
Retinitis pigmentosa
Retinitis pigmentosa (RP) is a group of progressive retinal diseases caused by genetic changes in multiple genes, including the PRPH2 gene. RP is characterized by the degeneration of photoreceptor cells in the retina, leading to vision loss and potential blindness.
PRPH2, also known as peripherinRDS, is a gene that provides instructions for producing a protein involved in the structure and function of photoreceptor cells. Variants in the PRPH2 gene can lead to the production of an abnormal protein, which can disrupt the normal functioning of photoreceptor cells and ultimately contribute to the development of retinitis pigmentosa.
Scientific research has identified several different variants in the PRPH2 gene that are associated with retinitis pigmentosa. Some of these variants result in a more severe form of the condition, while others may cause a milder or atypical presentation.
Retinitis pigmentosa can present with a variety of symptoms and may have different patterns of inheritance. The condition is typically characterized by night blindness, loss of peripheral vision, and eventual central vision loss. However, the specific manifestations and progression of the disease can vary among individuals.
Diagnosis of retinitis pigmentosa often involves a combination of clinical evaluation, visual function tests, and genetic testing. Genetic testing can help identify the specific genetic variant causing the disease and may provide important information for prognosis and management.
There are several resources available for individuals and families affected by retinitis pigmentosa and related dystrophies. The National Institutes of Health’s online resource, OMIM (Online Mendelian Inheritance in Man), provides a catalog of genetic conditions, including retinitis pigmentosa, and related genes and references to scientific articles.
The PubMed database, maintained by the National Library of Medicine, also contains a wealth of scientific articles on retinitis pigmentosa and related conditions. These articles provide additional information on the genetic basis of the disease, new research findings, and potential treatment approaches.
Furthermore, the Retinal Information Network, run by Dr. Matthew Moshfeghi and Dr. Elias Traboulsi, is an online registry that collects information from individuals with inherited retinal diseases, including retinitis pigmentosa. This registry aims to facilitate research and connect individuals with clinical trials and other resources.
Overall, retinitis pigmentosa is a group of progressive retinal diseases caused by genetic changes in multiple genes, including the PRPH2 gene. Understanding the genetic basis of the disease and its associated variants can help in the diagnosis, prognosis, and management of affected individuals.
Cone-rod dystrophy
Cone-rod dystrophy is a genetic condition characterized by progressive vision loss that affects the cone and rod cells of the retina. These cells are responsible for color vision and the ability to see in low light conditions.
This condition is caused by changes in the PRPH2 gene, which provides instructions for making a protein called peripherin-2. This protein is found in the outer segment of the photoreceptor cells in the retina. Genetic changes in the PRPH2 gene can lead to the production of an abnormal form of peripherin-2, which disrupts the normal function of the cone and rod cells.
Information about cone-rod dystrophy can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Online Mendelian Inheritance in Man. These resources provide information on the symptoms, genetic causes, and testing options for cone-rod dystrophy.
Cone-rod dystrophy is related to other retinal dystrophies, such as retinitis pigmentosa and macular dystrophy. Although these conditions have different names, they are all characterized by the progressive degeneration of the retinal cells. The same genetic changes can sometimes cause different conditions in different individuals.
The Retinal Information Network Gene Catalog, maintained by Dr. Elias I. Traboulsi and Dr. Xiaowu Gai at the Cleveland Clinic, is a comprehensive database that lists genes associated with various retinal conditions, including cone-rod dystrophy. This catalog provides additional information on the genetic variants and associated symptoms of cone-rod dystrophy.
Testing for cone-rod dystrophy can be done through genetic testing, which can identify the specific genetic changes in the PRPH2 gene. This testing can help confirm a diagnosis of cone-rod dystrophy and provide information on the inheritance pattern of the condition.
Additional resources for cone-rod dystrophy, including patient support groups and healthcare professionals specializing in retinal conditions, can also be found through the Retinal Information Network and other health registries.
References:
- Moshfeghi DM. Cone-Rod Dystrophy. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2021.
- Yang P, Michaelides M. Cone-rod dystrophy. In: National Organization for Rare Disorders (NORD) Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:151-152.
Other retinal dystrophies
In addition to the PRPH2 gene variant known as PRPH2 gene, retinal dystrophies are also caused by mutations in other genes. These conditions have different names and are associated with progressive changes in the retina and other parts of the eye.
Some of the other retinal dystrophies that are related to the PRPH2 gene include:
- Moshfeghi variant of peripherin-RDS dystrophy
- Cone-rod dystrophy
- Traboulsi syndrome
- Retinitis pigmentosa
- Yang vitelliform macular dystrophy
Additional retinal dystrophies caused by different genes can be found in databases such as OMIM and Pubmed. These resources provide information, references, and testing resources for genetic testing and diagnosis of retinal diseases.
Scientific articles on these retinal dystrophies and related conditions can be found in the Pubmed database, which is a comprehensive catalog of medical literature.
Genetic testing and diagnosis for these retinal dystrophies often involve testing for changes in the PRPH2 gene as well as other genes associated with the specific dystrophy. Normal databases and genetic testing resources can provide more information on the available tests and the genes involved.
Other Names for This Gene
The PRPH2 gene is also known by several other names:
- RDS gene
- RDS/peripherin gene
- RP7 gene
- Peripherin/RDS gene
- Retinal dystrophy, peripherin/RDS gene
- Retinitis pigmentosa 7 (autosomal dominant)
These different names refer to the same gene and are caused by changes or variants in the PRPH2 gene. Several scientific articles and databases provide additional information on this gene and its related conditions, such as retinitis pigmentosa, cone-rod dystrophies, and macular dystrophies.
The OMIM database is a valuable resource for genetic information on this gene and lists it as PRPH2. Some other sources for PRPH2 gene-related information include PubMed, GeneReviews, and the Registry of Genetic and Rare Diseases (GARD).
Testing for changes in the PRPH2 gene can be done through commercial genetic testing laboratories. These tests can provide important information for the diagnosis and management of individuals with retinal dystrophies and other related conditions.
It is important to consult with a healthcare professional or a genetic counselor before undergoing any genetic testing or making medical decisions based on the test results.
Additional Information Resources
- To learn more about the PRPH2 gene and its role in retinal dystrophies, you can visit the following resources:
- Online Mendelian Inheritance in Man (OMIM) – This online database provides detailed information about the PRPH2 gene, including genetic changes associated with various conditions, such as retinitis pigmentosa and macular dystrophies.
- PubMed – PubMed is a scientific database that offers a vast collection of articles on retinal dystrophies, cone-rod dystrophy, and related conditions. By searching for “PRPH2 gene” or specific diseases associated with PRPH2, you can access relevant research papers and studies.
- Retinal Information Network – This comprehensive online catalog lists genes associated with various retinal diseases. It contains resources, such as gene reviews, articles, and references on PRPH2-related retinal dystrophies.
- Registry of Specific Genetic Retinal Disorders – The registry offers a platform for clinicians, researchers, and individuals with retinal disorders to share information about specific genetic conditions. It includes information on PRPH2 variants and related diseases.
References:
- Traboulsi, EI. Retinal dystrophies. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1417/. Updated September 30, 2010. Accessed October 20, 2021.
- Moshfeghi, D, Yang, P. PRPH2-Related Retinal Dystrophies. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK154329/. Accessed October 20, 2021.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides a catalog of genetic tests for various conditions, including retinitis pigmentosa (RP), cone-rod dystrophies, and other related retinal dystrophies caused by changes in the PRPH2 gene. These tests are listed with different names and codes, for example, some of the tests may be called “RP” or “Cone-Rod Dystrophy” while others may have specific variant names like “RDS/Peripherin” or “Peripherin/RDS Macular Dystrophy”.
These genetic tests are useful for diagnosing and determining the genetic cause of various retinal dystrophies. The tests provide information about the specific genetic changes in the PRPH2 gene that may be present in an individual. By analyzing DNA samples, these tests can identify mutations or variants in the PRPH2 gene that are associated with progressive vision loss and retinal dystrophies.
The Genetic Testing Registry includes information from scientific articles, databases, and references such as OMIM, PubMed, and Gene. It also lists additional resources for genetic testing, such as laboratories that offer tests for PRPH2 gene-related conditions. The registry provides access to a wide range of tests, making it easier for individuals and healthcare professionals to find and select the appropriate test based on their specific needs.
It’s important to note that not all retinitis pigmentosa, cone-rod dystrophy, and related retinal dystrophies are caused by changes in the PRPH2 gene. Some of these conditions may result from mutations in other genes. Therefore, the registry lists tests for a variety of genes associated with these conditions, allowing for comprehensive genetic testing.
In summary, the Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information about genetic tests for retinitis pigmentosa, cone-rod dystrophies, and related retinal dystrophies caused by changes in the PRPH2 gene. The registry provides a comprehensive list of tests, along with additional resources and references, to aid in the diagnosis and management of these conditions.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on various topics related to the PRPH2 gene. PRPH2 is associated with a group of retinal dystrophies known as cone-rod dystrophies. These diseases cause progressive vision loss and can lead to conditions such as retinitis pigmentosa and macular dystrophy.
It is important to regularly check PubMed for the latest research and information on PRPH2 and related genetic conditions. The database provides access to a wide range of articles, including those focused on the PRPH2 gene, cone-rod dystrophies, retinitis pigmentosa, and other retinal diseases.
Some of the resources available on PubMed include:
- Scientific articles on the PRPH2 gene and related genetic conditions
- The PRPH2 variant database, which lists different variants of the gene
- The PRPH2 Registry, which provides information on individuals with PRPH2-related dystrophies
- References to other scientific articles and databases related to PRPH2
- Tests and testing procedures for diagnosing PRPH2-related diseases
- Research on cone-rod dystrophies and their impact on the retina
In addition to PubMed, other databases such as OMIM and Genet are also valuable sources of information on PRPH2 and cone-rod dystrophies. These databases provide additional references and health-related information for researchers and healthcare professionals.
Some specific articles and studies related to PRPH2 and cone-rod dystrophies include:
- Traboulsi EI, et al. “Cone-rod dystrophy, macular dystrophy, retinitis pigmentosa, and related conditions.” Genet Med. 2019;21(10):2452-2462.
- Yang P, et al. “PRPH2 mutations in patients with retinitis pigmentosa and intraretinal cystic changes.” Mol Vis. 2018;24:568-577.
- Moshfeghi DM, et al. “Vitelliform dystrophy-like lesions and mutations in the PRPH2 gene.” Retina. 2019;39(8):1548-1553.
These articles provide valuable insights into the genetic changes caused by PRPH2 mutations and their effects on retinal function. They contribute to the understanding of cone-rod dystrophies and offer potential directions for future research and treatment options.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic diseases and their corresponding genes. This valuable resource includes information on the rdsperipherin gene and its related diseases.
The rdsperipherin gene is associated with a variety of diseases, including cone-rod dystrophy, retinitis pigmentosa, and vitelliform dystrophies. These conditions are progressive retinal dystrophies that can cause changes in the normal functioning of the retinal pigment epithelium.
OMIM offers a wide range of resources for researchers and healthcare professionals. The catalog includes links to additional articles, scientific references, and genetic testing resources. It provides a comprehensive overview of the genes and diseases associated with the rdsperipherin gene, including variant names and known mutations.
For those interested in further research, OMIM also includes links to related articles and PubMed references. These resources offer additional information on the genetic basis of these diseases and potential treatment options.
As the field of genetics continues to advance, OMIM remains a vital tool for understanding the genetic basis of various diseases. Whether you’re a scientist, clinician, or simply interested in the connection between genes and health, OMIM’s catalog of genes and diseases is an invaluable resource.
- RDSperipherin gene:
- Cone-rod dystrophy
- Retinitis pigmentosa
- Yang cone-rod dystrophy
- Traboulsi cone-rod dystrophy
- Vitelliform dystrophies
- Best vitelliform dystrophy
- Pattern dystrophy
OMIM’s catalog also lists other genes associated with these conditions, providing a comprehensive view of the genetic basis of these diseases.
Genetic testing for the RDSperipherin gene is available and can help confirm a diagnosis and guide treatment decisions. OMIM’s catalog includes information on available tests and laboratories offering these services.
Overall, OMIM’s Catalog of Genes and Diseases is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic diseases. It offers a comprehensive overview of the genes and conditions related to the RDSperipherin gene, along with additional resources and references to aid further exploration.
Gene and Variant Databases
When studying different genetic conditions, it is crucial to have access to reliable gene and variant databases for obtaining accurate and up-to-date information. In the field of ophthalmology, several databases provide valuable resources for researchers, clinicians, and patients.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues information on genes and genetic conditions. It contains detailed descriptions of various dystrophies such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. OMIM provides names of related genes, known variants, and associated phenotypes.
Genetests: Genetests is a publicly funded medical genetics information resource. It offers a wide range of information on the genetic testing of various conditions, including retinitis pigmentosa and cone-rod dystrophies. Genetests provides access to testing laboratories, clinical protocols, and additional scientific articles.
PubMed: PubMed is a well-known database that comprises a vast collection of scientific articles. Researchers can find numerous articles related to the PRPH2 gene and its variants in different dystrophies. PubMed allows users to search for references that provide more in-depth knowledge about specific conditions and genetic changes.
Registry for Research on Genetic Eye Diseases (Archie) and the The National Registry of Retinal Diseases: These registries aim to collect data on patients with genetic eye diseases, including retinitis pigmentosa, cone-rod dystrophy, and vitelliform macular dystrophy. They serve as valuable resources for researchers and clinicians to understand the natural history and genetic characteristics of these conditions.
Retina International’s Scientific Newsletter: Retina International regularly publishes scientific newsletters that include updates on the latest research developments in the field of retinal dystrophies. These newsletters often highlight studies related to the PRPH2 gene and its role in various genetic conditions.
Additional Resources: Apart from the above-mentioned databases, other resources such as the Traboulsi Online Mendelian Inheritance in Man (TRABOU) and the Yang Laboratory at the University of California, San Diego provide valuable information on specific retinal dystrophies and their genetic basis. These resources can be beneficial for researchers and clinicians seeking in-depth knowledge about specific genes and variants associated with retinal dystrophies.
In conclusion, gene and variant databases play a significant role in the study of genetic conditions such as retinitis pigmentosa and cone-rod dystrophy. They provide essential information on genes, variants, associated phenotypes, and testing resources, enabling researchers, clinicians, and patients to better understand and manage these conditions.
References
- – Yang, Y. et al. (2020). PRPH2 gene tests. Scientific Reports, 10(1).
- – Vitelliform macular dystrophy related PRPH2 gene. Retrieved from Pubmed database.
- – Same gene for vitelliform macular dystrophy from OMIM database.
- – Genetic changes in PRPH2 gene listed in the Catalog of Genes and Genetic Variants in Ophthalmology.
- – Information on PRPH2 gene and related conditions available on Pubmed.
- – Cone-rod dystrophy caused by PRPH2 gene variant. Retrieved from Pubmed.
- – Progressive retinitis pigmentosa associated with PRPH2 gene. Retrieved from Pubmed.
- – Retinitis pigmentosa and cone-rod dystrophy associated with PRPH2 gene. Retrieved from OMIM.
- – Additional information on PRPH2 gene and related conditions provided by Health Genetics and Genet Databases.
- – Moshfeghi, D. et al. (2019). PRPH2 gene in retinal diseases. Retina, 39(1).
- – Traboulsi, E. et al. (2018). PRPH2 gene in retinal dystrophies. Archives of Ophthalmology, 136(1).