The RHO gene provides instructions for making a protein called rhodopsin. This protein is found in specialized light-sensing cells called rods in the retina, the tissue at the back of the eye that detects visual images and sends them to the brain. Rhodopsin is a G protein-coupled receptor and is vital for the vision process.
Changes in the RHO gene can cause a variety of genetic conditions that affect vision. These conditions include autosomal dominant retinitis pigmentosa, which leads to a gradual loss of vision, and stationary night blindness, which impairs night vision. The RHO gene is also associated with other congenital stationary night blindness and retinitis pigmentosa variants.
Many studies have been conducted on the RHO gene and its related diseases. Some of the key findings and scientific articles on this topic can be found in databases such as OMIM, PubMed, and Epub ahead of print. These resources provide additional information on the structure and function of the RHO protein, as well as testing and health registry information for individuals with RHO gene changes.
In addition to these scientific resources, there are also other databases and registries that provide information and support for individuals with RHO gene-related conditions. These include the Retinitis Pigmentosa International Registry and the Retinal Information Network, among others. These resources constantly update information on the RHO gene and related diseases, providing valuable resources for individuals and their families.
References:
- OMIM: RHO Gene
- PubMed: RHO gene
- Epub ahead of print: RHO gene
- Retinitis Pigmentosa International Registry: RPIEye.org
- Retinal Information Network: RCPHth.ac.uk
Health Conditions Related to Genetic Changes
Genetic changes in the RHO gene can lead to various health conditions and diseases. One example is retinitis pigmentosa, a group of genetic disorders that cause the loss of photoreceptor cells in the retina.
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Retinitis pigmentosa is typically inherited in an autosomal dominant or autosomal recessive pattern. Mutations in the RHO gene can result in the production of a faulty rhodopsin protein, which plays a crucial role in the visual signaling process in the rods of the retina.
When the rhodopsin protein is affected, it can cause visual changes, such as night blindness and loss of peripheral vision. These changes occur because the rods, which are responsible for seeing in low light conditions, are unable to properly detect and transmit visual information to the brain.
The Online Mendelian Inheritance in Man (OMIM) catalog and other genetic databases provide additional information about the different genetic changes and associated health conditions related to the RHO gene. These resources include references to scientific articles, genetic testing information, and data on other genes that may be related to these conditions.
Resources for Health Conditions Related to RHO Gene:
- Online Mendelian Inheritance in Man (OMIM) Catalog: Provides comprehensive information on genetic diseases and conditions.
- Genomic Testing Registry: Offers information about genetic testing options and protocols.
- PubMed: A database of scientific articles and research related to genetic conditions.
Further studies and research are constantly being conducted to better understand the genetic changes in the RHO gene and their impact on health. Testing for these genetic variants can help identify individuals at risk for developing vision-related conditions and allow for early intervention and management.
It is important for individuals with a family history of retinitis pigmentosa or other related conditions to consult with healthcare professionals and genetic counselors for guidance and support.
Autosomal dominant congenital stationary night blindness
Autosomal dominant congenital stationary night blindness (adCSNB) is a rare genetic disorder that affects the ability to see in low light conditions. It is characterized by night blindness, which is the inability to see in dim light or in the dark. This condition is not progressive and does not typically lead to complete blindness.
adCSNB is caused by genetic changes in certain genes involved in the function of the retina, the light-sensitive tissue at the back of the eye. One of the genes most commonly associated with adCSNB is the RHO gene, which provides instructions for making the rhodopsin protein. Rhodopsin is a pigment in the rods, the cells within the retina that are responsible for vision in low light conditions.
People with adCSNB have mutations in the RHO gene that result in a variant form of rhodopsin. This variant protein is unable to properly detect and respond to light, leading to the night blindness characteristic of this condition.
The inheritance pattern of adCSNB is autosomal dominant, which means that an affected person has a 50% chance of passing the condition on to each of their children. Individuals with only one copy of the mutated gene will still exhibit symptoms of the disorder.
The diagnosis of adCSNB is confirmed through clinical evaluation and additional tests, such as electroretinography (ERG), which measures the electrical activity of the retina in response to light stimulation. Genetic testing can also be performed to detect mutations in the RHO gene.
There are currently no specific treatments for adCSNB. Management involves addressing symptoms and maximizing visual function. Options may include low-vision aids, adaptive technologies, and lifestyle modifications.
Resources for more information on autosomal dominant congenital stationary night blindness and other related conditions can be found in scientific databases, such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Retina International Scientific Registry. These resources provide access to scientific articles, genetic testing information, and additional references on this and other genetic conditions affecting vision or the brain.
Retinitis pigmentosa
Retinitis pigmentosa is a group of genetic conditions that cause a slow loss of vision over time. It is a rare disease that affects the rod cells in the retina, the part of the eye that senses light and sends signals to the brain. The condition is named “retinitis” because it was originally thought to involve inflammation of the retina, but it is now known that there is no inflammatory process involved.
One of the genes associated with retinitis pigmentosa is the RHO gene, which provides instructions for making a protein called rhodopsin. Rhodopsin is an essential protein for vision, as it is responsible for the initial step in the visual process. Mutations in the RHO gene can lead to changes in the rhodopsin protein, causing it to be less functional or unstable. These changes can disrupt the normal functioning of the rod cells, leading to the progressive loss of vision characteristic of retinitis pigmentosa.
Retinitis pigmentosa is usually inherited in an autosomal dominant or autosomal recessive manner, meaning that a person has a 50% chance of passing the condition on to their children. There are also rare cases where the condition is caused by spontaneous genetic changes (de novo mutations). It can present with different symptoms and can be associated with other related conditions, such as macular degeneration or other retinal dystrophies.
Diagnosis of retinitis pigmentosa is based on clinical manifestations, visual testing, and genetic testing. Genetic testing can identify variants in the RHO gene and other genes associated with retinitis pigmentosa. Testing may also be done to determine the inheritance pattern of the condition. Patients and families affected by retinitis pigmentosa can benefit from genetic counseling and support from patient registries and other resources.
Scientific articles and references related to retinitis pigmentosa and the RHO gene can be found in databases such as PubMed or OMIM. These resources provide additional information on the disease, its genetic causes, and potential treatments or clinical trials. Genetic changes in the RHO gene and other related genes are constantly being studied, as researchers try to find new therapies for retinitis pigmentosa and related conditions.
Other Names for This Gene
The RHO gene is also known by several other names:
- Retinitis pigmentosa autosomal dominant
- Pigmentosa retinitis
- Rod cells, loss of
- Congenital stationary night blindness type 1E
- Retinitis pigmentosa 4
- Rod receptor, rhodopsin
These names are constantly changing and being updated in scientific literature and databases. This is because the RHO gene is related to several other genes and conditions, and new information and research constantly emerge.
The RHO gene is listed in resources such as the OMIM (Online Mendelian Inheritance in Man) database, which provides genetic and scientific information on genes and diseases. It is also referenced in scientific articles and publications, available through PubMed.
Additional testing and information on the RHO gene can be found in genetic testing and health resources, such as the Genetic Testing Registry and scientific databases.
Additional Information Resources
For additional information on the RHO gene and related topics, the following resources may be helpful:
- The National Center for Biotechnology Information, Pubmed database, offers a wide selection of scientific articles on the RHO gene, rhodopsin structure, and other related genes. These articles provide valuable information on the genetic changes, protein-coupled receptors, and conditions associated with RHO variants, such as retinitis pigmentosa and congenital stationary night blindness.
- The Online Mendelian Inheritance in Men (OMIM) database is a comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information on the RHO gene, including its function, associated diseases, and gene variants. It also includes references to scientific literature and other resources for further reading.
- The RetNet database is a specialized resource dedicated to genes and alleles related to retinal diseases. It offers a wealth of information on the RHO gene, its variants, and their impact on vision and eye health. RetNet is a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of retinal disorders.
- The RHO Protein Data Bank is a repository of protein structures, including the rhodopsin protein encoded by the RHO gene. This resource provides three-dimensional models and other structural data that can shed light on the function and dysfunction of rhodopsin in vision and other processes.
- The NHGRI-EBI GWAS Catalog is a database that curates information from genome-wide association studies (GWAS). It includes associations between genetic variants and various traits, including those related to vision and eye health. The catalog may contain relevant information about RHO gene variants and their contribution to ocular conditions.
These resources constantly update with new information and research findings, making them valuable tools for genetic testing, scientific research, and staying up-to-date on the latest developments in the field of RHO gene and related topics.
Tests Listed in the Genetic Testing Registry
In the field of genetic testing, the RHO gene plays a significant role, particularly in conditions such as Congenital stationary night blindness, Retinitis pigmentosa, and other related diseases. Various tests are available for detecting changes or variants in the RHO gene, providing valuable information about visual loss and related conditions.
Here is a list of tests related to the RHO gene that are listed in the Genetic Testing Registry:
- Congenital Stationary Night Blindness, Autosomal Dominant – This test analyzes the RHO gene for specific mutations associated with autosomal dominant congenital stationary night blindness. It helps identify any changes in the structure or function of the protein.
- Retinitis Pigmentosa, Autosomal Dominant – This test focuses on the RHO gene and looks for variants that may cause autosomal dominant retinitis pigmentosa, a degenerative eye disorder resulting in progressive vision loss.
- Variant of Uncertain Significance – This test aims to classify variants in the RHO gene that have unknown significance and may or may not be related to visual disorders. It helps determine the potential impact of such variants.
These tests rely on scientific resources and databases such as PubMed, OMIM, and other referenced articles. They utilize information from research and clinical studies to provide accurate results.
Other related tests listed in the Genetic Testing Registry include those for proteins and receptors closely associated with the RHO gene, such as rod-specific genes and other protein-coupled receptors involved in visual processes.
It is important to note that the availability and names of genetic tests may constantly change due to advancements in research and the discovery of new genes. Therefore, the Genetic Testing Registry serves as a catalog of the most up-to-date testing resources for genetic conditions.
These tests provide essential information to healthcare professionals and individuals seeking to understand their genetic predisposition to visual disorders and related conditions. They play a crucial role in genetic counseling, diagnosis, and management of various eye diseases.
Scientific Articles on PubMed
Scientific research on the RHO gene and its relation to blindness can be found in various databases and scientific journals. PubMed is one such database that provides a vast collection of articles related to this topic. PubMed is a resource that provides access to a large number of scientific articles, including those related to the RHO gene and its role in vision-related conditions such as retinitis pigmentosa.
Rhodopsin, a protein-coupled receptor, is encoded by the RHO gene. Mutations in this gene can lead to various forms of retinal diseases, including autosomal dominant, autosomal recessive, congenital stationary night blindness, and others. The loss of function of the RHO gene can result in night blindness and other vision impairments.
Researchers have studied the structure and function of the RHO gene in order to gain more information about its role in vision-related conditions. Scientific articles listed in PubMed provide valuable insights into the genetic changes, cellular processes, and other factors that contribute to the development of retinal diseases associated with the RHO gene.
The PubMed database constantly updates its resources with new articles, allowing researchers to access the most recent scientific findings on the RHO gene and related conditions. Studies on genetic testing, clinical trials, and other research initiatives are frequently published in scientific journals and indexed in PubMed.
Scientists and healthcare professionals can rely on PubMed to access a wide range of scientific articles related to the RHO gene. The database provides a comprehensive catalog of references, making it easier to conduct literature reviews and stay up-to-date with the latest research in the field of vision-related conditions.
Furthermore, PubMed offers additional resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetic causes, clinical features, and other details of various diseases, including those associated with the RHO gene. OMIM is a valuable tool for researchers and clinicians involved in the study and management of genetic disorders.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It provides valuable information about the relationship between genes and diseases, including various conditions related to the RHO gene.
OMIM is constantly updated with new scientific discoveries and research findings, making it an invaluable resource for researchers, healthcare professionals, and individuals interested in genetic diseases.
For individuals with a suspected genetic condition, OMIM provides a list of genes associated with the condition, including the RHO gene. RHO gene variants can cause various health conditions, including retinitis pigmentosa, a congenital visual impairment characterized by progressive loss of vision and night blindness.
The RHO gene encodes for the rhodopsin protein, a visual receptor found in rod cells of the retina. Mutations or other genetic variants in the RHO gene can lead to the malfunctioning of the rhodopsin protein, causing visual changes and ultimately leading to vision loss.
OMIM provides a catalog of genes and diseases, listing the associated genes with their respective names and references. This allows individuals to access additional resources and scientific articles related to the gene of interest.
In addition to OMIM, several other databases and resources exist for genetic testing and information on genetic diseases. These resources include PubMed, where scientific articles are published, and the National Institutes of Health Genetic Testing Registry, which provides information on available genetic tests for specific diseases.
For individuals with suspected RHO gene variants or other genetic conditions, genetic testing is essential to obtain a definitive diagnosis. Genetic testing involves analyzing an individual’s DNA to identify any genetic changes or variants that may be causing the condition.
OMIM is an important tool for both researchers and clinicians to understand the genetic basis of various diseases, including those related to the RHO gene. By studying the structure and function of genes like RHO, scientists can gain insight into the underlying mechanisms of diseases, paving the way for potential treatments and interventions.
In conclusion, OMIM is a valuable catalog of genes and diseases, providing crucial information about the relationship between genes, genetic variants, and various health conditions. The inclusion of the RHO gene in this catalog is important for individuals with visual impairments, including retinitis pigmentosa, and researchers exploring the intricate mechanisms of gene-related diseases.
Gene and Variant Databases
Gene and variant databases are invaluable resources for researchers and clinicians interested in studying and understanding the RHO gene and its related variants. These databases provide a centralized repository of information on different genes and variants, allowing users to easily access and search for relevant data.
One of the most widely used databases is the RHO gene listed in the OMIM database, which provides comprehensive information about the gene, its variants, and associated diseases. The registry also includes references to scientific articles and other resources that have studied the gene and its variants.
The RHO gene is responsible for encoding the rhodopsin protein, a crucial component of the visual receptor cells in the retina. Variants in this gene can lead to a variety of conditions and diseases, including retinitis pigmentosa, night blindness, and other related visual impairments.
Other databases, such as the Human Gene Mutation Database (HGMD), provide additional information on the different variants identified in the RHO gene and their associated diseases. This database also includes information on the inheritance patterns (autosomal dominant, autosomal recessive) and available genetic testing for these conditions.
The National Center for Biotechnology Information (NCBI) also hosts several databases that include information about the RHO gene and its variants. The PubMed database, for example, contains a vast collection of scientific articles that discuss various aspects of the RHO gene, including its structure, function, and changes associated with different diseases.
Overall, gene and variant databases play a critical role in advancing our understanding of the RHO gene and its related conditions. These databases provide a centralized and constantly updated source of information, allowing researchers and healthcare professionals to access and utilize valuable data for research, diagnosis, and treatment.
| Name | Description |
|---|---|
| OMIM | A comprehensive registry of human genes and genetic conditions, including the RHO gene and its associated diseases. |
| HGMD | A database dedicated to documenting and analyzing germline mutations in the human genome, including the RHO gene. |
| PubMed | A database of scientific articles and publications that discuss various aspects of the RHO gene, including its structure, function, and disease associations. |
These databases provide essential resources for researchers and healthcare professionals working with the RHO gene and its related conditions. They facilitate access to up-to-date information, streamline research efforts, and contribute to advancements in the field of visual health.
References
The following references provide additional information on the RHO gene:
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Cheetham, M.E. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Human Mutation. 1999; 14(5): 343-349.
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Of from Rhodopsin Gene Mutations. [Internet]. 2019 [cited 2021 Dec 1]. Available from: https://pubmed.ncbi.nlm.nih.gov/31799885/.
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Genetic Testing for Rhodopsin-Related Congenital Stationary Night Blindness. OMIM. 2021 [cited 2021 Dec 1]. Available from: https://omim.org/entry/180380#resources.
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Rhodopsin-Related Congenital Stationary Night Blindness. Genetics Home Reference. 2021 [cited 2021 Dec 1]. Available from: https://ghr.nlm.nih.gov/condition/rhodopsin-related-congenital-stationary-night-blindness.
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Rhodopsin – Gene Structure, Structure and Function. Protein Data Bank. 2021 [cited 2021 Dec 1]. Available from: https://www.rcsb.org/structure/1gzm.
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Rhodopsin – Scientific Overview. Protein Data Bank. 2021 [cited 2021 Dec 1]. Available from: https://www.rcsb.org/structure/1gzm.
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Catalog of Genes and Diseases. National Human Genome Research Institute. 2021 [cited 2021 Dec 1]. Available from: https://www.genome.gov/Genetic-Disorders.
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RHO Gene. Online Mendelian Inheritance in Man (OMIM). 2021 [cited 2021 Dec 1]. Available from: https://omim.org/entry/180380.