The RPE65 gene is associated with a condition known as retinitis pigmentosa (RP), which is an autosomal recessive disease that affects the retinal pigment epithelium. RP is a group of inherited eye diseases that cause degeneration of the retina, resulting in progressive vision loss. It is often diagnosed at a young age and can lead to complete blindness in severe cases.

The RPE65 gene is also implicated in other retinal conditions, including Leber congenital amaurosis and fundus albipunctatus. This gene encodes a protein called retinal pigment epithelium-specific 65 kDa protein, which plays a crucial role in the visual cycle. It converts light into electrical signals that the retina uses to transmit visual information to the brain.

Testing for variants in the RPE65 gene is available through various genetic testing companies and databases. The information obtained through these tests can help determine the cause of retinitis pigmentosa and guide treatment options. Additionally, scientific articles, PubMed, OMIM, and other resources provide further information on the genetic changes associated with this condition.

In conclusion, the RPE65 gene is an important gene associated with retinitis pigmentosa. Its variants can lead to severe changes in the retina and cause various retinal conditions. Genetic testing and available databases can help identify these variants and provide additional information for disease management and therapy.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions, including several eye diseases. One such condition is Retinitis Pigmentosa (RP), which is a severe genetic disorder that affects the retina. RP causes a progressive loss of vision, starting with difficulty seeing at night and eventually leading to tunnel vision or even blindness.

The RPE65 gene is one of the genes related to RP. Mutations in this gene can result in Leber Congenital Amaurosis (LCA), a rare genetic disorder that affects the development and function of the retina. LCA is characterized by severe visual impairment or blindness present from birth or early infancy.

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In addition to RP and LCA, genetic changes in the RPE65 gene can also lead to other eye conditions, such as Fundus Albipunctatus. This condition is characterized by the presence of white dots in the fundus, or the back of the eye. It can result in difficulty seeing in low-light environments and reduced visual acuity.

To diagnose and determine the specific genetic changes related to these conditions, genetic testing can be performed. Numerous genetic tests are available to identify mutations in the RPE65 gene and other genes associated with RP and related eye diseases. These tests can provide valuable information for accurate diagnosis and potential treatment options.

For further information about genetic changes and associated health conditions, several resources are available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes, variants, and diseases. PubMed is a scientific article database that catalogs research on genetic changes and their relation to various health conditions.

The Registry for Research on Genetic Eye Diseases (RRGED) is another valuable resource that provides a comprehensive catalog of genes and genetic changes related to eye diseases. It also includes additional information about ongoing clinical trials and research on potential therapies for these conditions.

Overall, understanding the genetic changes associated with health conditions is crucial for accurate diagnosis, prognosis, and potential treatment options. By studying these genetic changes, scientists and researchers can develop targeted therapies and interventions to improve the outcomes for individuals affected by these conditions.

Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a genetic condition that affects the health of the retina, specifically the photoreceptor cells in the back of the eye. It is one of the most severe forms of inherited retinal diseases and can cause severe vision loss or blindness from birth or early childhood.

LCA is caused by mutations in various genes, including the RPE65 gene. The RPE65 gene provides instructions for making a protein that is essential for the normal function of the retina. Mutations in this gene can disrupt the production or function of the protein, resulting in the characteristic symptoms of LCA.

The fundus of individuals with LCA typically shows specific changes, including a severely attenuated retinal blood vessel network, a pale optic nerve head, and abnormal pigmentation. These changes can be observed through fundus photography, a diagnostic test commonly used to evaluate the retina.

In addition to the RPE65 gene, there are several other genes associated with LCA, including AIPL1, CEP290, CRB1, GUCY2D, RDH12, and RPE65.

To diagnose LCA, genetic testing can be performed to identify mutations in these genes. Centralized genetic databases and registries, such as OMIM and PubMed, provide information on the genetic variants associated with LCA. These resources can be valuable for geneticists and researchers studying the condition.

In terms of treatment, there is currently no cure for LCA. However, there have been promising developments in the use of gene therapy and other experimental approaches, such as vitamin A supplementation and light therapy, to improve vision in individuals with LCA.

Overall, Leber congenital amaurosis is a rare and severe genetic condition that affects the retina, resulting in significant vision loss or blindness. Understanding the genetic changes associated with LCA is crucial for developing targeted therapies and improving the long-term outcomes for individuals with this condition.

Fundus albipunctatus

Fundus albipunctatus is a recessive genetic condition that affects the health of the retina. It is characterized by the presence of small white or yellow spots on the fundus, which is the inner surface of the eye. These spots are caused by changes in the RPE65 gene, which is responsible for converting light into chemical signals that allow us to see.

Individuals with fundus albipunctatus may experience mild to severe vision problems, including difficulty seeing in low light conditions. The severity of the disease can vary between individuals, and additional changes in other genes can also play a role in determining the severity of the condition.

Testing for fundus albipunctatus typically involves a thorough examination of the fundus and may include genetic testing to identify changes in the RPE65 gene. This information can help diagnose the condition and provide valuable information for related therapies and interventions.

For more information on fundus albipunctatus and related genetic conditions, various resources can be accessed. These include scientific databases, such as OMIM and PubMed, which provide articles and references on the disease and its associated genetic changes. Additionally, organizations like the American Registry of Pathology and the Leber Congenital Amaurosis Consortium offer information on testing and therapy options for fundus albipunctatus and other related retinitis pigmentosa conditions.

The catalog of genetic tests provides a comprehensive list of genes associated with fundus albipunctatus and related diseases. This resource can be used to find additional information on testing availability and recommended procedures.

In conclusion, fundus albipunctatus is a genetic condition that causes changes in the RPE65 gene, resulting in visual problems and the presence of white or yellow spots on the fundus. By accessing various resources and testing options, individuals with fundus albipunctatus can receive the necessary information and support for managing their condition.

Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of genetic disorders that affect the retina, leading to progressive vision loss. It is characterized by changes in the pigmented layer of the retina, called the fundus, which can be observed using fundus photography. RP is usually inherited in an autosomal recessive or autosomal dominant manner, but it can also be caused by mutations in the X chromosome.

The RPE65 gene is one of the genes listed as being associated with RP. Mutations in this gene can cause a form of RP known as Leber congenital amaurosis (LCA), which is a severe variant of the disease. The RPE65 gene encodes a protein that is involved in the visual cycle, where it converts vitamin A into a form that can be used by the retina. Mutations in this gene impair the visual cycle, leading to the progressive degeneration of the retina and loss of vision.

There are several resources available for individuals and families affected by RP. The RetNet database provides information on genes associated with retinal diseases, including RP. The Online Mendelian Inheritance in Man (OMIM) database also provides information on genes and variants associated with RP. Additionally, the National Eye Institute (NEI) maintains a registry of participants willing to be contacted for future studies on RP and other related conditions.

Genetic testing is available for RP and can help identify the specific gene changes responsible for the condition. This information can be useful in determining the prognosis, providing information on potential treatment options, and identifying any additional health risks associated with certain gene changes. In some cases, vitamin A supplements may slow the progression of RP and preserve vision. However, it is important to consult with a healthcare professional before starting any vitamin supplementation.

For more information on RP and genetic testing, individuals can consult scientific articles, references, and resources provided by organizations such as the American Academy of Ophthalmology (AAO) and PubMed. These resources can provide valuable information on the latest research and advancements in the understanding and management of RP.

In summary, retinitis pigmentosa is a genetic condition that causes progressive vision loss. The RPE65 gene is one of the genes associated with RP and mutations in this gene can lead to a severe variant of the disease known as Leber congenital amaurosis. Genetic testing and resources are available to provide information and support for individuals and families affected by RP. It is important to consult with healthcare professionals and utilize reliable sources for accurate and up-to-date information on RP and genetic testing.

Other Names for This Gene

The RPE65 gene, also known as the “retinal pigment epithelium-specific 65 kDa protein” or “retinal pigment epithelium protein of 65 kDa”, is associated with various genetic conditions and diseases. Below is a list of other names that have been used to refer to this gene:

• Congenital Leber amaurosis 2 (LCA2)
• Leber Congenital Amaurosis 2 (LCA2)
• Fundus albipunctatus 2 (FALP2)
• RPE-specific 65 kDa protein
• RPE-specific protein of 65 kDa
• Vitamin A cycle protein

The RPE65 gene is primarily associated with the condition called Leber congenital amaurosis 2 (LCA2). LCA2 is a severe autosomal recessive disease that affects the retina and causes severe vision loss from birth or early childhood. The gene encodes a protein that is essential for the conversion of vitamin A into a form that is necessary for the visual cycle in the retina.

References to the RPE65 gene can be found in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These references may provide additional information about the gene, its variants, and related genes or conditions.

Genetic testing and genetic counseling may be available for individuals with suspected RPE65 gene mutations or related conditions. These tests can help diagnose the condition and provide information about potential treatment options, such as gene therapy.

The International Retinal Disease Consortium maintains a registry of patients with RPE65-related diseases, which helps facilitate research and clinical trials for potential therapies. This registry provides valuable resources for patients, healthcare providers, and researchers.

Additional Information Resources

The RPE65 gene is central to the condition known as congenital retinitis pigmentosa. It converts vitamin A to a form that is necessary for the normal functioning of the light-sensing cells in the retina.

The following resources provide additional information about the RPE65 gene and related conditions:

• Catalog of Human Genes and Genetic Disorders: This catalog provides a comprehensive list of genes associated with various diseases, including retinitis pigmentosa. It includes names, variants, and additional information about the RPE65 gene and its role in the condition.
• PubMed: PubMed is a database of scientific articles and references. It provides a wealth of information on the RPE65 gene and its variants, as well as testing methods, therapy options, and associated diseases.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive resource that catalogues genetic conditions and the genes associated with them. It includes detailed information on the RPE65 gene, its variants, and related diseases.
• The Fundus Albipunctatus Gene Variant Database: This database focuses on the genetic changes associated with the condition fundus albipunctatus. It includes information on the RPE65 gene and its variants in relation to this specific condition.
• The Leber Congenital Amaurosis (LCA) Disease Registry: This registry provides information on various genetic changes that cause severe vision loss due to Leber congenital amaurosis. The RPE65 gene is one of the genes listed in this registry.

These resources offer a wealth of additional information on the RPE65 gene, associated variants, testing options, therapy possibilities, and other related scientific articles and health databases. They are valuable tools for further understanding the role of the RPE65 gene in retinitis pigmentosa and other conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a catalog of tests for genetic conditions. This section focuses on tests listed in relation to the RPE65 gene, which is associated with severe, central changes in the fundus of the eye. These changes are observed in conditions such as Leber congenital amaurosis and retinitis pigmentosa.

Genetic testing can help identify specific variants in the RPE65 gene that contribute to these conditions. The information obtained from these tests can assist in developing targeted therapy and understanding the underlying mechanisms of the diseases.

Below are some tests listed in the Genetic Testing Registry related to the RPE65 gene:

• Retinitis Pigmentosa Panel
• Leber Congenital Amaurosis Panel
• Autosomal Recessive Retinitis Pigmentosa Panel

These tests aim to identify variations in the RPE65 gene and other related genes that are associated with retinitis pigmentosa, Leber congenital amaurosis, and other similar conditions.

For additional information on the specific variants and genes tested, you can refer to scientific articles, databases such as OMIM and PubMed, and other resources on retinitis pigmentosa and related diseases.

References:

1. OMIM: https://www.omim.org
2. PubMed: https://pubmed.ncbi.nlm.nih.gov
3. Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/

Scientific Articles on PubMed

The RPE65 gene is responsible for the production of an enzyme called retinoid isomerohydrolase, which plays a crucial role in the visual cycle. Mutations in this gene can lead to various retinal conditions, such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and fundus albipunctatus.

The PubMed database provides a rich collection of scientific articles on genes, diseases, and related topics. Researchers and healthcare professionals can utilize PubMed to access valuable resources and stay updated on the latest advancements in the field.

Testing for changes or variants in the RPE65 gene can provide valuable information about the health and condition of individuals with related retinal diseases. The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on the RPE65 gene and its associated disorders.

In the case of RPE65-related retinal diseases, gene therapy has shown promising results. The therapy involves introducing a functional RPE65 gene into the affected retinal cells, aiming to restore vision. Several scientific articles listed on PubMed discuss the gene therapy approach for RPE65-related retinal conditions.

Additional scientific articles on PubMed provide insights into the genetics and pathogenesis of autosomal recessive retinitis pigmentosa, a condition often associated with mutations in the RPE65 gene. These articles highlight the importance of genetic testing and potential therapeutic interventions for affected individuals.

The use of vitamin A supplementation has also been studied in the context of RPE65-related retinal diseases. Vitamin A plays a crucial role in the visual cycle, and its supplementation may help improve vision in certain cases. PubMed provides references to scientific articles that explore the effects of vitamin A supplementation in individuals with RPE65-related retinal conditions.

The PubMed database offers a comprehensive catalog of scientific articles on genes, diseases, and conditions related to the RPE65 gene. Healthcare professionals and researchers can utilize this resource to access the latest information and stay updated on advancements in the field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions, genes, and variants associated with human diseases. It’s a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various health conditions.

The OMIM database catalogues various genes and diseases and provides detailed information on their characteristics, inheritance patterns, clinical features, and genetic changes associated with them. This information is crucial for diagnosing, managing, and understanding a wide range of genetic conditions.

The catalog of genes and diseases from OMIM includes names of genes and their associated diseases, such as RPE65 gene and Leber congenital amaurosis. It also lists other related diseases, including retinitis pigmentosa and fundus albipunctatus. OMIM provides a wealth of scientific articles, references, and additional resources for each gene and disease, making it an essential tool for medical professionals and researchers in the field of genetics.

In addition to information on genes and diseases, OMIM also catalogues genetic changes and variants associated with specific health conditions. This information is crucial for genetic testing labs, as it enables them to identify these changes in individuals undergoing testing for specific genetic conditions.

OMIM provides a registry of genetic tests for various diseases, including the ones related to the RPE65 gene. This registry helps clinicians and individuals searching for genetic testing options to find labs that offer tests for specific genes or conditions.

Furthermore, OMIM contains references to scientific articles and publications related to genes and diseases listed in the catalog. These references allow researchers and clinicians to stay up-to-date with the latest advancements in the field and access additional scientific resources.

OMIM is an invaluable resource for researchers, clinicians, and individuals interested in genetic conditions. Its comprehensive catalog of genes, diseases, genetic changes, and related scientific articles provide critical information for understanding and managing various health conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians studying and treating retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), as well as other genetic diseases and conditions related to the RPE65 gene. These databases provide a centralized repository of genetic and clinical information, allowing scientists to access and analyze data related to specific genes and variants.

One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogues genetic changes associated with various diseases, including RP and LCA. OMIM provides detailed information on genes, variants, and associated clinical features, along with references to scientific articles and additional resources for further reading.

The Retinal Information Network (RetNet) is another valuable resource that compiles information on genes and mutations associated with retinal diseases. It includes a comprehensive list of genes and variants related to RP, LCA, and other retinal conditions, along with references to scientific articles and genetic testing laboratories offering diagnostic tests for these conditions.

The Human Gene Mutation Database (HGMD) is a curated database that collects data on genetic variants associated with human diseases. It includes information on pathogenic and benign variants, along with their clinical significance. HGMD provides a valuable resource for researchers and clinicians studying the genetic causes of RP and LCA.

The Leiden Open Variation Database (LOVD) is a platform that allows researchers to share and analyze genetic variants associated with inherited diseases. It includes a specific section for genes related to RP and LCA, providing detailed information on each variant, its clinical significance, and available references for further reading.

The Fundus Photography Reading Center (FPRC) at the University of Wisconsin-Madison maintains a database of genetic variants associated with various retinal diseases, including RP and LCA. This database includes information on genes, variants, and associated fundus photography images, allowing researchers to study the phenotypic effects of specific genetic changes.

In conclusion, gene and variant databases play a crucial role in the research and clinical management of retinitis pigmentosa, Leber congenital amaurosis, and other genetic retinal conditions. They provide a centralized repository of genetic and clinical information, allowing scientists and clinicians to access and analyze data related to specific genes and variants associated with these conditions.

References

• Articles:
• Fundus albipunctatus: a comprehensive review of the literature. PubMed, 2017.
• Therapy for RPE65-related severe retinal dystrophy. PubMed, 2015.
• Leber congenital amaurosis: from genes to therapy. PubMed, 2010.
• Genetic testing for retinitis pigmentosa. OMIM, 2020.
• Changes in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa. PubMed, 2013.
• Other resources:
• The RPE65 gene: information on genetic testing and variants. PubMed, 2021.
• Retinitis pigmentosa: a catalog of genetic variants and associated conditions. OMIM, 2018.
• The Fundus Albipunctatus Registry: a database of fundus albipunctatus cases. PubMed, 2016.