The BEST1 gene is responsible for providing instructions for making a protein called bestrophin-1. Mutations in this gene have been linked to a variety of retinal disorders, including Best vitelliform macular dystrophy (BVMD), also known as Best disease, and autosomal recessive bestrophinopathy. BVMD is a genetic disorder that affects the macula, the part of the retina responsible for sharp central vision.

The BEST1 gene was first described in 1998 by Weber et al., and it is located on chromosome 11 at position q13.1. It is one of several genes associated with macular degeneration, including age-related macular degeneration (AMD) and Stargardt disease. Mutations in the BEST1 gene can cause a variety of changes in the retina, including the accumulation of lipofuscin pigment and the formation of drusen, which are deposits of extracellular material that can lead to vision loss.

Genetic testing for mutations in the BEST1 gene can be used to confirm a diagnosis of BVMD or other bestrophinopathies. Testing can also be helpful for assessing the risk of developing these conditions in people with a family history of retinal disorders. There are several databases and resources available for additional information on the BEST1 gene and related disorders, including the PubMed and OMIM databases.

In summary, the BEST1 gene is a key player in the development and function of the retinal pigment epithelium. Mutations in this gene can lead to various retinal disorders, including BVMD and autosomal recessive bestrophinopathy. Genetic testing can provide essential information about an individual’s risk and aid in making informed decisions about treatment and management options.

Health Conditions Related to Genetic Changes

The BEST1 gene is associated with several health conditions, mainly affecting the macular region of the eye. These conditions are often referred to as bestrophinopathies and are caused by genetic changes in the BEST1 gene.

One of the best-known disorders related to genetic changes in the BEST1 gene is Best vitelliform macular dystrophy (BVMD). It is an autosomal dominant disorder that affects the RPE (retinal pigment epithelium) of the macula. BVMD is characterized by the accumulation of lipofuscin and other substances in the RPE, leading to vision loss. The OMIM (Online Mendelian Inheritance in Man) catalog lists the genetic changes associated with BVMD and provides further information on the disorder. Testing for these genetic changes can be done to determine the risk of developing BVMD.

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Another disorder caused by genetic changes in the BEST1 gene is autosomal recessive bestrophinopathy (ARB). ARB is characterized by a range of signs and symptoms, including macular dystrophy, retinitis pigmentosa, and vitreoretinochoroidopathy. This condition affects the functions of the BEST1 gene, which encodes a channel protein that transports ions across the cell membrane. The genetic changes associated with ARB have been described in scientific articles and can be found in the OMIM catalog.

In addition to BVMD and ARB, the BEST1 gene has also been implicated in other macular dystrophies and age-related maculopathy. These conditions are characterized by changes in the macular region of the eye and can lead to vision loss. The exact genetic changes and their mechanisms of action in these disorders are still being investigated.

References:

• Tillack, H., et al. (2012). Autosomal recessive bestrophinopathy: an underestimated entity in inherited retinal dystrophies. Ophthalmologica, 227(1), 36-42. PMID: 22024608
• Renner, A. B., et al. (2009). Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. American Journal of Ophthalmology, 147(3), 518-530. PMID: 19081749
• Holder, G. E., et al. (2012). Best vitelliform macular dystrophy: a model for molecular diagnostics of inherited macular dystrophies. British Journal of Ophthalmology, 96(4), 498-502. PMID: 21911595

Vitelliform macular dystrophy

Vitelliform macular dystrophy (VMD) is a genetic disorder that affects the macula, a part of the retina responsible for central vision. It is also known as Best disease, after Friedrich Best who first described it in 1905. VMD is a rare inherited disorder and is most commonly passed down in an autosomal dominant pattern, although autosomal recessive inheritance can also occur.

Patient’s with VMD typically present with a bilateral symmetric accumulation of yellowish lipofuscin-containing material in the retinal pigment epithelium (RPE) known as a vitelliform lesion. These lesions are typically circular or oval in shape and vary in size from a few millimeters to several disc diameters. VMD is often first diagnosed in childhood or early adulthood and can progress to more advanced stages, such as atrophy of the RPE and choroid, leading to vision loss.

VMD is caused by mutations in the BEST1 (bestrophin 1) gene, which plays a role in ion channel function in the RPE cells. BEST1 gene mutations can also cause other related conditions, including autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, and autosomal dominant vitreoretinochoroidopathy. These conditions are collectively known as bestrophinopathies.

Genetic testing can confirm a diagnosis of VMD and identify the specific mutations in the BEST1 gene. This information can help guide patient management and treatment options. There are currently no specific treatments for VMD, but regular monitoring of vision and retinal changes is important for early detection of complications.

References:

1. Kellner et al. (2009). [Best disease and other vitelliform macular dystrophies](https://pubmed.ncbi.nlm.nih.gov/19753348/). Retinal Degeneration and Diseases.
2. Renner et al. (2010). [Vitelliform macular dystrophy: molecular genetics and emerging therapies](https://pubmed.ncbi.nlm.nih.gov/19817200/). Advances in Experimental Medicine and Biology.
3. Weber et al. (2002). [The molecular basis of human retinal and vitreoretinal diseases](https://pubmed.ncbi.nlm.nih.gov/12173048/). Retina.
4. Tillack et al. (2006). [Detection of novel mutations in the BEST1 gene in patients with Best vitelliform macular dystrophy](https://pubmed.ncbi.nlm.nih.gov/16384941/). Molecular Vision.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a progressive eye disease that affects the macula, the part of the retina responsible for central vision. It is the leading cause of vision loss in people over 50 years old. AMD is characterized by changes in the retinal pigment epithelium (RPE), drusen formation, and the growth of abnormal blood vessels under the retina.

The BEST1 gene, also known as bestrophin 1, has been linked to various retinal disorders, including AMD. BEST1 is located on chromosome 11 and encodes a protein that functions in the RPE. Mutations in the BEST1 gene can lead to Best vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy, retinitis pigmentosa, and other related disorders.

A variant of the BEST1 gene, probably caused by a recessive mutation, has been described in people with early-onset AMD. This variant is also associated with other retinal disorders, such as Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy.

Scientific studies have shown that changes in the BEST1 gene can increase the risk of developing AMD. The exact mechanisms by which these changes contribute to the development of the disease are still not clear. However, research suggests that the dysfunction of the BEST1 protein in the RPE may disrupt the normal function of the macula, leading to the degeneration of macular cells.

Several studies have investigated the role of the BEST1 gene in AMD and its related disorders. A study by Tillack et al. (2008) found a significant association between a particular variant of the BEST1 gene and AMD. This variant was also associated with other retinal disorders, including Best vitelliform macular dystrophy and adult-onset vitelliform macular dystrophy.

References to the BEST1 gene and its association with AMD can be found in various scientific databases and articles. The Oman Medical Journals Index (OMIM) and PubMed are excellent resources for finding more information about this topic. Additionally, the Retinal Information Network (www.sph.uth.tmc.edu/RetNet/) provides a comprehensive catalog of genes associated with retinal disorders, including AMD.

Autosomal dominant vitreoretinochoroidopathy

Autosomal dominant vitreoretinochoroidopathy is a genetic disorder that affects the retina, choroid, and vitreous of the eye. It is caused by mutations in the BEST1 gene.

This disorder is characterized by progressive degeneration of the retina and choroid, leading to vision loss. Symptoms typically appear in mid to late adulthood, although some cases may present earlier.

The BEST1 gene provides instructions for making a protein called bestrophin-1. This protein plays a role in the normal function of the retinal pigment epithelium, a layer of cells in the retina that supports and nourishes the light-sensitive cells. Mutations in the BEST1 gene can disrupt the function of bestrophin-1, leading to the development of autosomal dominant vitreoretinochoroidopathy.

There are four clear references to the BEST1 gene in relation to autosomal dominant vitreoretinochoroidopathy:

• Renner et al. (2009) described mutations in the BEST1 gene associated with autosomal dominant vitreoretinochoroidopathy.
• Tillack et al. (2011) conducted genetic testing in people with autosomal dominant vitreoretinochoroidopathy and found mutations in the BEST1 gene.
• Holder et al. (2013) reported additional mutations in the BEST1 gene in patients with autosomal dominant vitreoretinochoroidopathy.
• Kellner et al. (2017) conducted whole exome sequencing in patients with autosomal dominant vitreoretinochoroidopathy and identified mutations in the BEST1 gene.

These studies provide valuable information about the role of the BEST1 gene in autosomal dominant vitreoretinochoroidopathy. They also highlight the importance of genetic testing in diagnosing and managing this condition.

In addition to autosomal dominant vitreoretinochoroidopathy, mutations in the BEST1 gene have also been associated with other retinal diseases, such as vitelliform macular dystrophy and retinitis pigmentosa.

To learn more about the BEST1 gene and its associated conditions, interested individuals can refer to online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information about the genetic basis, clinical features, and management of various health conditions.

Retinitis Pigmentosa

Retinitis pigmentosa is a group of genetic disorders that cause the degeneration of the light-sensitive cells in the retina, leading to vision loss and eventual blindness. The disease is characterized by the presence of pigmented spots in the retina, which give the disorder its name.

One of the genes associated with retinitis pigmentosa is the BEST1 gene, which produces a protein called bestrophin. This protein is primarily expressed in the retinal pigment epithelium (RPE) and plays a crucial role in maintaining the health and function of the photoreceptor cells.

While bestrophinopathy is primarily associated with maculopathy and vitelliform dystrophy, changes in the BEST1 gene have also been linked to retinitis pigmentosa. The exact mechanism through which these changes cause retinitis pigmentosa is not yet clear, but it is believed that they disrupt the normal function of bestrophin and contribute to the degeneration of the retina.

Retinitis pigmentosa is an inherited disorder, and there are several other genes that are known to cause the condition. These include the RHO gene, which encodes a protein called rhodopsin, and the RPGR gene, which is involved in the function of photoreceptor cells. Testing for changes in these genes, as well as the BEST1 gene, can help diagnose retinitis pigmentosa and provide additional information about the specific genetic cause of the disease.

Several databases and resources are available for accessing information related to retinitis pigmentosa and other associated disorders. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides detailed information on genes and genetic disorders. Additionally, the RetNet database and the National Institutes of Health (NIH) Genetics Home Reference offer valuable resources for information on retinal diseases.

In conclusion, retinitis pigmentosa is a complex genetic disorder that can be caused by changes in various genes, including the BEST1 gene. The disease is characterized by the degeneration of retinal cells and the eventual loss of vision. Testing for genetic changes in these genes can help diagnose the condition and provide important information about the specific genetic cause of the disease.

Other disorders

There are several other disorders and diseases that are caused by genetic changes in the BEST1 gene. These disorders affect people in different ways and can have varying severity.

One of the disorders linked to the BEST1 gene is vitelliform macular dystrophy, also known as Best vitelliform macular dystrophy or Best disease. This disorder is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the condition on to their children. Best vitelliform macular dystrophy affects the macula, which is responsible for sharp central vision. Symptoms of this disorder can include decreased central vision and distortions in color perception.

Vitreoretinochoroidopathy is another disorder associated with changes in the BEST1 gene. This condition is characterized by the abnormal development of the vitreous, retina, and choroid. It can cause symptoms such as reduced visual acuity, night blindness, and peripheral visual field loss. Vitreoretinochoroidopathy is also inherited in an autosomal dominant manner.

Other disorders caused by genetic changes in the BEST1 gene include Bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. These disorders are characterized by similar symptoms as vitreoretinochoroidopathy, including visual impairment and changes in visual fields.

In addition to these disorders, the BEST1 gene has also been associated with other genetic conditions such as age-related macular degeneration and retinitis pigmentosa. Age-related macular degeneration is a common cause of vision loss in older adults, while retinitis pigmentosa is a group of genetic disorders that cause degeneration of the retina, leading to progressive vision loss.

Genetic testing for mutations in the BEST1 gene can be done to confirm a diagnosis of these disorders. This testing can be done using various methods, including DNA sequencing and genetic panels that analyze multiple genes at once. Testing can be helpful for affected individuals and their families in understanding the cause of the disorder and planning for future healthcare needs.

For more information on these disorders and the BEST1 gene, additional references and resources are available. PubMed is a great resource to search for scientific articles on these topics, using keywords such as “BEST1 gene” and the specific disorder or disease name. The Online Mendelian Inheritance in Man (OMIM) catalog also provides detailed information on genetic disorders and the genes that cause them.

Other Names for This Gene

• Bestrophin-1 holder of retinitis pigmentosa and vitelliform macular dystrophy
• Bestrophin-1 retinitis pigmentosa and vitelliform macular dystrophy 2
• Bestrophin-1 vitreoretinochoroidopathy, autosomal dominant
• BEST1 channel protein (retina)
• BEST1 MACULAR DYSTROPHY
• BEST1 MACULAR DYSTROPHY 1
• BEST1 MACULOPATHY
• BEST1-channel N-terminus on chromosome 11
• BEST1 gene for bestrophin 1
• BEST1 vitelliform macular dystrophy
• RP50 (mapped to)
• VMD2 bestrophin 1
• VRCH, autosomal dominant (mapped to)

The BEST1 gene, also known by other names such as Bestrophin-1 holder of retinitis pigmentosa and vitelliform macular dystrophy, is a gene that encodes the protein Bestrophin-1. This protein is responsible for the normal function of retinal pigment epithelium and plays an important role in maintaining the health of the macular region of the retina. The Bestrophin-1 protein functions as a chloride channel, allowing the flow of chloride ions in and out of cells.

Changes or mutations in the BEST1 gene are associated with various genetic disorders, including Best vitelliform macular dystrophy and autosomal dominant vitreoretinochoroidopathy. These disorders are characterized by abnormalities in the macular region of the retina, leading to vision impairments.

Scientific studies have described the association of the BEST1 gene with other macular diseases, including age-related macular degeneration and retinitis pigmentosa. The identification of changes in the BEST1 gene provides valuable information for genetic testing and diagnosis of these disorders.

Articles and scientific papers often cite the BEST1 gene in relation to its functions and its role in various macular disorders. The Bestrophin-1 protein and its gene are the focus of ongoing research to better understand their functions and develop potential treatments for associated diseases.

Additional Information Resources

Here is a list of additional resources that provide information about the BEST1 gene and related disorders:

1. PubMed: The PubMed database is a valuable resource for accessing scientific articles and studies related to the BEST1 gene. It contains a wealth of information on the function of the gene and its involvement in various retinal dystrophy disorders.
2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic disorders, including those associated with the BEST1 gene. It lists the different names and variant forms of the gene as well as the diseases it can cause.
3. PubMed for Kellner et al., 1996: This specific article published by Kellner et al. in 1996 provides insights into the link between the BEST1 gene and Best vitelliform macular dystrophy, also known as Best disease.
4. PubMed for Petrukhin et al., 1998: Another important article by Petrukhin et al. in 1998 explores the function of the BEST1 gene and its association with retinal dystrophy, specifically autosomal dominant vitreoretinochoroidopathy.
5. Weber et al., 1994: This study by Weber et al. published in 1994 investigates the role of the BEST1 gene in age-related macular degeneration and other maculopathies.

In addition to these scientific databases and articles, it is also helpful to consult genetic disorder resources, such as health information websites and genetic testing providers, for detailed information about specific disorders associated with the BEST1 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central registry that provides information about genetic tests for a variety of conditions. This registry is constantly updated as new tests and changes in existing tests are reported.

The GTR lists several tests related to the BEST1 gene which is associated with various retinal disorders. These disorders include bestrophinopathy, Best vitelliform macular dystrophy, central areolar choroidal dystrophy, enhanced S-cone syndrome, vitreoretinochoroidopathy, and others.

One of the listed tests in the GTR is for Best vitelliform macular dystrophy, which is a dominant inheritance disorder characterized by the accumulation of lipofuscin in the retinal pigment epithelium. This test detects variants in the BEST1 gene, which encodes for the bestrophin protein that functions as a chloride channel in the retinal pigment epithelium.

Another listed test is for vitreoretinochoroidopathy, which is a disorder characterized by abnormal blood vessels in the choroid, retina, and vitreous. This test also detects variants in the BEST1 gene.

The GTR provides additional information about these tests, including clinical utility, test availability, and associated conditions. It also includes citation information, such as PubMed ID, for further reading and research.

Overall, the GTR serves as a comprehensive catalog of genetic tests for various genetic conditions, including those related to the BEST1 gene. It is a valuable resource for healthcare professionals, researchers, and people interested in understanding the genetic basis of retinal disorders and their associated risks.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to various topics. In the case of the BEST1 gene, PubMed provides a comprehensive catalog of articles that discuss its function, associated diseases, and potential therapeutic approaches.

The BEST1 gene, also known as bestrophin-1, is one of the genes associated with Best vitelliform macular dystrophy. This disorder is characterized by the formation of yellowish deposits under the retina, leading to vision loss. Studies have linked mutations in the BEST1 gene to the development of this condition.

A study by Renner and Marmorstein (2006) described a dominant form of vitreoretinochoroidopathy associated with changes in the BEST1 gene. This variant was found in a family with inherited macular degeneration. The researchers performed genetic tests and confirmed the presence of the mutation in affected individuals.

Kellner et al. (2009) reported a recessive form of Best vitelliform macular dystrophy caused by changes in the BEST1 gene. The researchers described the clinical and genetic characteristics of affected individuals and highlighted the importance of genetic testing in the diagnosis of this disorder.

Holder et al. (2001) described another variant of Best vitelliform macular dystrophy associated with changes in the BEST1 gene. This form is characterized by progressive vision loss and macular changes. The researchers conducted electrooculography tests and found abnormal results in affected individuals.

In addition to Best vitelliform macular dystrophy, mutations in the BEST1 gene have also been associated with other disorders. Weber et al. (2002) reported a case of autosomal recessive bestrophinopathy caused by changes in the BEST1 gene. This disorder is characterized by macular changes and progressive vision loss similar to Best vitelliform macular dystrophy.

Petrukhin et al. (1998) identified the BEST1 gene as the cause of a form of retinitis pigmentosa associated with macular involvement. This study provided important insights into the genetic basis of this condition and its association with BEST1 mutations.

Overall, the scientific articles available on PubMed provide valuable information about the role of the BEST1 gene in various macular disorders. They highlight the importance of genetic testing for accurate diagnosis and management of these conditions. The citations and references provided in these articles can serve as a starting point for researchers and healthcare professionals interested in learning more about the BEST1 gene and associated disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders and associated genes. The database contains a catalog of genes and diseases, including the BEST1 gene.

The BEST1 gene, also known as the bestrophin-1 gene, is associated with several conditions, including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, and autosomal dominant vitreoretinochoroidopathy.

Best vitelliform macular dystrophy is characterized by the accumulation of lipofuscin-like material in the retinal pigment epithelium, leading to vision loss. Autosomal recessive bestrophinopathy is an inherited disorder that affects the retinal pigment epithelium, causing impaired vision. Adult-onset vitelliform macular dystrophy is a late-onset form of the disease, while autosomal dominant vitreoretinochoroidopathy is a rare inherited disorder affecting the retina and choroid.

The BEST1 gene codes for a protein called bestrophin-1, which functions as a chloride channel in the retinal pigment epithelium. Mutations in the BEST1 gene can disrupt the normal function of this protein, leading to the development of these retinal disorders.

OMIM provides detailed information about the genetics, clinical features, and management of these diseases. It also includes references to relevant articles from PubMed and other resources, giving researchers and healthcare professionals access to the latest research on these conditions.

In summary, the BEST1 gene is associated with several retinal disorders, including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, and autosomal dominant vitreoretinochoroidopathy. OMIM provides a comprehensive catalog of genes and diseases, as well as valuable information and resources for understanding and managing these genetic disorders.

Gene and Variant Databases

Gene and variant databases are important resources for researchers and clinicians studying genetic disorders. These databases provide information about genes and variants associated with different diseases and conditions. In the context of the BEST1 gene, several databases are available that contain information about the gene and its variants.

One of the most well-known databases is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information about genes and genetic disorders. OMIM includes a description of the BEST1 gene and its associated conditions, such as Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy.

Another database that contains information about the BEST1 gene is PubMed. PubMed is a scientific citation database that includes articles from peer-reviewed journals. Researchers can find articles related to the BEST1 gene and its variants by searching for relevant keywords, such as “BEST1 gene” or “Best vitelliform macular dystrophy”.

In addition to these general databases, there are also specific databases that focus on particular disorders or genes. For example, the Bestrophinopathy International Genetic Registry (BIGR) is a database specifically dedicated to collecting genetic information about Best vitelliform macular dystrophy and related conditions.

The BEST1 gene is associated with several macular degeneration disorders, including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, and adult-onset vitelliform macular dystrophy. These disorders are characterized by abnormal central macular function and can lead to vision loss.

Researchers have identified different variants in the BEST1 gene that can cause these disorders. Some of the known variants include missense mutations, frameshift mutations, and splicing mutations. These variants disrupt the normal function of the bestrophin-1 protein, which is encoded by the BEST1 gene and plays a crucial role in the maintenance of retinal health.

In summary, gene and variant databases provide valuable information about the BEST1 gene and its associated disorders. These databases help researchers and clinicians understand the genetic basis of macular degeneration and develop new diagnostic and therapeutic approaches for affected individuals.

References

• Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jan; 19(3):241-247. PMID: 9662395.

• Weber BH, Vogt G, Pruett RC, Stöhr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby’s fundus dystrophy. Nat Genet. 1994 Aug; 8(4):352-356. PMID: 7894484.

• Renner AB, Kellner U, Fiebig B, Cropp E, Foerster MH, Weber BH. Full-field electroretinogram in patients with mutations in the peripherin/RDS gene. Ophthalmology. 2004 Sep; 111(9):1565-1572. PMID: 15350318.

• Holder GE, Robson AG, Wright GA, Webster AR, Michaelides M, Moore AT. The natural history of inherited retinal dystrophy due to mutations in the peripherin/RDS gene. Invest Ophthalmol Vis Sci. 2012 Sep 13; 53(10):5454-5462. PMID: 22836763.

• Renner AB, Iuso A, Hufendiek K, Schu C, Costa N, Weber BH, Kellner U. The p.Gly56Arg Mutation in NR2E3 Leads to a Severely Impaired Rod Function but Preserved Cone Function. Invest Ophthalmol Vis Sci. 2011 Nov 3; 52(12):9139-9147. PMID: 22058339.

For additional scientific resources and genetic information on the BEST1 gene and related disorders, we recommend consulting the following databases:

• Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders:

These databases provide valuable information on the genetic causes, clinical features, and management of various genetic eye diseases, including those associated with the BEST1 gene. They can be valuable resources for healthcare professionals, researchers, and individuals seeking information on these conditions.