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The ABCA4 gene is a scientific term that refers to a gene associated with vision and the development of certain ocular diseases. It is primarily known for its role in causing retinitis pigmentosa, a genetic disorder that leads to the degeneration of photoreceptor cells in the retina.

ABCA4 belongs to a sub-family of genes involved in the process of phototransduction, which is responsible for converting light into electrical signals in the retina. Mutations in the ABCA4 gene can result in various forms of retinal degeneration, causing different diseases of visual impairment.

The ABCA4 gene is cataloged in several genetic databases, including OMIM and the Genetic Testing Registry. These resources provide additional information about the gene and the conditions related to genetic changes in ABCA4. Users can find articles, testing information, and references in these databases to learn more about the ABCA4 gene and the diseases it can cause.

One of the diseases associated with ABCA4 gene mutations is Stargardt macular degeneration, a genetic disorder that affects central vision. Another condition related to the ABCA4 gene is cone-rod dystrophy, which causes progressive vision loss affecting both central and peripheral vision.

For more information on the ABCA4 gene and related conditions, individuals can refer to online resources such as MedlinePlus and PubMed. These platforms provide articles, scientific studies, and other sources of information for further research and understanding.

Genetic changes in the ABCA4 gene have been associated with several health conditions related to vision and visual impairments. This gene is primarily involved in the process of phototransduction, which is essential for normal vision.

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One of the main conditions related to changes in the ABCA4 gene is Stargardt disease, which is an inherited form of macular degeneration. Macular degeneration refers to the deterioration of the central part of the retina, called the macula, which is responsible for sharp, central vision. Stargardt disease is typically an autosomal recessive condition, meaning that both copies of the ABCA4 gene must be affected for the disease to develop.

Another condition associated with genetic changes in the ABCA4 gene is cone-rod dystrophy. This condition affects both the cone and rod photoreceptor cells in the retina, leading to progressive vision loss. Cone cells are responsible for color vision and visual acuity, while rod cells are important for peripheral and low-light vision.

In addition to Stargardt disease and cone-rod dystrophy, genetic changes in the ABCA4 gene can also cause other forms of inherited retinal diseases, such as retinitis pigmentosa and n-retinylidene-pe. These conditions result in the progressive degeneration of the retina, leading to gradual vision loss.

Testing for genetic changes in the ABCA4 gene can be done through various resources, including genetic testing laboratories, research databases, and registries. These tests can detect specific variants or changes in the gene that are known to be associated with the development of these conditions. Additional information about genetic testing and resources can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and MedlinePlus.

References to scientific articles, health resources, and other databases can provide more detailed information on the different health conditions related to genetic changes in the ABCA4 gene. The Catalog of Human Genes and Genetic Disorders (OMIM) and PubMed are valuable sources for accessing relevant articles and research studies.

Resources:

  • OMIM (Online Mendelian Inheritance in Man) – Provides information on genetic diseases and genes
  • PubMed – Database of scientific articles and research studies
  • MedlinePlus – Health information from the United States National Library of Medicine

Cone-rod dystrophy

Cone-rod dystrophy is a genetic disease that affects the retina of the eye. It belongs to the sub-family of retinitis pigmentosa. Cone cells in the retina are responsible for color vision and central vision, while rod cells are responsible for peripheral and dim light vision.

This condition is caused by mutations in the ABCA4 gene. The ABCA4 gene provides instructions for making a protein that is involved in the visual cycle, specifically in the phototransduction process. The protein plays a critical role in the recycling of a molecule called 11-cis-retinal, which is essential for vision.

Cone-rod dystrophy can be inherited in an autosomal recessive pattern, meaning that both copies of the ABCA4 gene must be mutated for the disease to manifest. There are different variants of the ABCA4 gene that can cause this dystrophy, and the severity and age of onset of the disease can vary depending on the specific mutation.

Common symptoms of cone-rod dystrophy include decreased visual acuity, abnormal color vision, and sensitivity to light. As the disease progresses, there may be degeneration of the cone and rod cells in the retina, leading to further vision loss.

Diagnosis: Cone-rod dystrophy can be diagnosed through a comprehensive eye examination, visual acuity testing, color vision testing, and imaging studies of the retina. Genetic testing can be performed to identify mutations in the ABCA4 gene.

Treatment: Currently, there is no cure for cone-rod dystrophy. Treatment aims to manage the symptoms and slow down the progression of the disease. This may include the use of visual aids, low-vision rehabilitation, and genetic counseling for affected individuals and their families.

See also  AGL gene

Resources:

Stargardt macular degeneration

Stargardt macular degeneration is a genetic condition that affects the central vision. It is caused by mutations in the ABCA4 gene, which is involved in the phototransduction process in the retina. This gene belongs to the ABCA sub-family and is also known as the ABCR gene.

Stargardt macular degeneration is one of the most common causes of vision loss in children and young adults. It is characterized by progressive degeneration of the macula, the central area of the retina responsible for sharp, detailed vision. Symptoms include visual changes such as blurry or distorted vision, central blind spots, and difficulties with color perception.

Genetic testing for mutations in the ABCA4 gene can confirm a diagnosis of Stargardt macular degeneration. There are additional tests available to determine the specific variant of the ABCA4 gene that is causing the condition. Testing can also identify other genes that may be involved in macular degeneration, such as those associated with age-related macular degeneration or cone-rod dystrophy.

The OMIM (Online Mendelian Inheritance in Man) and MedlinePlus databases provide information on the ABCA4 gene and Stargardt macular degeneration. These resources catalog scientific articles, genetic testing information, and references to related diseases and conditions. The ABCA4 gene is also listed in the GeneTests and GeneReviews databases, which provide comprehensive information on genetic testing and related resources.

Genetic counseling is recommended for individuals with Stargardt macular degeneration and their family members. A genetic counselor can provide information about inheritance patterns, recurrence risks, and available testing options. Clinical trials and research studies are ongoing to explore potential treatments for Stargardt macular degeneration and related genetic conditions.

In summary, Stargardt macular degeneration is a genetic condition caused by mutations in the ABCA4 gene. It leads to progressive degeneration of the macula and central vision loss. Genetic testing and counseling are important for diagnosis and management of this condition.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a common and progressive degenerative eye condition that affects the macular region of the retina. The macula is responsible for central vision, which is necessary for tasks such as reading, driving, and recognizing faces.

AMD is the leading cause of vision loss and blindness in individuals over the age of 50 in developed countries. It is estimated that approximately 11 million people in the United States have some form of AMD, and this number is expected to increase as the population ages.

The exact cause of AMD is not fully understood, but it is believed to be a complex interaction between genetic and environmental factors. The ABCA4 gene has been associated with the development of AMD, as well as other retinal conditions such as retinitis pigmentosa and cone-rod dystrophy. Mutations in the ABCA4 gene can lead to changes in the process of phototransduction, which is crucial for the proper functioning of the retina.

Age-related macular degeneration can be classified into two types: dry AMD and wet AMD. Dry AMD is characterized by the presence of drusen, which are yellow deposits that accumulate in the macula. Wet AMD, on the other hand, is characterized by the growth of abnormal blood vessels under the macula, which can leak and cause damage to the surrounding tissue.

The diagnosis of AMD usually involves a comprehensive eye examination, including a visual acuity test, dilated fundus examination, and imaging tests such as optical coherence tomography (OCT) and fluorescein angiography.

Treatment options for AMD vary depending on the type and severity of the condition. For dry AMD, there is currently no cure, but lifestyle modifications and the use of certain nutritional supplements may help slow down its progression. Wet AMD can be treated with anti-vascular endothelial growth factor (VEGF) medications, laser therapy, or photodynamic therapy.

For additional information about age-related macular degeneration, you can visit the following resources:

These resources provide additional scientific and clinical information about the genetic and environmental factors, diagnostic testing, and treatment options related to age-related macular degeneration.

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of genetic diseases that cause the degeneration of the retina. It is characterized by the progressive loss of vision, usually starting with difficulty seeing at night and a reduced peripheral vision. RP affects the rod and cone cells in the retina, which are responsible for vision in low-light conditions and color vision, respectively. The condition can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

This condition is caused by changes (or mutations) in the ABCA4 gene, also known as the “n-retinylidene-PE” gene. The ABCA4 gene provides instructions for making a protein that is involved in the processing of a pigment called retinal, which is essential for normal vision. Mutations in the ABCA4 gene can lead to the accumulation of toxic byproducts in the retina, which can cause damage to the photoreceptor cells and lead to vision loss.

There are several tests available for the genetic testing of ABCA4 mutations, which can help diagnose RP and other related conditions such as Stargardt disease and cone-rod dystrophy. Genetic testing can provide valuable information about the specific genetic variant causing the condition and can be used for genetic counseling and family planning.

Additional resources for information about retinitis pigmentosa and genetic testing can be found on websites such as MedlinePlus, OMIM, and PubMed. These resources provide scientific articles, references, and other information about the condition and related genes. The Retinitis Pigmentosa Registry is also a valuable resource for patients and families affected by the condition, providing information about ongoing research, clinical trials, and support groups.

See also  C9orf72 gene

Resources for Retinitis Pigmentosa:
Resource Description
MedlinePlus Provides information about retinitis pigmentosa and other related conditions
OMIM A database of genes and genetic disorders
PubMed A database of scientific articles
Retinitis Pigmentosa Registry Provides information about ongoing research, clinical trials, and support groups

In conclusion, retinitis pigmentosa is a genetic condition that causes the degeneration of the retina and progressive loss of vision. It is caused by mutations in the ABCA4 gene, which is involved in the processing of retinal pigment. Genetic testing can help diagnose the condition and provide valuable information for genetic counseling. Various resources are available for additional information about retinitis pigmentosa and related genetic conditions.

Other Names for This Gene

The ABCA4 gene is also known by other names in the scientific community. These alternative names provide additional information and resources related to the gene. Some of the other names for the ABCA4 gene include:

  • Stargardt disease 1
  • Cone-rod dystrophy 3
  • Macular degeneration, age-related, 2
  • ABCR
  • ABCR1
  • ABCR2
  • RIM2
  • RP19
  • ABC10

These different names reflect the various conditions and diseases associated with changes in the ABCA4 gene. It has been found that mutations in this gene can cause a range of visual health conditions, including Stargardt disease, cone-rod dystrophy, and age-related macular degeneration.

For more information about these conditions and the genetic cause, several databases and resources can be consulted. Some of these include the Online Mendelian Inheritance in Man (OMIM), MedlinePlus, PubMed, and the Retinitis Pigmentosa (RP) Registry. These resources provide scientific articles, testing information, and references for articles related to the ABCA4 gene and its genetic variants.

Additional Information Resources

The ABCA4 gene is associated with various degenerative changes in the retina and is a sub-family member of the ABCA4 gene family. Mutations in this gene can cause a range of genetic diseases, such as cone-rod dystrophy, Stargardt disease, and recessive retinitis pigmentosa, which can lead to vision loss and visual impairment.

For more information about the ABCA4 gene and related conditions, the following resources provide additional information:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on the ABCA4 gene, including genetic testing and variant names. It also includes references to related articles and scientific research. (Website: https://www.omim.org/entry/601691)
  • PubMed: The PubMed database contains a vast collection of articles and studies related to the ABCA4 gene and its role in various retinal conditions. It is a valuable resource for those seeking more in-depth knowledge on this topic. (Website: https://pubmed.ncbi.nlm.nih.gov/?term=ABCA4+gene)
  • MedlinePlus: MedlinePlus, a service of the U.S. National Library of Medicine, provides information on a wide range of health conditions, including age-related macular degeneration and other retinal diseases. It offers accessible and reliable information for patients and their families. (Website: https://medlineplus.gov/)
  • The Macular Degeneration Registry: An online catalog of macular degeneration variants, the Macular Degeneration Registry lists genetic changes associated with this condition. It provides resources for researchers and clinicians working on macular degeneration. (Website: https://portal.macula.org/registry/home)

These resources offer a wealth of information on the ABCA4 gene, genetic testing, and other related conditions. They are valuable references for both researchers and individuals seeking to learn more about the causes and effects of vision-related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various diseases and conditions. This includes tests for the ABCA4 gene, which is associated with several vision-related disorders.

The ABCA4 gene is involved in the phototransduction process, which is essential for normal vision. Mutations in this gene can cause different retinal degeneration conditions, such as Stargardt disease, cone-rod dystrophy, and retinitis pigmentosa.

The GTR lists several tests for the ABCA4 gene, which can help identify specific genetic variants that may contribute to these diseases. These tests are helpful for individuals with a family history of the conditions or those experiencing visual changes.

Testing for the ABCA4 gene can be done through various scientific methods, including DNA sequencing and mutation analysis. These tests can detect different genetic variants in the gene and provide valuable information about the cause of the vision-related disorders.

The GTR provides additional resources for further information on the ABCA4 gene. It lists related articles from PubMed and OMIM, as well as references from other scientific databases. These resources offer more in-depth knowledge about the gene, its variants, and associated diseases.

Furthermore, the GTR provides links to other health information resources like MedlinePlus, which offers information about various genetic diseases and conditions. This can help individuals understand the implications of ABCA4 gene mutations and the impact on their vision and overall health.

Overall, the inclusion of ABCA4 gene tests in the Genetic Testing Registry highlights the importance of genetic testing in diagnosing and understanding age-related macular degeneration and other central visual degeneration conditions. These tests play a crucial role in identifying the genetic causes of these diseases and providing information for better management and treatment options.

Scientific Articles on PubMed

The ABCA4 gene, also known as the ABCR gene, is associated with several inherited retinal diseases, including Stargardt disease and age-related macular degeneration. Mutations in this gene can cause changes in the function of the phototransduction process, leading to vision loss and other visual impairments.

The PubMed database provides a comprehensive catalog of scientific articles related to the ABCA4 gene and its associated diseases. These articles cover a wide range of topics, including genetic testing, diagnostic procedures, and potential treatments for retinal degenerative disorders.

One of the main focuses of research is Stargardt disease, a juvenile-onset macular dystrophy. Numerous studies have investigated the genetic causes of this condition, as well as potential therapeutic approaches. The PubMed database contains a wealth of information on Stargardt disease, including clinical trials and case studies.

See also  FANCA gene

Additionally, the ABCA4 gene is linked to cone-rod dystrophy, another form of inherited retinal degeneration. Scientific articles on PubMed explore the various clinical features of cone-rod dystrophy, as well as the underlying genetic mechanisms.

For researchers and healthcare professionals interested in the ABCA4 gene, PubMed offers a centralized resource for accessing scientific literature on retinal degenerative disorders. The database provides information about genetic testing, diagnostic methods, and potential treatments for these conditions.

Furthermore, PubMed includes a list of other genetic databases and resources that can be utilized to further investigate the ABCA4 gene and its related diseases. These resources can provide additional information and references for those studying retinal degeneration and related genetic conditions.

In conclusion, the PubMed database is a valuable tool for accessing a wide range of scientific articles on the ABCA4 gene and its associated diseases. The platform provides researchers and healthcare professionals with essential information about genetic testing, diagnostic procedures, and potential treatments for retinal degenerative disorders.

Catalog of Genes and Diseases from OMIM

This catalog provides a comprehensive list of genes and diseases related to the ABCA4 gene from OMIM (Online Mendelian Inheritance in Man) database. This genetic database contains detailed information about various genetic conditions.

The ABCA4 gene is associated with several genetic diseases, including recessive cone-rod dystrophy, recessive Stargardt disease, age-related macular degeneration, and other macular degeneration variant conditions. Changes in this gene can cause phototransduction defects and lead to vision impairment.

OMIM is a valuable resource for scientific articles and references related to ABCA4 gene and the associated diseases. It provides additional information about diagnostic testing, genetic testing, and other resources available for the diagnosis and treatment of these conditions. The registry of related genes and diseases listed in OMIM has been compiled from various sources, including PubMed and MedlinePlus databases.

The OMIM database also contains information about other genes and diseases that are related to retinitis pigmentosa, macular degeneration, and other visual impairments. It offers comprehensive information about the genetic basis, clinical features, and inheritance patterns of these conditions.

For more information about specific genes and diseases, it is recommended to consult the OMIM database and other genetic resources. These resources provide an extensive collection of scientific articles, genetic testing information, and additional resources for individuals and healthcare professionals interested in the genetic causes of visual impairments and related conditions.

  • Recessive cone-rod dystrophy
  • Recessive Stargardt disease
  • Age-related macular degeneration
  • Other macular degeneration variant conditions
  1. Phototransduction defects
  2. Visual impairment

References:

  1. OMIM database – https://www.omim.org/
  2. PubMed – https://pubmed.ncbi.nlm.nih.gov/
  3. MedlinePlus – https://medlineplus.gov/

Gene and Variant Databases

Several gene and variant databases provide information about the ABCA4 gene and its associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various phototransduction and macular conditions.

Here are some of the notable databases and resources available:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genetic diseases, including information about the ABCA4 gene and its associated conditions. It includes detailed descriptions of clinical features, genetic changes, and references to scientific articles.
  • GeneTests: GeneTests offers information on genetic testing, including tests for ABCA4-related diseases such as Stargardt disease and cone-rod dystrophy. It provides a searchable database of laboratories offering genetic testing and the specific tests they offer.
  • MedlinePlus: MedlinePlus, a service of the U.S. National Library of Medicine, provides a wealth of information on health topics, including retinitis pigmentosa, macular degeneration, and other conditions related to the ABCA4 gene. It includes easy-to-understand articles, definitions, and links to additional resources.
  • PubMed: PubMed is a database of biomedical literature, including scientific articles about the ABCA4 gene and its role in various diseases. It allows users to search for articles and access abstracts or full-text versions.

These databases, along with others, offer a wealth of information related to the ABCA4 gene and its genetic variants. They serve as valuable resources for researchers studying the molecular mechanisms underlying phototransduction and macular conditions, as well as clinicians diagnosing and treating individuals with these genetic diseases.

References

  • ABCA4 gene – This article provides information about changes in the ABCA4 gene and its association with macular degeneration and other related genetic conditions.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases, including the ABCA4 gene and its related conditions.
  • Genetics Home Reference – The Genetics Home Reference website provides an overview of the ABCA4 gene and its role in various genetic conditions, including macular degeneration and retinitis pigmentosa.
  • Scientific Articles – PubMed is a comprehensive database of scientific articles that contains a wealth of information on the ABCA4 gene and its involvement in macular degeneration and other related conditions.
  • Gene Card – The Gene Card database provides detailed information on the ABCA4 gene, including its function, genetic variants, and links to other resources for further research.
  • Macular Degeneration – This article discusses the role of the ABCA4 gene in age-related macular degeneration and provides insights into potential therapeutic strategies.
  • Retinitis Pigmentosa – This article explores the association between the ABCA4 gene and retinitis pigmentosa, a genetic disorder characterized by progressive vision loss.
  • Cone-Rod Dystrophy – This study investigates the role of the ABCA4 gene in cone-rod dystrophy, a genetic condition that affects the function of cone and rod photoreceptor cells in the retina.
  • Genetic Testing – The Genetic Testing Registry provides a comprehensive catalog of genetic tests for the ABCA4 gene and other genetic conditions associated with vision and retinal degeneration.
  • MedlinePlus – MedlinePlus is a trusted source of health information that provides an overview of the ABCA4 gene, its function, and its involvement in various genetic conditions.

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