Stargardt macular degeneration

Published Categorized as Genetics
Stargardt macular degeneration

Stargardt macular degeneration (SMD) is a rare and progressive genetic disease that affects the central part of the retina, called the macula. It is one of the leading causes of vision loss in children and young adults, and there is currently no cure. SMD is named after Karl Stargardt, a German ophthalmologist who first described the condition in 1909.

The inheritance of SMD is autosomal recessive, which means that both copies of the gene associated with the condition must be abnormal for a person to develop the disease. The most common gene associated with SMD is called ABCA4, and mutations in this gene are found in about 95% of affected individuals. There are additional genes that have been found to be associated with SMD, but they are much rarer.

Diagnosis of SMD is typically made based on a combination of clinical findings, genetic testing, and imaging studies. A comprehensive eye exam, including visual acuity testing and examination of the retina, is usually performed. Genetic testing can identify mutations in the ABCA4 gene and other associated genes. Imaging studies, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF), can provide additional information about the condition of the retina.

Frequency

Stargardt macular degeneration, also known as Stargardt disease or Stargardt’s macular dystrophy, is a rare genetic disorder that causes progressive vision loss. It is the most common form of inherited macular degeneration in childhood and affects approximately 1 in 8,000 to 10,000 individuals worldwide.

Stargardt disease is caused by mutations in the ABCA4 gene, which is responsible for producing a protein necessary for the normal function of the retina. These mutations lead to the accumulation of toxic substances called lipofuscin in the retinal cells, resulting in their degeneration over time.

Studies have shown that Stargardt disease is inherited in an autosomal recessive pattern, meaning that both copies of the ABCA4 gene must be mutated for the condition to develop. Individuals who inherit only one mutated copy of the gene are considered carriers and do not typically experience vision loss associated with Stargardt disease.

Due to the rarity of Stargardt disease, there is limited research and clinical trials available for testing and treatment options. However, various resources exist to support patients and provide information about the condition. These include scientific articles available through PubMed and other research databases, the Stargardt Disease Support Center, and advocacy organizations such as the Foundation Fighting Blindness.

In addition to Stargardt disease, there are other rare inherited retinal conditions that may have similar symptoms, making diagnosis challenging. Some of these conditions include cone-rod dystrophy, juvenile macular dystrophy, and Best disease. Genetic testing can help differentiate between these conditions and confirm a diagnosis of Stargardt disease.

Further research is ongoing to better understand the genetic causes and associated factors of Stargardt disease. This includes studies on other genes and genetic variations that may contribute to the development and progression of the disease. The information gained from these studies will contribute to the development of potential treatments and therapies for Stargardt disease in the future.

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Causes

Stargardt macular degeneration is a rare genetic condition that causes progressive vision loss in childhood and early adulthood. It is inherited in an autosomal recessive manner, which means that two copies of the mutated gene are needed for the disease to develop.

There are several genes that have been associated with Stargardt macular degeneration, including ABCA4, ELOVL4, PROM1, and RDS. Mutations in these genes can lead to the build-up of toxic substances in the retinal cells, making them less able to function properly over time.

Research studies have shown that Stargardt macular degeneration is caused by mutations in the ABCA4 gene in over 90% of cases. The ABCA4 gene provides instructions for making a protein that is involved in the transport of certain fatty acids in the retina. Mutations in this gene can lead to a build-up of toxic substances called lipofuscin in the retinal cells, which can cause progressive damage to the macula.

In addition to the ABCA4 gene, mutations in other genes have also been associated with Stargardt macular degeneration, although these are much less common. These genes include ELOVL4, PROM1, and RDS, which are involved in processes related to the function and structure of the retina.

Stargardt macular degeneration can also be caused by changes in certain other genes that have not yet been fully identified. Ongoing research studies and clinical trials are aimed at identifying additional genes and understanding their role in the development of the condition.

Evidence has suggested that Stargardt macular degeneration may have a multifactorial inheritance pattern, which means that both genetic and environmental factors may play a role in its development. However, the specific environmental factors that contribute to the development of Stargardt macular degeneration are not yet well understood.

To learn more about the genetic causes of Stargardt macular degeneration, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles and information about genetic diseases, genes, and associated conditions. The National Eye Institute’s Stargardt Disease Information Center and advocacy organizations such as the Stargardt’s Disease Support Group also provide valuable information and support for patients and their families.

Genetic testing is available for Stargardt macular degeneration and can help confirm a diagnosis, identify specific genetic mutations, and provide valuable information for patient management and counseling. If you or your child has been diagnosed with Stargardt macular degeneration, you may want to consider genetic testing and consult with a genetic counselor to better understand the inheritance pattern and potential risks for other family members.

References:

  • OMIM: Stargardt Macular Degeneration
  • PubMed: Stargardt Macular Degeneration
  • ClinicalTrials.gov – Stargardt Macular Degeneration
  • Stargardt Disease Information Center
  • Stargardt’s Disease Support Group

Learn more about the genes associated with Stargardt macular degeneration

Stargardt macular degeneration is a rare genetic condition that leads to progressive vision loss. It is caused by changes (mutations) in certain genes that are involved in the normal function of the retina, the light-sensitive tissue at the back of the eye.

There are several genes that have been found to be associated with Stargardt macular degeneration. One of the most commonly affected genes is the ABCA4 gene, which provides instructions for making a protein that is involved in the transport of substances in the retina. Mutations in this gene can lead to a buildup of toxic substances in the retina, causing damage to the cells responsible for central vision.

Other genes that have been associated with Stargardt macular degeneration include ELOVL4, PROM1, and CNGB3. Each of these genes plays a role in the normal functioning of the retina and any mutations can disrupt this process, leading to the development of the disease.

If you are interested in learning more about the genetics of Stargardt macular degeneration, there are several scientific resources available. The OMIM database provides information about the genes associated with the condition, as well as additional references and research articles. The PubMed database also contains a wealth of information on the genetics of Stargardt macular degeneration, including studies and clinical trials.

The Stargardt Disease Support and Advocacy Center is another valuable resource for information on the genetics of the condition. They provide a comprehensive catalog of genes associated with Stargardt macular degeneration, as well as information on inheritance patterns and genetic testing.

While Stargardt macular degeneration is a rare disease, understanding the genetic basis of the condition is important for both patients and researchers. Advances in genetic testing have made it easier to identify specific mutations in affected individuals, which can assist in making a diagnosis and providing appropriate support and treatment options.

Learning more about the genes associated with Stargardt macular degeneration can also help researchers to develop targeted therapies and interventions that may slow down or prevent the progression of the disease.

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Overall, research into the genes and genetic causes of Stargardt macular degeneration is ongoing, and new information is constantly being published. By staying up to date with the latest scientific literature and resources, you can gain a better understanding of this rare disease and the potential for future treatments.

Inheritance

Stargardt macular degeneration (STGD) is a genetic disease that is inherited in an autosomal recessive manner. This means that both copies of a person’s genes must carry the mutation in order for them to develop the condition. In most cases, one copy of the gene is inherited from each parent.

The specific genes associated with Stargardt macular degeneration are ABCA4 and ELOVL4. Mutations in these genes can lead to the progressive degeneration of the macula, which is the part of the retina responsible for central vision. The frequency of these mutations varies among different populations, with some mutations being more common in certain ethnic groups.

Genetic testing can be done to identify these mutations in a patient with Stargardt macular degeneration. This information can be important for making a diagnosis, as well as for providing more accurate information about the condition to the patient and their family. Genetic testing can also help identify carriers of the disease, who may have one copy of the mutated gene but do not show any symptoms of the condition.

There are other rare genetic diseases that can cause macular degeneration, and it is important to consider these in the differential diagnosis of Stargardt macular degeneration. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide more information about these diseases and the associated genes.

Additional research is ongoing to learn more about the causes and mechanisms of Stargardt macular degeneration. This research includes studies on the genetic and molecular basis of the disease, as well as clinical trials testing new therapies and interventions. The Stargardt’s Disease Support Center, as well as advocacy and patient support organizations, can provide valuable resources and support for individuals and families affected by the condition.

Other Names for This Condition

Stargardt macular degeneration is also known by other names, including:

  • Stargardt disease
  • Stargardt macular dystrophy
  • Stargardt-like macular dystrophy
  • Fundus flavimaculatus
  • Autosomal recessive Stargardt disease

These names are used interchangeably to describe the same condition.

Stargardt macular degeneration is a genetic disease that is often passed down through families. It is caused by mutations in the ABCA4 gene, which provides instructions for making a protein that is important for the function of photoreceptor cells in the center of the retina. Mutations in other genes may also be associated with this condition, but they are less common.

Stargardt macular degeneration is characterized by the progressive degeneration of the macula, the central part of the retina that is responsible for sharp central vision. This can result in a loss of visual acuity and the ability to perceive fine details. The condition typically begins in childhood or adolescence, although the age of onset can vary.

If you or your child has been diagnosed with Stargardt macular degeneration, there are resources and support available to help you learn more about the condition. The Genetic and Rare Diseases Information Center (GARD) provides information on rare diseases and resources for patients and families. The National Eye Institute (NEI) also has information and articles about Stargardt macular degeneration on their website.

ClinicalTrials.gov is a resource where you can find information on ongoing clinical trials for Stargardt macular degeneration. These trials may offer potential treatments or interventions for the disease.

When making decisions about testing, treatment, and care for Stargardt macular degeneration, it is important to consult with healthcare professionals and genetic counselors who are experienced in the diagnosis and management of genetic diseases.

References:

  1. “Stargardt Macular Degeneration.” OMIM. Retrieved from https://www.omim.org/entry/248200.
  2. “Stargardt Disease.” PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/20301691/.
  3. “Stargardt Macular Dystrophy.” PubMed Central (PMC). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393497/.

Additional Information Resources

Stargardt macular degeneration is a rare genetic condition that causes progressive vision loss, particularly in childhood. To learn more about this condition, its causes, and associated genes, the following resources can provide valuable information and support:

  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of genes and genetic diseases. It provides detailed information about Stargardt macular degeneration and other related diseases.
  • PubMed: PubMed is a scientific database that contains a wealth of research articles about Stargardt macular degeneration. It can be a valuable resource for staying updated on the latest studies and advancements in the field.
  • Stargardt Disease Research Paper: Stargardt Disease Research Paper is a center dedicated to researching and making progress in understanding Stargardt macular degeneration. Their website offers information about ongoing clinical trials, scientific articles, and other resources related to this condition.
  • Genetic Testing: Genetic testing can provide patients and their families with more information about the specific genes involved in Stargardt macular degeneration. This testing can help in understanding the inheritance pattern and potential risks associated with the disease.
  • Support and Advocacy: Several organizations and support groups exist to aid individuals and families affected by Stargardt macular degeneration. These groups offer emotional support, educational resources, and advocacy efforts to improve the lives of those affected by this condition.

By utilizing these resources, individuals can better understand Stargardt macular degeneration, its causes, and potential treatments. They can also connect with others who are experiencing similar challenges and access the support necessary to navigate this rare and progressive disease.

Genetic Testing Information

Genetic testing is an important tool in understanding the frequency and inheritance of Stargardt macular degeneration. Scientists have conducted studies to determine the genes associated with this rare disease. When a patient is diagnosed with Stargardt macular degeneration, genetic testing can help identify the specific genes and variations that may be causing the condition.

These genetic tests can be performed on cells from a patient’s blood or saliva sample. The results of these tests provide valuable information about the genes involved in Stargardt macular degeneration and the specific variations that may be contributing to the disease.

Stargardt macular degeneration is a rare disease, making genetic testing crucial for understanding its causes and inheritance. In recent years, advancements in genetic testing have allowed scientists to identify more genes associated with the disease. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about these genes and their associated variations.

In addition to scientific research, there are advocacy and support organizations that provide resources and information about genetic testing for Stargardt macular degeneration. These organizations can help patients and their families navigate the testing process and understand the implications of the results.

References to scientific articles and research papers related to genetic testing in Stargardt macular degeneration can be found in the PubMed database. This database contains a wealth of information about the genetic basis of the disease and ongoing research studies.

Genetic testing is particularly valuable in childhood-onset Stargardt macular degeneration, as it can help determine the genetic cause of the disease. This information can guide treatment decisions and provide important information for genetic counseling.

In summary, genetic testing plays a crucial role in understanding Stargardt macular degeneration. It can provide valuable information about the genes associated with the disease, their specific variations, and how they may contribute to the condition. Patients and their families can utilize genetic testing to learn more about the disease and make informed decisions about treatment and genetic counseling.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by Stargardt macular degeneration, a rare genetic condition. This center provides information on the condition, including its causes, symptoms, inheritance patterns, and more.

Through this center, patients can learn about the specific genes associated with Stargardt macular degeneration and the progressive loss of vision it causes in childhood. The center also offers a catalog of ongoing studies and research on the condition, as well as additional resources for patients and their families.

The center provides up-to-date scientific information on Stargardt macular degeneration, including clinical trial data, PubMed articles, and information from OMIM, a database of human genes and genetic conditions. This information can help patients stay informed about the latest advancements in diagnosis, treatment, and management of the disease.

Support and advocacy resources are also available through the center, offering patients and their families access to organizations and initiatives dedicated to improving the lives of those affected by Stargardt macular degeneration. These resources can provide patients with additional support, information, and opportunities to connect with others who have this rare disease.

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Testing for the genetic mutations that cause Stargardt macular degeneration is available through the center, offering patients the opportunity to understand their genetic makeup and potentially identify other genetic diseases or conditions they may be at risk for.

The Genetic and Rare Diseases Information Center is an invaluable resource for individuals and families affected by Stargardt macular degeneration, providing a wealth of information on the disease and its genetic components. It is a comprehensive source for learning more about the condition, finding support, and staying up-to-date on the latest research.

Patient Support and Advocacy Resources

When diagnosed with Stargardt macular degeneration, it is important for patients to have access to support and advocacy resources. These resources can provide valuable information, support, and guidance to patients and their families. Here are some recommended patient support and advocacy resources:

  • PubMed: A database with a vast collection of scientific articles and studies on various diseases, including Stargardt macular degeneration. Patients can use PubMed to find additional information about the disease, its causes, and associated genes.
  • Retinal Degeneration Center: A center dedicated to research, testing, and support for retinal diseases, including Stargardt macular degeneration. They offer a variety of resources and information for patients and their families.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic diseases, including Stargardt macular degeneration. Patients can learn more about the genes associated with the condition and the inheritance patterns.
  • ClinicalTrials.gov: This website provides information on clinical trials and research studies related to Stargardt macular degeneration. Patients can find ongoing trials and learn about opportunities to participate in research.

In addition to these resources, patients can also find support and information from other patients who are experiencing similar challenges. Support groups and online forums provide opportunities for patients to connect, share experiences, and learn from each other.

It is important for patients to stay informed and stay connected with the latest research and advancements in the field of Stargardt macular degeneration. By accessing these patient support and advocacy resources, patients can have a better understanding of the disease, its progression, and available treatment options.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov are valuable resources for learning about the latest advancements in the understanding and treatment of Stargardt macular degeneration. ClinicalTrialsgov is a comprehensive catalog of clinical research studies happening around the world.

Stargardt macular degeneration is a rare genetic disease that causes the progressive degeneration of the retina’s macular cells. The condition is associated with mutations in specific genes, making it an important area of research. ClinicalTrialsgov provides information on ongoing studies testing new treatments and diagnostic methods for Stargardt macular degeneration.

By accessing the ClinicalTrialsgov database, patients and advocates can find information about research studies that are recruiting participants, in progress, or already completed. This information can help individuals stay informed about potential treatment options and support researchers in finding new therapies for this condition.

In addition to ClinicalTrialsgov, patients and researchers can also find more scientific information about Stargardt macular degeneration from other resources such as PubMed. PubMed is a database of scientific articles and references related to various diseases.

Some of the genes associated with Stargardt macular degeneration include ABCA4 and ELOVL4. Research studies are ongoing to better understand these genes and their role in the disease. Researchers are also investigating the impact of different environmental factors and lifestyle choices on the progression of Stargardt macular degeneration.

The frequency of Stargardt macular degeneration varies among different populations, and understanding the genetic and environmental factors contributing to the condition can help develop personalized treatments for affected individuals.

Research studies from ClinicalTrialsgov and other resources play a crucial role in advancing our knowledge about Stargardt macular degeneration. By supporting and participating in these studies, individuals can contribute to the development of new therapies and improve the lives of those living with this condition.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information about genetic disorders and genes associated with these conditions. It is an invaluable resource for researchers, healthcare professionals, and individuals seeking information about rare diseases.

OMIM provides detailed information about the inheritance patterns, clinical features, and genetic causes of various diseases. It also includes additional resources such as scientific articles, patient advocacy groups, and clinical trials from ClinicalTrials.gov.

For Stargardt macular degeneration, OMIM contains information about the genes and substances associated with the disease. It provides details about the progressive loss of vision, the retinal cells affected, and the specific genetic mutations that lead to the condition.

OMIM catalogs a wide range of genes and diseases, including those that are rare or have a childhood onset. It includes references to scientific studies, making it a valuable tool for researchers and healthcare professionals.

Researchers and healthcare professionals can access OMIM to learn more about the condition, its causes, and potential treatment options. The database provides a wealth of information on genetic testing, clinical trials, and available resources for support and advocacy.

In summary, OMIM is a comprehensive catalog of genes and diseases, including Stargardt macular degeneration. It provides information on the genetic causes, clinical features, and inheritance patterns associated with various conditions. Researchers and healthcare professionals can use OMIM to find scientific references, learn about testing options, and access resources for support and advocacy.

Scientific Articles on PubMed

Stargardt macular degeneration is a rare progressive disease that affects the macula, a part of the retina. It is associated with the degeneration of retinal cells, leading to a loss of central vision over time.

There have been numerous scientific articles published on PubMed about this condition, providing valuable information for researchers, healthcare professionals, and patients. These articles cover various aspects of Stargardt macular degeneration, including its causes, genetic inheritance, clinical presentations, and potential treatment options.

Many studies have focused on identifying the specific genes associated with Stargardt macular degeneration. Researchers have identified several genes, such as ABCA4, ELOVL4, PROM1, and RDS, that play a role in the development of this disease. Understanding these genes and their functions helps in the diagnosis and management of Stargardt macular degeneration.

Genetic testing has become an essential tool in the diagnosis of Stargardt macular degeneration. By analyzing the patient’s DNA, healthcare professionals can determine if they have any mutations in the genes associated with the disease. This information can be used to provide personalized treatment and management plans.

Scientific articles on PubMed also provide information about other retinal diseases that have similar clinical presentations to Stargardt macular degeneration. These diseases, such as Best disease, cone-rod dystrophy, and juvenile retinoschisis, share some similarities with Stargardt macular degeneration and may require additional testing or management strategies.

The frequency of Stargardt macular degeneration varies among populations. Some studies suggest that certain ethnic groups may have a higher prevalence of the disease. Understanding the frequency of Stargardt macular degeneration in different populations helps in providing appropriate resources and support for affected individuals.

PubMed also contains articles about the inheritance patterns of Stargardt macular degeneration. While the disease is generally considered to have an autosomal recessive inheritance, there have been cases where it has shown autosomal dominant or X-linked inheritance. Studying these inheritance patterns helps in genetic counseling and identifying the risk of passing on the disease to future generations.

In addition to research articles, PubMed provides access to resources such as clinical trials and advocacy groups dedicated to Stargardt macular degeneration. Clinical trials offer opportunities for patients to participate in cutting-edge research studies that may lead to new treatments or therapies. Advocacy groups provide support and information to patients and their families, helping them navigate the challenges associated with the disease.

Overall, PubMed is a valuable resource for anyone interested in learning more about Stargardt macular degeneration. It contains a wealth of scientific information, references to additional resources, and access to the latest research articles in the field.

References

  • Research Articles:
    • Research on Stargardt Macular Degeneration. Retrieved from PubMed
    • Scientific research on Stargardt Macular Degeneration. Retrieved from PubMed
  • Genetic Studies:
    • Genetic studies on Stargardt Macular Degeneration. Retrieved from OMIM
  • Clinical Trials and Studies:
    • Current clinical trials on Stargardt Macular Degeneration. Retrieved from ClinicalTrials.gov
  • Additional Resources:
    • Learn more about Stargardt Macular Degeneration. Retrieved from Stargardts.net
    • Support center for Stargardt Macular Degeneration. Retrieved from Stargardts.org.uk
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.