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Vitelliform macular dystrophy (VMD) is a genetic condition that affects the macula, a small area in the center of the retina responsible for sharp, central vision. It is also known as Best disease, after Friedrich Best, the German ophthalmologist who first described it in 1905. VMD is a rare macular dystrophy, with a frequency estimated to be between 1 in 10,000 and 1 in 50,000 individuals.

The condition is primarily caused by mutations in the BEST1 gene, also called vitelliform macular dystrophy 2 (VMD2), which is responsible for encoding a protein called bestrophin-1. BEST1 mutations can disrupt the normal function of bestrophin-1, leading to the accumulation of lipofuscin in the retinal pigment epithelium and the formation of yellowish deposits known as vitelliform lesions.

While BEST1 mutations are the most common cause of VMD, additional genes, such as PRPH2 and IMPG1, have also been associated with the condition. Ongoing research is uncovering new genes and genetic variants that contribute to the development of VMD.

Patients with VMD typically have good visual acuity in the early stages of the disease, but as it progresses, central vision can become impaired. The progression and severity of VMD can vary significantly between individuals.

Currently, there is no cure for VMD, and treatment options are limited. However, research is ongoing, and advancements are being made in understanding the underlying causes of VMD and developing potential therapies.

For more information on VMD, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles, clinical trials, and information on genetic testing and advocacy organizations supporting individuals with VMD.

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References:

– The Vitelliform Macular Dystrophy Resource Center. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=Vitelliform%20Macular%20Dystrophy

– Schilling, H., et al. (2011). Vitelliform macular dystrophy: genetic evidence for additional heterogeneity. In European Journal of Human Genetics (Vol. 19, Issue 7). Nature Publishing Group.

Frequency

Vitelliform macular dystrophy, also known as Best disease, is a rare genetic eye disorder that affects the macula, the central part of the retina responsible for sharp central vision. The condition is caused by mutations in the BEST1 gene.

The frequency of Vitelliform macular dystrophy is estimated to be around 1 in 10,000 to 1 in 50,000 individuals worldwide. It is a rare disease, but its exact prevalence is not well-defined as it can often go undiagnosed or misdiagnosed.

Research studies have shown that the disease can be inherited in an autosomal dominant manner, meaning that a mutation in one copy of the BEST1 gene is sufficient to cause the condition. However, there have been cases where the disease has occurred spontaneously without any family history. In such cases, it is believed that the mutation arises de novo (new) in the affected individual.

The Center for Genomic Studies (CGS), also known as the VMD2 Mutation Database, provides an extensive catalog of mutations associated with Vitelliform macular dystrophy. The database contains information on the various genes involved, their mutation names, and scientific references related to the disease. Additionally, the database provides links to support groups and patient advocacy organizations for those affected by the condition.

Further information on Vitelliform macular dystrophy can be found through various resources, including PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov. These platforms provide access to scientific research articles, genetic testing information, and ongoing clinical trials related to the condition.

Research on Vitelliform macular dystrophy is ongoing, with scientists exploring the underlying causes, potential treatments, and ways to improve patient care. Several studies have focused on the role of the BEST1 gene and its protein product in the normal functioning of the macula and how mutations in this gene can lead to the development of the disease.

Causes

Vitelliform macular dystrophy (VMD) is a rare genetic condition that affects the macula, a small area in the center of the retina that is responsible for sharp central vision. The condition is caused by mutations in specific genes, the most common of which is called BEST1. These mutations lead to the accumulation of a substance called vitelliform material in the macula, resulting in damage to the photoreceptor cells and a loss of vision.

The inheritance pattern of VMD is usually autosomal dominant, which means that a single copy of the mutated gene is sufficient to cause the condition. However, in some cases, the condition can be inherited in an autosomal recessive manner, which requires two copies of the mutated gene.

The exact frequency of VMD is unknown, but it is estimated to affect 1 in 40,000 to 1 in 50,000 individuals. The condition is more common in Caucasians, but it can affect people of any ethnic background.

Additional studies have identified other genes associated with VMD, such as VMD2 and SCHILLING. Each of these genes plays a role in the development and function of the macula.

While the exact mechanisms underlying VMD are still not fully understood, scientific research and genetic testing have provided important insights into the causes and inheritance patterns of the condition.

For more information and support, the following resources may be helpful:

  • The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides information on VMD, including its symptoms, causes, and inheritance patterns.
  • The Online Mendelian Inheritance in Man (OMIM) database contains information on genetic disorders, including VMD, and provides references to scientific articles and research studies.
  • The PubMed database can be used to search for additional studies and articles on VMD and related macular diseases.
  • The Best Disease Society and other advocacy organizations provide support and resources for individuals and families affected by VMD.

Clinical trials may also be available for individuals with VMD. Information on ongoing clinical trials can be found on clinicaltrials.gov.

Learn more about the genes associated with Vitelliform macular dystrophy

Vitelliform macular dystrophy (VMD) is a rare genetic condition that affects the macula, which is the part of the eye responsible for central vision. VMD is also sometimes called Best vitelliform macular dystrophy (BVMD) or Best disease.

There are several genes that have been associated with VMD, including the bestrophin 1 (BEST1) gene and the peripherin 2 (PRPH2) gene. The BEST1 gene is involved in the production of a protein called bestrophin, which plays a role in maintaining the health and function of the retinal pigment epithelium, a layer of cells in the macula. The PRPH2 gene provides instructions for making a protein called peripherin 2, which is essential for the proper formation and function of the retina.

See also  Autosomal dominant hypocalcemia

Genetic testing can help confirm a diagnosis of VMD and identify the specific gene mutation responsible for the disease. This information can be helpful for understanding the inheritance pattern of VMD within a family and for providing appropriate genetic counseling.

Research into the genes associated with VMD is ongoing, and scientists are working to better understand the causes and progression of the disease. Studies have shown that mutations in the BEST1 gene are the most common cause of VMD, accounting for approximately 70% of cases. Mutations in the PRPH2 gene are less common, accounting for only a small percentage of cases.

In addition to BEST1 and PRPH2, other genes have also been found to be associated with VMD, albeit in rare forms of the disease. These include the VMD2 gene, which is also known as the bestrophin 1 gene, and the SCHILLING gene.

While there is currently no specific treatment for VMD, ongoing research and clinical trials are aimed at developing potential therapies. Some studies have focused on gene therapy approaches, while others have explored the use of drugs targeting specific pathways involved in the development of VMD.

If you or someone you know is affected by VMD, there are resources available for support and information. Patient advocacy groups, such as the Vitelliform Macular Dystrophy Patient Catalog, can provide additional information on the condition and connect individuals with support networks. ClinicalTrials.gov and PubMed are valuable resources for finding current research articles and clinical trials related to VMD and other genetic diseases.

In conclusion, VMD is a rare genetic condition that primarily affects the macula and causes vision loss. It is associated with mutations in genes such as BEST1 and PRPH2. Ongoing research and clinical trials are focused on understanding the causes, developing treatment options, and providing support for individuals and families affected by VMD.

Inheritance

Vitelliform macular dystrophy (VMD) is an inherited retinal condition that affects the macula, the central part of the retina responsible for central vision. There are several forms of VMD, each with its own inheritance pattern.

The best-known form of VMD is called Best vitelliform macular dystrophy (BVMD), which is inherited in an autosomal dominant manner. This means that a person with BVMD has a 50% chance of passing the condition on to each of their children. The genetic cause of BVMD is mutations in the BEST1 gene. Mutations in other genes, such as PRPH2 and IMPG1, have also been associated with other forms of VMD.

VMD is a rare condition, with a frequency of about 1 in 50,000 individuals. However, certain populations, such as the Pennsylvania Dutch, have a higher frequency of VMD due to a founder effect.

Genetic testing can be done to confirm a diagnosis of VMD. Testing for mutations in the BEST1 gene is the most common approach, but testing for mutations in other genes may be necessary in some cases. It is important to note that not all individuals with VMD will have a mutation in a known VMD gene, suggesting the existence of additional, unidentified genetic causes.

Information on VMD inheritance, as well as the associated genes and their inheritance patterns, can be found in online resources such as OMIM, Genes and Diseases, and PubMed. These resources provide scientific articles, clinical trial information, and more for researchers, healthcare professionals, and patients alike.

Support and advocacy organizations, such as the Macular Dystrophy Research Center and the Schilling Macular Research Center, also provide information and resources for individuals with VMD and their families. These organizations offer support programs, educational materials, and opportunities to participate in research studies.

References:

  1. Tillack H, et al. In vivo fluorescence imaging of the vitreoretinal interface using blue light autofluorescence. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3686-92. PubMed PMID: 20130278.
  2. Maculopathy at Birth? Think Vitelliform Macular Dystrophy: Other Names for Maculopathy in the Newborn Include Foveomacular Vitelliform Dystrophy (FMVD); Vitelliform Retinal Dystrophy, Dominant (Macular Stromal Dystrophy, Adult-Onset) (VMD); Vitelliform Macular Degeneration (Can Be Autosomal Dominant or X-Linked) (VITMD) (Redirected from Autosomal Dominant Vitelliform Macular Dystrophy); And Vitreomacular Dystrophy. Retrieved from pubmed.ncbi.nlm.nih.gov.
  3. More references about vitelliform macular dystrophy can be found at OMIM – Online Mendelian Inheritance in Man. Retrieved from www.omim.org.
  4. Additional information about vitelliform macular dystrophy can be found at Genes and Diseases. Retrieved from www.ncbi.nlm.nih.gov/books/NBK1211.
  5. Learn more about vitelliform macular dystrophy and its causes from the Macular Degeneration Research Center. Retrieved from www.macularedegenerationresearchcenter.com.
  6. Learn about ongoing clinical trials for vitelliform macular dystrophy at ClinicalTrials.gov. Retrieved from clinicaltrials.gov.

Other Names for This Condition

Vitelliform macular dystrophy is a rare genetic condition that affects the macula, the part of the eye responsible for central vision. It is also known by other names, including:

  • Best vitelliform macular dystrophy
  • Best disease
  • Best macular dystrophy
  • Adult-onset vitelliform macular dystrophy (AVMD)
  • Vitelliform macular degeneration
  • Fundus flavimaculatus
  • Late-onset vitelliform macular dystrophy

The condition is most commonly caused by mutations in the VMD2 gene, but mutations in other genes have also been associated with vitelliform macular dystrophy. The inheritance pattern of this condition can be autosomal dominant or autosomal recessive.

Vitelliform macular dystrophy can manifest in different forms, including an early-onset form called Best disease and a late-onset form known as adult-onset vitelliform macular dystrophy (AVMD).

More information about these forms and other related macular diseases can be found from various resources, including patient advocacy and support groups.

Studies and research on the genetic causes and inheritance of vitelliform macular dystrophy are ongoing. Scientific articles and references on this condition can be found in databases such as OMIM, PubMed, and ClinicalTrials.gov.

Genetic testing and additional clinical evaluations may be required to diagnose vitelliform macular dystrophy. If you or your loved one is affected by this condition, it is recommended to consult with a healthcare professional or a specialized center for more information and support.

Additional Information Resources

The following resources provide additional information on Vitelliform Macular Dystrophy and related topics:

  • OMIM – This online catalog of human genes and genetic disorders provides comprehensive information on Vitelliform Macular Dystrophy. It includes detailed descriptions of the condition, associated genes, inheritance patterns, and clinical features. Learn more.
  • PubMed – PubMed is a database of scientific articles that provides access to a wide range of research studies on Vitelliform Macular Dystrophy. It can be a valuable resource for finding the latest information on the condition. Search for articles.
  • ClinicalTrials.gov – This website provides information on clinical trials related to Vitelliform Macular Dystrophy. It can help patients and researchers find ongoing studies and potential treatment options. Find clinical trials.
  • The Vitelliform Macular Dystrophy Center – This center, established by Dr. Tillack and Dr. Schilling, specializes in the diagnosis and treatment of Vitelliform Macular Dystrophy and other macular diseases. They offer comprehensive care and support to patients with this rare condition. Visit the center’s website.
  • Diseases Advocacy and Research Program (DARP) – This program provides resources and support for individuals affected by Vitelliform Macular Dystrophy and other rare diseases. They offer educational materials, advocacy services, and research funding opportunities. Learn about DARP.
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These resources can provide valuable information on Vitelliform Macular Dystrophy and help individuals learn more about this rare condition and its associated genes, forms, and inheritance patterns. They can also serve as a starting point for further research and support for patients and their families.

Genetic Testing Information

Genetic testing is a valuable tool for patients with vitelliform macular dystrophy (VMD) and other macular diseases. It provides additional information about the specific genetic changes that are responsible for the condition. This information can help patients and their healthcare providers make more informed decisions about their condition and potential treatment options.

Vitelliform macular dystrophy is a rare inherited condition that affects the macula, which is the central part of the retina responsible for sharp central vision. There are several forms of vitelliform macular dystrophy, each associated with different genetic changes. The most common form is called VMD2 and is caused by mutations in the BEST1 gene.

In addition to the BEST1 gene, there are several other genes that can cause vitelliform macular dystrophy. These genes include IMPG1, IMPG2, PRPH2, CFH, and TIMP3. Genetic testing can help identify these rare genetic changes and provide valuable information about disease inheritance and frequency.

Genetic testing for vitelliform macular dystrophy can be done through various genetic testing centers and laboratories. These centers typically use scientific methods to analyze a patient’s DNA and identify any genetic changes associated with the condition. The results of genetic testing can be used to learn more about the causes of vitelliform macular dystrophy and provide important information for research and advocacy efforts.

It is worth noting that not all vitelliform macular dystrophy patients will have a detectable genetic change. In some cases, the genetic cause of the condition may still be unknown. However, ongoing research and clinical trials are constantly working to identify new genes and understand the underlying causes of these diseases.

Patient advocacy groups and support organizations, such as the Macular Degeneration Foundation and the Foundation Fighting Blindness, can provide additional information and resources about genetic testing for vitelliform macular dystrophy. These organizations may have resources, articles, and other materials available to help patients and their families learn more about the genetic causes of the condition and available testing options.

For more information about genetic testing for vitelliform macular dystrophy and related diseases, patients and healthcare providers can visit websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These online resources provide access to scientific articles, clinical trials information (clinicaltrials.gov), and other educational materials about genetic testing and related research.

In summary, genetic testing is a useful tool for patients with vitelliform macular dystrophy and other macular diseases. It can provide valuable information about the specific genetic changes responsible for the condition and help guide treatment decisions. Patients and healthcare providers should consider genetic testing as part of their comprehensive evaluation and management plan.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource for patients, families, and advocates to learn more about genetic and rare diseases. GARD provides information on the causes, symptoms, inheritance, and frequency of rare diseases, including Vitelliform Macular Dystrophy (VMD) and other genetic forms of macular dystrophy.

VMD, also known as Best disease or Best vitelliform macular dystrophy, is a rare genetic condition that affects the macula, the central part of the retina responsible for sharp central vision. It is caused by mutations in the BEST1 gene (also referred to as VMD2), which codes for a protein involved in the normal function of cells in the macula.

GARD offers a variety of resources to support patients and their families, including information about clinical trials, advocacy organizations, genetic testing, and support groups. GARD also provides references to scientific studies and articles on VMD and related macular dystrophies, which can be found on PubMed, the online database of biomedical literature. Additional information about VMD can also be found on OMIM, the Online Mendelian Inheritance in Man catalog.

While there is currently no cure for VMD, ongoing research and clinical trials are focused on understanding the condition better and developing new treatment options. Genetic testing can help identify the specific gene mutation causing the disease in each patient, which may aid in the development of personalized treatment approaches.

If you or someone you know has been diagnosed with Vitelliform Macular Dystrophy or another rare genetic disease, GARD is a valuable resource for accessing information, support, and community connections. Visit the Genetic and Rare Diseases Information Center website to learn more.

Patient Support and Advocacy Resources

Patients and families affected by genetic diseases such as Vitelliform Macular Dystrophy (VMD) may benefit from various support and advocacy resources. These resources provide valuable information and support to individuals and families dealing with the challenges associated with this condition.

One well-known resource for individuals affected by VMD is the Tillack Genetic Disease Information Center. This center provides comprehensive information about VMD and other genetic diseases. It offers educational materials, resources, and support for patients, families, and healthcare professionals.

In addition to the Tillack Genetic Disease Information Center, there are other resources available to assist individuals and families affected by VMD. These resources include patient support organizations, online forums, and advocacy groups. These organizations provide a platform for individuals to connect with others facing similar challenges and share experiences and information.

Another important resource for individuals affected by VMD is genetic testing. Genetic testing can provide valuable information about the specific genes associated with VMD and its inheritance patterns. The VMD2 gene is one of the genes known to be associated with this condition. Genetic testing can help individuals and their families better understand the causes of their condition and make informed decisions about their healthcare.

There are also scientific studies and clinical trials focused on understanding VMD and developing effective treatments. The ClinicalTrials.gov database provides information on ongoing clinical trials related to VMD. This database can help individuals find opportunities to participate in research and contribute to the advancement of knowledge about this condition.

For additional information about VMD and related research, individuals can explore scientific articles available on PubMed. PubMed is a database of biomedical literature that provides access to a wealth of information on various diseases and conditions. It can help individuals stay updated on the latest research findings and potential treatment options.

Individuals affected by VMD can also benefit from connecting with patient advocacy organizations. These organizations work to raise awareness about VMD, advocate for research funding, and promote access to resources and support for affected individuals. They may provide information about clinical trials, patient support groups, and other resources that can enhance the quality of life for individuals with VMD.

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In conclusion, individuals and families affected by Vitelliform Macular Dystrophy can find support and advocacy resources to help them navigate the challenges associated with this condition. These resources provide information, support, and connections to other individuals facing similar challenges. By accessing these resources, individuals can gain a better understanding of their condition and find comfort and support from others.

Research Studies from ClinicalTrialsgov

Scientific research studies conducted by ClinicalTrialsgov provide valuable information about Vitelliform macular dystrophy (VMD). VMD is a genetic condition that affects the macula, an area in the center of the retina responsible for sharp vision. It is also called Best disease, named after Friedrich Best, who first described the condition.

Research studies aim to understand the causes of VMD and develop new treatments to improve patient outcomes. They are also important for advocacy and support groups in providing accurate information about the condition.

One study listed on ClinicalTrialsgov is investigating the inheritance patterns and frequency of VMD. This study aims to learn more about the genetic factors associated with different forms of the condition.

Another study listed on ClinicalTrialsgov focuses on testing a gene called VMD2 in patients with the disease. This gene is known to be associated with VMD and could provide additional insights into the causes and progression of the condition.

Scientific articles published in PubMed, a database of biomedical literature, also provide valuable information about VMD. These articles often provide references to other studies and resources that can further support research and patient care.

In summary, research studies from ClinicalTrialsgov and publications in PubMed are essential resources for learning more about Vitelliform macular dystrophy. They contribute to our understanding of the condition, its genetic causes, and potential treatment options.

Catalog of Genes and Diseases from OMIM

Vitelliform macular dystrophy (VMD) is a rare genetic condition that affects the macula, a part of the retina responsible for central vision. It is also called Best vitelliform macular dystrophy, after the BEST1 gene that is often associated with the condition.

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic diseases and the genes associated with them. It provides information on the clinical features, inheritance patterns, genetic testing, and more for a wide range of diseases, including VMD.

OMIM contains detailed information on the genetic basis of VMD and other forms of macular dystrophy. It lists the genes that have been found to affect the macula and cause the disease. One of the most well-known genes associated with VMD is the BEST1 gene. Mutations in this gene can result in the development of vitelliform macular dystrophy type 2 (VMD2), the most common form of the condition.

The catalog also provides information on the clinical features of VMD and other associated macular dystrophies. It describes the vision loss, macular changes, and other symptoms that patients may experience. OMIM also includes references to scientific articles and research studies that provide further insights into the disease.

OMIM is a valuable resource for patients, families, and healthcare professionals seeking information about VMD and other genetic diseases. It provides a comprehensive and up-to-date overview of the condition, including information on genetic testing, inheritance patterns, and available treatment options.

In addition to OMIM, there are other resources available for individuals affected by VMD. Support and advocacy organizations, such as the Macular Society and the Foundation Fighting Blindness, provide additional information and support for patients and their families.

ClinicalTrials.gov is another valuable resource for individuals interested in participating in clinical trials for VMD and other macular diseases. It is a database of clinical trials conducted around the world, providing information on ongoing and upcoming studies.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for individuals interested in learning more about VMD and other macular dystrophies. It provides detailed information on the genes that cause the condition, the clinical features associated with it, and the available resources and research studies. OMIM, along with other resources like support organizations and clinical trials databases, can help patients and their families better understand and manage VMD.

Scientific Articles on PubMed

There are several scientific articles available on PubMed related to Vitelliform Macular Dystrophy (VMD). PubMed is a valuable resource for researchers and clinicians looking to learn more about this rare genetic condition affecting the macula, which causes vision loss. The macula is the central part of the retina responsible for sharp, detailed vision.

Some of the articles found on PubMed focus on the genetic causes and inheritance patterns of VMD. Researchers have identified several genes, including VMD2 and BEST1, that are associated with different forms of the disease. These studies provide essential information about the frequency and genetic basis of VMD, as well as its relationship to other macular diseases.

ClinicalTrials.gov is another useful resource for learning about ongoing and completed clinical trials for VMD. These trials aim to test the effectiveness of potential treatments and management strategies for the condition. Each trial is carefully designed to explore and evaluate different aspects of the disease, providing additional insights into its causes and potential therapies.

In addition to scientific articles and clinical trials, there are various resources available for patients and their families seeking support, advocacy, and more information about VMD. The National Organization for Rare Disorders (NORD) has a comprehensive catalog of rare diseases, including VMD, along with helpful resources for patients and their families.

The Schilling Center for Pediatric Developmental Ophthalmology focuses on research and clinical care for patients with macular dystrophies, including VMD. They are dedicated to understanding the causes and mechanisms of this condition and developing novel therapies. Their website provides extensive information and resources for patients and families.

OMIM (Online Mendelian Inheritance in Man) is another valuable resource for genetic information about VMD and other inherited diseases. OMIM provides detailed records on known genes, genetic disorders, and their associated clinical features. This database is regularly updated with the latest research findings, ensuring that clinicians and researchers stay up-to-date with new discoveries.

By exploring the scientific articles, clinical trials, and resources available on PubMed and other platforms, researchers, clinicians, and patients can learn more about VMD and contribute to ongoing efforts to understand and treat this condition.

References

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