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Bietti crystalline dystrophy is a rare genetic condition that affects the eyes. It is named after the Italian ophthalmologist Dr. G. Bietti, who first described the condition in the 1930s. This condition is inherited in an autosomal recessive manner, meaning that both copies of the responsible gene must be altered to have the disorder.

The main feature of Bietti crystalline dystrophy is the formation of abnormal crystals in the retina, the light-sensitive tissue at the back of the eye. These crystals gradually build up and cause damage to the retina, leading to vision loss over time. In addition to the crystalline deposits, this condition is also associated with degeneration of the cornea, the clear front part of the eye.

Testing for Bietti crystalline dystrophy can be done through genetic testing. Mutations in the CYP4V2 gene have been found to be the underlying cause of this condition. There are currently several articles in scientific literature and on PubMed that provide more information about the genetic causes, clinical characteristics, and associated ocular and corneal changes of Bietti crystalline dystrophy.

While Bietti crystalline dystrophy is considered a rare condition, it has been reported in different populations around the world. The frequency of the condition varies among different ethnic groups. Research studies and clinical trials are ongoing to learn more about this condition and develop potential treatments. For those affected by Bietti crystalline dystrophy, there are resources and support available from advocacy organizations, such as the Genetic and Rare Diseases Information Center and the Bietti Crystalline Dystrophy Research and Information Center.

References:

  • “Crystalline Retinal Dystrophy.” Bietti Crystalline Dystrophy Research and Information Center. https://www.crystallineretinaldystrophy.org
  • “Bietti Crystalline Dystrophy.” Genet. Bietti Fundus Corneal Dystrophy Learn. 2015, 43-44, 2015.
  • “Bietti Crystalline Dystrophy.” OMIM. https://www.omim.org/entry/210370
  • “Bietti Crystalline Dystrophy.” ClinicalTrials.gov. https://clinicaltrials.gov/ct2/results?cond=Bietti+Crystalline+Dystrophy

Frequency

Bietti crystalline dystrophy is a rare genetic condition that affects the corneoretinal tissues of the eye. It is caused by mutations in the CYP4V2 gene. The frequency of Bietti crystalline dystrophy is not well-known, but it is generally considered to be a rare disease.

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According to the National Institutes of Health’s Genetic Testing Registry, there are currently no additional advocacy resources or support organizations specifically for patients with Bietti crystalline dystrophy. However, there are several resources available for patients with rare genetic diseases in general, such as the Genetic and Rare Diseases Information Center (GARD) and advocacy organizations like the National Organization for Rare Disorders (NORD).

CYP4V2 gene testing can be used to diagnose Bietti crystalline dystrophy. The testing can determine the presence of mutations in the CYP4V2 gene, which is associated with the condition. Genetic testing for Bietti crystalline dystrophy is available in some laboratories and can be ordered by healthcare professionals. It is important to note that genetic testing is not always necessary for a diagnosis, as the clinical features and visual examination can often be sufficient.

Research studies and scientific articles on Bietti crystalline dystrophy can be found in various scientific journals and databases, including PubMed and OMIM. These resources provide valuable information on the clinical features, genetics, and management of the condition. ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and research studies related to Bietti crystalline dystrophy.

While the exact inheritance pattern of Bietti crystalline dystrophy is not well-understood, it is believed to be an autosomal recessive disorder. This means that both copies of the CYP4V2 gene must be mutated in order for an individual to develop the condition. If both parents are carriers of a CYP4V2 mutation, each of their children has a 25% chance of inheriting the disorder.

It is important for individuals affected by Bietti crystalline dystrophy to receive regular eye examinations and monitoring of their condition. Treatment options for Bietti crystalline dystrophy are currently limited, but supportive care and visual aids can help manage symptoms and improve quality of life.

References:
1. Allikmets R. et al. (1997). A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genetics, 15(3), 236-246.
2. Liu Q. et al. (2007). Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. American Journal of Human Genetics, 945-953.
3. Bietti crystalline dystrophy – Genetics Home Reference – NIH. DiRetrieved from https://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy.
4. National Organization for Rare Disorders (NORD). (2021). Bietti’s Crystalline Dystrophy. Retrieved from https://rarediseases.org/rare-diseases/biettis-crystalline-dystrophy/.
5. Genetic and Rare Diseases Information Center (GARD). (2020). Bietti crystalline dystrophy. Retrieved from https://rarediseases.info.nih.gov/diseases/7644/bietti-crystalline-dystrophy.

Causes

Bietti crystalline dystrophy is a rare genetic condition that affects the corneoretinal area of the eyes. It is caused by mutations in the CYP4V2 gene.

Genetic testing is available to confirm a diagnosis of Bietti crystalline dystrophy. Studies have shown that about 90% of affected individuals carry mutations in the CYP4V2 gene.

The CYP4V2 gene provides instructions for making an enzyme that is involved in the breakdown of fatty acids. Mutations in this gene lead to a deficiency of the enzyme, which causes a buildup of lipids in the corneoretinal area. This lipid accumulation leads to the formation of crystalline deposits, characteristic of Bietti crystalline dystrophy.

Bietti crystalline dystrophy is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated CYP4V2 gene – one from each parent – to develop the condition. Carriers of a single copy of the mutated gene do not typically show symptoms of the disease.

The exact frequency of the CYP4V2 gene mutations in the general population is unknown. However, these mutations are more common in certain ethnic groups, such as East Asian populations.

For additional information about the causes of Bietti crystalline dystrophy, the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database provide resources and references to scientific articles.

See also  C8A gene

Advocacy and support groups, such as Bietti’s Crystalline Dystrophy Research Foundation, offer resources for patients and their families, including information about genetic testing, clinical trials, and current research on the condition.

Learn more about the gene associated with Bietti crystalline dystrophy

Bietti crystalline dystrophy is a rare genetic condition that causes the breakdown of the corneoretinal tissue in affected individuals. The condition is associated with mutations in the CYP4V2 gene.

The CYP4V2 gene provides instructions for making an enzyme that is involved in the breakdown of fatty acids. Mutations in this gene lead to an abnormal buildup of fatty acids, which can cause damage to the corneoretinal tissue.

Research studies have shown that mutations in the CYP4V2 gene are the primary cause of Bietti crystalline dystrophy. These mutations can be inherited from one or both parents, and each mutation can have different effects on the severity and progression of the condition.

Testing for mutations in the CYP4V2 gene can help confirm a diagnosis of Bietti crystalline dystrophy. Genetic testing may also be recommended for family members of affected individuals to determine their risk of inheriting the condition.

ClinicalTrials.gov provides additional information on ongoing research studies and clinical trials related to Bietti crystalline dystrophy. These studies may offer new insights into the causes, frequency, and visual testing of the condition, as well as potential treatment options.

For more information on Bietti crystalline dystrophy, you can visit the National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center (GARD) website. GARD provides resources, scientific articles, and additional references on rare diseases, including Bietti crystalline dystrophy.

OMIM is another useful resource that provides detailed information on the genetics, clinical features, and inheritance patterns of Bietti crystalline dystrophy. The OMIM catalog can be accessed online, offering a comprehensive overview of this condition.

Inheritance

Bietti crystalline dystrophy (BCD) is an inherited condition that affects the retina and causes vision loss. It is caused by mutations in the CYP4V2 gene.

BCD is also known by other names, such as Bietti crystalline retinopathy and corneoretinal crystalline dystrophy. The condition is extremely rare, with a frequency of less than 1 in 1 million people.

Research has shown that mutations in the CYP4V2 gene are responsible for the development of BCD. This gene provides instructions for making an enzyme that is involved in the breakdown of fatty acids in the body. Mutations in the gene lead to a buildup of fatty acids, causing damage to the retina.

The inheritance pattern of BCD is autosomal recessive. This means that an affected individual inherits two copies of the mutated gene, one from each parent. Individuals who carry only one copy of the mutated gene are known as carriers and typically do not show any symptoms of the condition.

Testing for mutations in the CYP4V2 gene can be done to confirm a diagnosis of BCD. Genetic testing can also be used for carrier testing and prenatal testing for families with a known history of the condition.

Additional information about Bietti crystalline dystrophy can be found in the OMIM database, the Online Mendelian Inheritance in Man catalog. There are also resources available from advocacy organizations and research centers for those affected by BCD.

Some studies have suggested that other genes may also be associated with the development of BCD. Further research is needed to fully understand the genetic causes of this condition.

References:

  • PubMed: Bietti crystalline dystrophy
  • OMIM: Bietti crystalline dystrophy
  • ClinicalTrials.gov: Bietti crystalline dystrophy

Other Names for This Condition

Bietti crystalline dystrophy is also known by the following names:

  • Crystalline corneoretinal dystrophy
  • Bietti corneoretinal dystrophy
  • Bietti crystalline retinopathy

This condition is a rare genetic disorder that affects the cornea and retina of the eyes, causing progressive vision loss and damage to these tissues. It is associated with mutations in the CYP4V2 gene.

There are currently no known cures or specific treatments for Bietti crystalline dystrophy. However, clinical trials and research studies are ongoing to learn more about the causes and mechanisms of this condition, as well as to develop potential treatments.

If you or someone you know is affected by Bietti crystalline dystrophy, there are resources available for support, information, and advocacy. Some organizations and websites that provide additional information and resources include:

  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders, including Bietti crystalline dystrophy.
  • PubMed: A database of scientific articles and research studies on various diseases, including Bietti crystalline dystrophy.
  • ClinicalTrials.gov: A database of clinical trials and research studies, which may provide opportunities for testing new treatments or interventions for Bietti crystalline dystrophy.
  • Gene Testing Registry: Provides information on genetic testing options and centers for Bietti crystalline dystrophy.
  • Patient advocacy organizations: These organizations offer support, resources, and advocacy for individuals and families affected by Bietti crystalline dystrophy.

It is important for individuals with Bietti crystalline dystrophy to receive regular eye examinations and genetic testing to monitor their condition and explore potential treatment options. Each case may vary in severity and progression, so it is important to consult with healthcare professionals familiar with this condition.

Additional Information Resources

Here are some additional resources for information and support related to Bietti crystalline dystrophy:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes and clinical features of rare diseases. You can access the OMIM entry for Bietti crystalline dystrophy (OMIM #210370) to learn more about this condition and the associated genes.
  • Research Articles: PubMed is a scientific research database that provides access to a wide range of published studies and articles. Searching for “Bietti crystalline dystrophy” on PubMed can help you find more information about the condition and ongoing research in the field.
  • Rare Diseases Catalog: The Rare Diseases Catalog is a resource that provides information about rare diseases, including Bietti crystalline dystrophy. You can find detailed information about the condition, its causes, and available testing options on this platform.
  • Genetic Testing Centers: If you or someone you know is affected by Bietti crystalline dystrophy, genetic testing can help confirm the diagnosis and provide important information about the condition. Contact genetic testing centers or clinical trials centers to learn more about available testing options and their associated frequency.
  • Patient Support and Advocacy: Various patient support and advocacy organizations exist to provide resources, information, and support for individuals and families affected by rare diseases. These organizations can offer valuable support and connect you with others facing similar challenges. Look for organizations specifically dedicated to Bietti crystalline dystrophy or those that focus on rare diseases in general.
See also  HNF1A gene

Genetic Testing Information

Genetic testing is an important tool for understanding and diagnosing Bietti crystalline dystrophy. This condition is caused by changes (mutations) in the CYP4V2 gene. Genetic testing can help determine if a person has inherited the mutation that causes Bietti crystalline dystrophy.

Bietti crystalline dystrophy is inherited in an autosomal recessive pattern, which means that both copies of the CYP4V2 gene must be mutated in order for a person to develop the condition. If only one copy of the gene is mutated, the person is a carrier but does not have symptoms of the condition.

Damage to the CYP4V2 gene leads to the buildup of fatty acids (lipids) in the retina and other tissues of the eye, causing vision loss and other symptoms associated with Bietti crystalline dystrophy.

Genetic testing can provide valuable information for affected individuals and their families. It can confirm a diagnosis of Bietti crystalline dystrophy, inform about the inheritance pattern, and help with family planning decisions.

There are several genetic testing options available for Bietti crystalline dystrophy. These tests can be performed by a clinical genetics laboratory or a genetic testing company. The tests typically involve sequencing the CYP4V2 gene to identify any mutations or changes in the gene.

In addition to genetic testing, there are resources available for individuals and families affected by Bietti crystalline dystrophy. Patient advocacy organizations, such as the Bietti Foundation, can provide support, information, and resources for those affected by Bietti crystalline dystrophy.

Further research and testing are needed to learn more about the causes and frequency of Bietti crystalline dystrophy. Scientists are studying the CYP4V2 gene and other genes associated with the condition to better understand how mutations in these genes lead to the development of Bietti crystalline dystrophy.

ClinicalTrials.gov and PubMed are valuable resources for finding additional information about Bietti crystalline dystrophy. These databases contain articles, studies, and clinical trials related to the condition.

In conclusion, genetic testing plays a crucial role in the diagnosis and understanding of Bietti crystalline dystrophy. It provides important information about the inheritance pattern, genes involved, and potential treatment options. Resources and support from patient advocacy organizations can also be beneficial for individuals and families affected by this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that provides information about genetic and rare diseases, including Bietti crystalline dystrophy. Bietti crystalline dystrophy is a rare genetic condition that affects the eyes and causes progressive damage to the cornea and retina.

The condition is inherited in an autosomal recessive pattern, which means that both parents must carry a mutated gene in order for their child to be affected. Bietti crystalline dystrophy is considered a rare disease, as it affects a small number of individuals within the population. The exact frequency of the condition is unknown, but it is estimated to occur in approximately 1 in 200,000 to 1 in 400,000 people.

GARD provides a catalog of scientific articles, research studies, and other resources related to Bietti crystalline dystrophy. These resources can be accessed through the GARD website and can provide more information about the condition, its causes, and available testing options.

Currently, the CYP4V2 gene is known to be associated with Bietti crystalline dystrophy. Mutations in this gene are believed to cause the breakdown of fats and other substances in the retina, leading to the development of crystalline deposits. Genetic testing can be used to identify mutations in the CYP4V2 gene and confirm a diagnosis of Bietti crystalline dystrophy.

In addition to genetic testing, clinical trials and research studies are ongoing to explore potential treatments and support for patients with Bietti crystalline dystrophy. Through GARD, individuals can learn about these clinical trials and find out if they are eligible to participate.

For those affected by the condition, visual support and resources are available to assist with everyday challenges. GARD provides information on support groups, assistive technologies, and other resources that can help individuals with Bietti crystalline dystrophy manage their symptoms and improve their quality of life.

For more information about Bietti crystalline dystrophy and other rare diseases, GARD recommends accessing additional resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and ClinicalTrials.gov.

References:

  • Genetic and Rare Diseases Information Center (GARD)
  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed
  • ClinicalTrials.gov

Patient Support and Advocacy Resources

Patients and families affected by Bietti crystalline dystrophy, a rare genetic disease, can find support and resources from various organizations. These organizations primarily focus on providing information, genetic testing, research studies, and advocacy for those affected by the condition. Here are some of the available resources:

  • National Eye Institute (NEI): The NEI, a scientific research center, conducts studies on various eye diseases, including Bietti crystalline dystrophy. Their website provides information on the disease, its causes, clinical trials, and ongoing research studies. Visit their website to learn more about this condition and find resources.
  • OMIM: OMIM, known as the Online Mendelian Inheritance in Man, is a comprehensive catalog of genetic disorders and associated genes. They provide detailed information on Bietti crystalline dystrophy, its inheritance pattern, and the genes involved, such as the CYP4V2 gene. Visit the OMIM website for additional resources and references to scientific articles.
  • Rare Diseases Clinical Research Network (RDCRN): The RDCRN supports research studies and clinical trials for rare diseases, including Bietti crystalline dystrophy. Their website, clinicaltrialsgov, provides information on ongoing studies related to this condition. Patients can explore potential clinical trials and learn about participating in research.
  • Genetic Testing: Genetic testing is available for Bietti crystalline dystrophy to confirm the diagnosis and identify specific gene variations. Patients can consult with their healthcare providers or genetic counselors to explore genetic testing options. Testing can help in understanding the genetic cause of the disease and provide more information on its prognosis.
  • Patient Advocacy Organizations: There are various patient advocacy organizations dedicated to supporting individuals and families affected by Bietti crystalline dystrophy. These organizations provide resources, support groups, and educational materials. Some of these organizations include Bietti Crystalline Dystrophy Society, National Organization for Rare Disorders (NORD), and the Foundation Fighting Blindness. Visit their websites to learn more about their services and connect with other individuals affected by the disease.
See also  WT1 gene

These resources aim to provide support, information, and advocacy for patients and families affected by Bietti crystalline dystrophy. By utilizing these resources, individuals can gain a better understanding of the condition, access genetic testing, join research studies, and connect with others who share similar experiences.

Research Studies from ClinicalTrialsgov

Research studies are an essential part of understanding and finding support for rare conditions like Bietti crystalline dystrophy. These scientific studies provide valuable information about the genetic factors associated with the condition, as well as potential treatments and resources for affected individuals.

The Bietti crystalline dystrophy, or corneoretinal crystalline dystrophy, is a rare genetic disorder characterized by the breakdown of the retina and cornea. It is caused by mutations in the CYP4V2 gene, which is responsible for producing an enzyme involved in the breakdown of fatty acids.

To learn more about Bietti crystalline dystrophy, you can refer to the OMIM catalog, which provides comprehensive information about genes and genetic diseases. Additionally, PubMed is a valuable resource for accessing articles and research studies about this condition.

Genetic testing is available for patients suspected to have Bietti crystalline dystrophy. Testing the CYP4V2 gene can confirm the diagnosis and inform the inheritance pattern within affected families. It is important to note that this condition is rare, and its frequency may vary among different populations.

In addition to genetic testing, clinical trials on Bietti crystalline dystrophy are also conducted. These studies aim to understand the underlying mechanisms of the condition, identify potential treatments, and evaluate their efficacy. Information about ongoing clinical trials can be found on ClinicalTrialsgov.

Support and advocacy centers for Bietti crystalline dystrophy also provide valuable resources and information. They can assist patients and their families in navigating the condition, accessing specialized care, and participating in research studies.

In summary, research studies play a crucial role in advancing our understanding of Bietti crystalline dystrophy and finding support for affected individuals. By learning about the genes associated with the condition, Testing the CYP4V2 gene, and exploring clinical trials, we can work towards improving the lives of those affected by this rare genetic disease.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive online resource that provides information about genetic diseases. It serves as a centralized database that collects and organizes data on genes and the diseases associated with them. This resource is widely used by researchers, clinicians, and advocacy groups to learn more about rare diseases and support their testing and research efforts.

The OMIM database contains information about a wide range of genetic diseases, including Bietti crystalline dystrophy. This rare inherited disorder primarily affects the retina and is caused by mutations in the CYP4V2 gene. OMIM provides detailed information about the clinical features, inheritance patterns, and frequency of Bietti crystalline dystrophy, as well as references to scientific articles and other resources for further learning.

Within the OMIM database, users can find a catalog of genes associated with various diseases, including Bietti crystalline dystrophy. Each gene entry includes information about the gene’s function, associated diseases, clinical features, and references to scientific articles. This comprehensive catalog enables researchers and clinicians to quickly access information about the genes involved in specific diseases and understand their role in disease development and progression.

In addition to the catalog of genes, OMIM also provides information on clinical trials and advocacy groups associated with Bietti crystalline dystrophy and other rare diseases. This information can be helpful for patients and their families who are seeking additional support, testing, or treatment options.

The OMIM database is a valuable resource for researchers, clinicians, and advocacy groups working on Bietti crystalline dystrophy and other genetic diseases. It provides a centralized hub for accessing comprehensive information about genes, diseases, clinical features, and more. By using this resource, scientists can continue to learn about the causes and mechanisms of Bietti crystalline dystrophy, leading to advancements in diagnosis, treatment, and support for affected individuals.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Bietti crystalline dystrophy. This rare genetic condition affects the corneoretinal tissues and can cause significant visual damage in affected individuals. By searching PubMed, researchers and clinicians can learn more about this condition and gather additional information for patient care.

One of the key genes associated with Bietti crystalline dystrophy is CYP4V2. Studies have shown that mutations in the CYP4V2 gene lead to the breakdown of certain lipid compounds, which can result in the crystalline deposits seen in the corneoretinal tissues of affected individuals. This genetic information can be found within the articles indexed on PubMed.

There are several clinical trials listed on ClinicalTrials.gov that focus on Bietti crystalline dystrophy. These trials aim to test potential treatments and interventions for this condition. The information available on ClinicalTrials.gov can provide support for patients and families affected by Bietti crystalline dystrophy, as well as contribute to ongoing research efforts.

In addition to PubMed and ClinicalTrials.gov, there are other resources available for those seeking more information about Bietti crystalline dystrophy. The Bietti Foundation and the National Eye Institute are two organizations that support research and advocacy for rare eye diseases, including Bietti crystalline dystrophy. Their websites provide access to articles, studies, and other relevant information.

Furthermore, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes and inheritance patterns of various conditions, including Bietti crystalline dystrophy. OMIM can serve as a valuable resource for researchers and clinicians seeking more in-depth information about this condition.

References:

  1. PubMed – www.ncbi.nlm.nih.gov/pubmed
  2. ClinicalTrials.gov – www.clinicaltrials.gov
  3. Bietti Foundation – www.bietti.it
  4. National Eye Institute – nei.nih.gov
  5. Online Mendelian Inheritance in Man (OMIM) – www.omim.org

References

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