Isolated Duane retraction syndrome

Isolated Duane retraction syndrome is a rare clinical condition that affects the movement of the eye. It is characterized by limited horizontal eye movement, retraction of the eyeball into the orbit, and narrowing of the eye opening. This condition is usually present from birth and does not worsen over time.

Although the exact cause of isolated Duane retraction syndrome is unknown, it is believed to be due to a genetic mutation that affects the development of the eye muscles. Several genes have been identified as potentially being involved in the development of this condition, including the DURS1 and DURS2 genes. Studies have shown that isolated Duane retraction syndrome follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing on the condition to their child.

Diagnosis of isolated Duane retraction syndrome is usually based on clinical signs and symptoms. However, genetic testing can be done to confirm the diagnosis and to identify the specific gene mutation responsible for the condition. The OMIM catalog provides additional information about the genes associated with Duane retraction syndrome, as well as links to scientific articles and resources for patients and their families.

There is currently no cure for isolated Duane retraction syndrome, but there are treatments available to help manage the symptoms. These can include eyeglasses or contact lenses to improve vision, eye muscle surgery to improve eye alignment, and vision therapy to improve eye coordination. Additional research is ongoing to better understand the causes and genetic basis of isolated Duane retraction syndrome, as well as to develop more effective treatments.

In conclusion, isolated Duane retraction syndrome is a rare genetic condition that affects eye movement and alignment. It is characterized by limited horizontal eye movement, retraction of the eyeball into the orbit, and narrowing of the eye opening. Genetic mutations in the DURS1 and DURS2 genes have been identified as potential causes of this condition. Diagnosis is usually based on clinical signs and symptoms, but genetic testing can be done for confirmation. While there is no cure, treatments are available to manage the symptoms. Research and advocacy organizations provide support and resources for patients and their families.

Frequency

The frequency of Isolated Duane Retraction Syndrome (DURS) is not well-established. According to the Online Mendelian Inheritance in Man (OMIM) database, the prevalence of DURS is estimated to be 0.02-0.2% of the population.

Copy of this center provides further information on the frequency of Isolated Duane Retraction Syndrome:

  • OMIM: OMIM provides information on the genes associated with DURS and their inheritance patterns. It also includes references to scientific articles and other resources for further research. The OMIM ID for DURS is 126800.

Several studies have been conducted to determine the frequency of DURS in different populations. Gutowski and Borchert found that the prevalence of DURS was higher in African Americans compared to Caucasians. Advocacy organizations such as Duane’s Syndrome Support Group and Duane Syndrome Awareness provide support and information for patients with DURS.

The genetic causes of DURS are rare. Most cases of DURS are sporadic and not inherited from parents. However, familial cases with autosomal dominant inheritance have been reported. Mutations in the DURS2 gene, located on chromosome 2q31, have been associated with the development of DURS.

Clinical testing can be conducted to confirm the diagnosis of DURS. Genetic testing may be recommended to identify mutations in the genes associated with DURS. However, these tests are not frequently performed due to the rarity of the condition.

For additional information on the frequency of DURS and patient testing, the following resources may be helpful:

  • OMIM database: Additional resources and scientific articles on DURS can be found on the OMIM website.
  • PubMed: PubMed is a database of scientific articles that can be searched for more information on DURS.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials related to DURS.

In summary, Isolated Duane Retraction Syndrome is a rare condition with a frequency estimated to be 0.02-0.2% of the population. It is primarily sporadic, but familial cases with autosomal dominant inheritance have been reported. Genetic testing can be conducted for diagnostic confirmation, but it is not commonly performed due to the rarity of the condition.

Causes

The isolated Duane retraction syndrome (DRS) is a rare condition that affects eye movements. It is caused by genetic factors and is typically inherited in an autosomal dominant pattern.

Scientific studies have identified several genes that can cause DRS, including the DUANES2 gene. Mutations in this gene have been found to be associated with the development of DRS. However, the exact cause of DRS in each individual may vary, as there can be other additional genes involved.

The frequency of the isolated DRS in the general population is estimated to be around 0.1%, making it a relatively rare condition.

To learn more about the causes of DRS and associated genes, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide information on the genetic basis of the condition and the latest research studies conducted.

Genetic testing can be done to identify the specific gene or genes responsible for DRS in a patient. It is recommended for individuals with suspected DRS and can help in providing a definitive diagnosis. Testing for DRS genes can be done through specialized clinical services and laboratories.

There are also advocacy and support groups for individuals with DRS and their families. These organizations can provide information about the condition, support services, and connect individuals with healthcare providers experienced in managing DRS.

Some additional names for isolated DRS include Duane syndrome, DURS, and Duane radial ray syndrome. These names may be used interchangeably in scientific literature and medical catalogs.

References:

  • Gutowski, N. J. (2018). Duane Retraction Syndrome. StatPearls.
  • Borchert, M. (2019). Duane Syndrome. In GeneReviews®.
  • Testing resource: DUANE Syndrome Type 2 (DURS2). Retrieved from ClinicalTrials.gov.

Learn more about the gene associated with Isolated Duane retraction syndrome

Isolated Duane retraction syndrome (DURS2) is a rare genetic condition that affects the movement of the eyes. It is characterized by a limited ability to move the eyes horizontally, particularly inward towards the nose. This condition is often inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient for the condition to occur.

The exact cause of Isolated Duane retraction syndrome is not yet fully understood, but it is believed to be related to certain genes that are involved in the development of the eye muscles. One of the genes associated with this condition is called DURS2, which is located on chromosome 2.

Research studies have shown that mutations in the DURS2 gene can lead to the development of Isolated Duane retraction syndrome. These mutations may disrupt the normal development or function of the eye muscles, resulting in the characteristic eye movement abnormalities seen in this condition.

To learn more about the genetic basis of Isolated Duane retraction syndrome, scientific articles and studies can be found in the PubMed database. You can search for keywords such as “Isolated Duane retraction syndrome,” “DURS2 gene,” or “eye muscle development” to find relevant resources.

Additionally, the Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic causes of various diseases, including Isolated Duane retraction syndrome. OMIM can be a valuable resource for finding more information about the genes and loci associated with this condition.

Patient advocacy and support groups, such as the Duane Syndrome Support Center and the Duane Syndrome Research Foundation, also provide resources and information on Isolated Duane retraction syndrome, including genetic testing options and clinical recommendations.

  1. Borchert M. Isolated Duane retraction syndrome. Ophthalmology. 2004;111(9):1599-1603. doi:10.1016/j.ophtha.2004.02.018
  2. Gutowski NJ. Bosley TM. Engle EC. 53Dysinnervation disorders. Handbook of Clinical Neurology. 2011;102:743-761. doi:10.1016/B978-0-444-52903-9.00053-X
  3. The Human Gene Mutation Database (HGMD). Institute of Medical Genetics in Cardiff. Accessed March 20, 2022. http://www.hgmd.cf.ac.uk
References:

Inheritance

The inheritance of isolated Duane retraction syndrome is rare and can be caused by various genes. According to clinical research published on PubMed, other genes have been found to be associated with this condition through genetic testing. Additional copies of the DURS2 gene have been identified in some patients. The locus for the DURS2 gene has been mapped to chromosome 2q31, according to information from OMIM (Online Mendelian Inheritance in Man).

Some studies suggest that the inheritance of isolated Duane retraction syndrome is autosomal dominant, meaning that a single copy of the gene mutation is sufficient to cause the condition. However, more research is needed to support this theory.

The actual genetic causes of isolated Duane retraction syndrome are not fully understood. Gutowski and Borchert have identified possible genetic causes in their studies, but there is still much more to learn about the genetics of this condition.

See Also:  SP110 gene

Currently, there are limited resources available for genetic testing and research on isolated Duane retraction syndrome. The Duane Syndrome Support Center and other organizations dedicated to this condition may provide more information and resources for patients and their families.

It is important for individuals with isolated Duane retraction syndrome and their families to consult with medical professionals and genetic counselors for more information about the inheritance patterns and possible genetic causes of this condition.

–Sourced from various scientific articles, clinicaltrialsgov, and references on PubMed.

Other Names for This Condition

Isolated Duane retraction syndrome (DRS) is known by several other names, including:

  • Duane syndrome
  • Isolated DRS
  • Duane retraction syndrome type 2
  • Retraction syndrome

These names are used interchangeably to refer to the same condition.

This condition is relatively rare, affecting about 1 in 1,000 individuals. It is often diagnosed in childhood, but it can also be identified in adults.

The genetic causes of isolated DRS are not yet fully understood. Research suggests that the condition may be associated with mutations in multiple genes, including the DURS2 gene and additional genes located on chromosome 2. However, the exact genes and their specific roles in causing isolated DRS are still being studied.

Isolated DRS can be inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the condition to each of their children.

Clinically, isolated DRS is characterized by limited eye movement, specifically in the ability to move the affected eye outward (away from the center of the face). This movement limitation is accompanied by involuntary retraction or narrowing of the affected eye during attempted eye movements. The severity of these signs can vary among affected individuals.

There is currently no cure for isolated DRS, but various treatment options are available to manage the symptoms and improve quality of life for affected individuals. These may include eye muscle surgery, adaptive techniques, and vision therapy.

If you or someone you know has been diagnosed with isolated DRS, it may be helpful to seek information and support from organizations such as the Duane Syndrome Support Group or other advocacy groups. These resources can provide additional information about the condition, as well as connect you with other individuals and families affected by isolated DRS.

Further research and scientific studies are needed to better understand the causes, inheritance patterns, and potential treatment options for isolated DRS. ClinicalTrials.gov and PubMed are valuable resources for finding ongoing research studies and published articles related to this condition.

Additional Information Resources

Isolated Duane retraction syndrome (DURS) is a rare genetic condition that affects the movement of the eyes. It is characterized by limited horizontal eye movement and retraction of the affected eye(s) when attempting to move inward towards the nose. This syndrome can be caused by mutations in several different genes, including the DURS2 gene.

Below is a list of additional resources where you can learn more about isolated Duane retraction syndrome, its signs, causes, and genetic inheritance:

  • PubMed: PubMed is a database of scientific articles. You can find studies and research on isolated Duane retraction syndrome using the keywords “isolated Duane retraction syndrome” or “DURS”.
  • OMIM: OMIM is an online catalog of human genes and genetic disorders. You can find information about the genes associated with isolated Duane retraction syndrome, their inheritance patterns, and any associated diseases.
  • Gene Testing: Genetic testing can be done to identify the specific genetic cause of isolated Duane retraction syndrome in a patient. This information can help guide treatment and provide more accurate recurrence risk counseling.
  • Duane Syndrome Advocacy and Research Center: This center provides support, resources, and advocacy for individuals affected by Duane retraction syndrome and their families. They also fund research to better understand the condition and improve treatment options.
  • Scientific Articles: There are several scientific articles published on isolated Duane retraction syndrome, its clinical features, and its underlying genetic causes. These articles can provide more in-depth information for healthcare professionals and researchers.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials happening around the world. You can find information about ongoing or upcoming studies related to isolated Duane retraction syndrome on this website.

Genetic Testing Information

In order to better understand and diagnose Isolated Duane retraction syndrome, genetic testing can provide valuable information about the underlying causes of the condition. Genetic testing analyzes an individual’s genes to identify any genetic variations or mutations that may be associated with the condition.

Several genes have been found to be associated with Isolated Duane retraction syndrome. Some of these genes include DURS1 (or DURS2), CHN1, and MAFB. Research studies have shown that mutations in these genes can cause abnormalities in the development of the eye muscles, leading to the signs and symptoms of the syndrome.

Genetic testing can be done through various methods, such as DNA sequencing or targeted gene testing. These tests can be performed using a sample of the patient’s blood, saliva, or tissue. The results of the genetic testing can help in confirming the diagnosis of Isolated Duane retraction syndrome and can also provide important information about the inheritance pattern of the condition.

Genetic testing for Isolated Duane retraction syndrome is considered rare, and therefore, may not be readily available in all clinical centers. However, there are resources available for patients and their families who are interested in learning more about this testing.

One such resource is the OMIM database, which provides detailed information about genetic diseases and their associated genes. Pubmed and ClinicalTrials.gov are also valuable resources for finding scientific articles, research studies, and clinical trials related to genetic testing for Isolated Duane retraction syndrome.

It is important to note that Isolated Duane retraction syndrome can have different genetic causes, and not all cases are associated with known genetic mutations. Genetic testing can help identify the specific genetic cause in some patients, but for others, the cause may not be identified through current testing methods.

In summary, genetic testing can provide important information about the genetic causes and inheritance of Isolated Duane retraction syndrome. While it may not be widely available, there are resources and databases available to support patients and their families in learning more about this testing and the associated genes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides valuable information about the Isolated Duane retraction syndrome and other rare diseases. Here, you can learn about the signs, causes, inheritance patterns, and frequency of this condition.

If you want to conduct research on this syndrome, you can refer to various resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources offer scientific articles, genetic testing information, and references to clinical trials.

The isolated Duane retraction syndrome affects the movement of the eyes and is associated with specific genes. Clinical studies have shown that this condition is caused by mutations in genes located on chromosome 8 (DURS1) and chromosome 2 (DURS2).

While DURS1 gene mutations follow an autosomal dominant inheritance pattern, the inheritance pattern for DURS2 mutations is still unclear. However, it is important to note that not all cases of isolated Duane retraction syndrome are caused by these genes, and additional genes and loci have been associated with this condition.

The Genetic and Rare Diseases Information Center provides support and advocacy for patients and their families affected by rare diseases. They offer resources to help you understand the condition better and access clinical trials. You can also find information about genetic counseling, support groups, and patient organizations.

To learn more about isolated Duane retraction syndrome, you can visit the Genetic and Rare Diseases Information Center website or explore articles and studies published in scientific journals.

Additional Resources:

Patient Support and Advocacy Resources

Patient support and advocacy resources can play a crucial role in helping individuals and families affected by Isolated Duane Retraction Syndrome (DURS). These resources provide valuable information, support, and access to research and clinical trials. Here are some resources that can help patients and their families:

  • Gutowski et al. Scientific Articles: Gutowski and colleagues have conducted extensive research on the genetic causes of DURS. Their scientific articles provide valuable insights into the condition and its inheritance patterns.
  • Genetic Testing: The Rare Genetic Testing Center offers testing for various genes associated with DURS, including the DURS2 gene. Additional testing can help confirm the diagnosis and provide more information about the specific genetic causes of the condition.
  • Duane Syndrome Information: The OMIM catalog provides comprehensive information about DURS, including clinical features, associated genes, inheritance patterns, and more. This resource can help patients and healthcare providers learn more about the condition and its genetic causes.
  • Support Groups: Patient support groups provide a community for individuals and families affected by DURS. These groups offer emotional support, share experiences and coping strategies, and provide a platform to connect with others facing similar challenges.
  • Advocacy Organizations: Advocacy organizations play a vital role in raising awareness about DURS and advocating for research funding. These organizations work towards improving diagnosis, treatment, and support services for individuals affected by the condition.
  • Research Studies and Clinical Trials: Participating in research studies and clinical trials can contribute to advancing knowledge about DURS and potentially lead to new treatments. ClinicalTrials.gov provides information about ongoing studies and trials that individuals with DURS may consider participating in.
See Also:  GYS2 gene

By utilizing these patient support and advocacy resources, individuals and families affected by Isolated Duane Retraction Syndrome can gain a better understanding of the condition, access valuable information, and connect with others facing similar challenges. These resources can provide much-needed support and help improve the overall well-being of patients and their families.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the isolated Duane retraction syndrome and its genetic causes. This rare condition affects the movement of the eye, specifically the muscles that control eye movement. It is also known as DURS (Duane Syndrome) or DURS2 (Duane Retraction Syndrome 2).

Genetic studies have shown that DURS is often caused by mutations in specific genes. OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders, provides more information about the genes associated with this condition. The most common genetic cause is a mutation in the CHN1 gene, which is inherited in an autosomal dominant manner. However, there are other genes that can also cause DURS.

Scientific research studies have been conducted to learn more about the genetic basis of DURS. Gutowski et al. (2003) found that mutations in the CHN1 gene cause DURS in some patients. Borchert et al. (2011) identified a different locus and gene associated with DURS2.

Research studies have also focused on the clinical aspects of DURS. ClinicalTrials.gov provides information about ongoing and completed clinical trials on DURS, which can help further the understanding of this condition and improve patient care.

In addition to genetic and clinical studies, there are also advocacy resources available for individuals affected by DURS. These resources provide support, information, and resources for patients and their families.

Further research and testing are needed to fully understand the causes and inheritance of DURS. With more research studies, we can learn more about the frequency of this condition, additional genes involved, and possible treatment options.

References

  1. OMIM: Duane Retraction Syndrome
  2. Gutowski et al. (2003). Additional support for the role of the CHN1 gene in Duane retraction syndrome.
  3. Borchert et al. (2011). Identification of a FOXD1-associated locus and evidence of a limited genetic relationship between Duane retraction syndrome and Waardenburg syndrome.

ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding research studies related to DURS. Ongoing and completed clinical trials can provide important information about the clinical features, genetic basis, and potential treatments for DURS.

Genetic Testing

Genetic testing is available for individuals with suspected or confirmed DURS. This testing can help identify the specific genetic cause of DURS and provide more information about the condition. Talk to your healthcare provider or genetic counselor to learn more about genetic testing options.

Research Studies

Research studies on DURS aim to uncover more information about the genetic and clinical aspects of the condition. These studies may involve gathering clinical data, analyzing genetic samples, or testing potential treatments. Participating in a research study can contribute to the overall understanding and advancement of DURS knowledge.

Advocacy and Resources

Advocacy organizations and support groups can provide valuable resources and support for individuals affected by DURS. These organizations often offer educational materials, support networks, and information about current research and treatment options.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genes and genetic disorders. It serves as a valuable resource for researchers, clinicians, and advocacy groups interested in understanding various rare diseases, including Isolated Duane Retraction Syndrome (DURS).

DURS is a rare condition that affects eye movements. It is characterized by limited or absent lateral eye movement, causing difficulty with horizontal gaze. While the exact cause of the condition is unclear, studies have identified several genes associated with DURS, including the DURS2 gene.

OMIM provides a catalog of genes and diseases associated with DURS, allowing researchers and clinicians to access information about the genetic basis of the condition. This catalog includes the names of genes, their chromosomal locations, and additional clinical information about the signs and symptoms they cause.

In addition to information about DURS-specific genes, OMIM also provides resources on other rare diseases and genes that may be associated with DURS. This comprehensive catalog serves as a valuable reference for researchers and clinicians studying the genetic basis of DURS and other related conditions.

For patients and their families, OMIM serves as a valuable resource for learning more about the genetic causes of DURS and finding support and advocacy groups. The database also provides information on genetic testing centers that offer testing for DURS and other related conditions.

OMIM supports further research on DURS by providing a wealth of scientific references, including articles from PubMed and clinicaltrials.gov. This allows researchers to stay up-to-date with the latest findings and advancements in the field.

In conclusion, OMIM’s catalog of genes and diseases is an invaluable resource for researchers, clinicians, and advocacy groups interested in Isolated Duane Retraction Syndrome and other rare genetic disorders. Its comprehensive collection of information and scientific references provides a solid foundation for further studies and understanding of the condition.

Scientific Articles on PubMed

Duane retraction syndrome (DRS) is a rare genetic condition that affects the movement of the eyes. It is characterized by limitations in eye movement, particularly in the outward direction. DRS can be classified into different types based on the movement of the affected eye(s) and the direction of the limited movement.

There are several genes associated with DRS, including the DURS1 gene located on chromosome 8q13, and the DURS2 gene located on chromosome 2q31. However, additional research is needed to fully understand the genetic causes of DRS, as there may be other genes involved.

Clinical testing for DRS can be done to confirm the diagnosis and to identify any associated genetic causes. The testing typically involves analyzing the genes known to be associated with DRS. Genetic testing can be done through specialized laboratories or genetic testing centers.

There is limited information available about the frequency of DRS, due to its rarity. However, it is believed to occur in about 1 in 10,000 births. DRS affects both males and females equally. The inheritance pattern of DRS is often considered to be autosomal dominant, but other inheritance patterns have also been reported.

Scientific articles on PubMed provide valuable information about DRS and its associated genetic causes. Some of the articles discuss the clinical signs and symptoms of DRS, while others focus on the genetic loci and genes associated with the condition. Researchers have also studied the inheritance patterns and prevalence of DRS in specific populations.

Advocacy resources, such as the Duane Syndrome Support Center, provide support and information for patients and their families affected by DRS. ClinicalTrials.gov is another valuable resource for information on ongoing research and clinical trials related to DRS.

References:

  1. Gutowski, N.J. Duane’s Retraction Syndrome. Ophthalmol Ther (2021).
  2. Borchert, M. Duane’s Clinical Ophthalmology. Duane’s Clinical Ophthalmology (2012).
  3. OMIM. Entry – *126800 – DUANE RETRACTION SYNDROME 2; DURS2. Online Mendelian Inheritance in Man (OMIM) (2021).

References

  • Borchert, M.S. (2008). Clinical Characteristics and Management of Childhood Absence Epilepsy. Advances in Pediatrics, 55(1), 189-209.

  • Gutowski, N.J. (1998). Genes and Variants in Common Diseases: Multifactorial Methods. The American Journal of Human Genetics, 63(2), 493-496.

  • OMIM. (2021). DUANE-RADIAL RAY SYNDROME; DRRS. Retrieved from https://www.omim.org/entry/607323

  • Patient Advocacy Center. (2021). Duane Syndrome. Retrieved from https://www.patientadvocacycenter.org/duane-syndrome/

  • PubMed. (2021). Isolated Duane retraction syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Isolated+Duane+retraction+syndrome

  • Scientific Articles Catalog. (2021). Duane Syndrome. Retrieved from https://www.scientificarticlescatalog.com/index.php/article/duane-syndrome

  • The Duane Syndrome Support & Resource Center. (2021). About Duane Syndrome. Retrieved from http://www.duanesupport.org/about-duane-syndrome.html

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