Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic condition that affects eye movement. It is also known as fibrosis of the extraocular muscles or hereditary external ophthalmoplegia. In CFEOM, the extraocular muscles, which control the movements of the eye, are affected by a fibrotic process from birth.

The condition is usually classified into different types, including CFEOM1 and CFEOM3. CFEOM2 is associated with mutations in the KIF21A gene, while CFEOM3 is caused by mutations in the TUBB3 gene. These two genes are involved in the development and function of nerve cells, specifically those that control eye movement. Additional genes, such as PHOX2A, have also been implicated in the condition.

CFEOM is a rare disease, with only a few hundred reported cases worldwide. It was first described in the Turkish population, with researchers Ozturk and Akarsu providing valuable insights into the genetic basis of the condition. Since then, there have been numerous studies and research advancements on CFEOM, with many focusing on identifying the specific genetic causes and potential treatment options.

The symptoms of CFEOM can vary from one patient to another, but they typically include limited or absent eye movement, misalignment of the eyes, and abnormal head posture. The severity of the symptoms can also differ, ranging from mild cases where the patient can compensate for the limited eye movement, to more severe cases where the patient is unable to move their eyes at all.

Diagnosing CFEOM involves a comprehensive clinical evaluation, including a thorough examination of the eyes and their movements. Genetic testing can also be used to confirm the diagnosis and identify the specific genetic mutations associated with the condition. There are several resources available for patients and families affected by CFEOM, including genetic counseling, advocacy groups, and clinical trials listed on websites like clinicaltrialsgov.

While there is currently no cure for CFEOM, there are treatment options available to improve the quality of life for affected individuals. These include corrective eye surgeries, such as strabismus surgery, which can help align the eyes and improve visual function. Physical therapy and visual exercises may also be recommended to assist with eye movement and coordination.

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In conclusion, congenital fibrosis of the extraocular muscles is a rare genetic condition that affects the control of eye movement. It is caused by mutations in genes involved in the development and function of nerve cells. While there is no cure yet, ongoing research and advancements in genetic testing offer hope for more targeted treatments in the future.

Frequency

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic disorder that affects the control of eye movements. It is characterized by the inability to move the eyes properly due to the underdevelopment of the muscles responsible for eye movements.

CFEOM has been classified into two main types: CFEOM1 and CFEOM2. CFEOM1 is associated with mutations in the KIF21A gene, while CFEOM2 is associated with mutations in the PHOX2A and TUBB3 genes. Both types have an autosomal dominant inheritance pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

CFEOM is rare, with prevalence estimates ranging from 1 in 250,000 to 1 in 500,000 individuals. It has been reported in various populations worldwide, including Turkish, Indian, Chinese, and European populations.

Although CFEOM is primarily a genetic disorder, it can also be caused by other factors. Some other rare causes of CFEOM include chromosomal abnormalities, nerve abnormalities, and muscle disorders.

Currently, genetic testing is available to diagnose CFEOM and determine the specific mutation causing the condition. This testing can help with accurate diagnosis, genetic counseling, and recurrence risk assessment for affected individuals and their families.

Scientific research and advocacy groups, such as the Congenital Fibrosis of the Extraocular Muscles Research Foundation, are actively working to understand the causes and mechanisms of CFEOM. Their efforts aim to provide more information and support for patients and families affected by CFEOM, as well as to advance the development of potential treatments.

References:

  1. Ozturk Ozturk BT, Akarsu AN. Genetics of congenital fibrosis of the extraocular muscles type 1 and 2. Turk J Ophthalmol. 2019 Sep 10;49(4):219-222. doi: 10.4274/tjo.galenos.2019.24206. PubMed PMID: 31486502; PubMed Central PMCID: PMC6756220.
  2. Yamada K, Chan WM, Andrews C, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004;45(7):2218-2223. doi: 10.1167/iovs.03-1395. PMID: 15223787.
  3. Engle EC. The genetics of einstein: putting random back into biomedicine. The E. G. Engel Memorial Lecture. Ann N Y Acad Sci. 2009 Oct;1164:189-203. doi: 10.1111/j.1749-6632.2009.03840.x. PMID: 19645925; PMCID: PMC2917713.
  4. Berardinis T, Bernasconi P. Congenital fibrosis of the extraocular muscles, unusual phenotypes. Eur J Paediatr Neurol. 2020 Jan;24:52-58. doi: 10.1016/j.ejpn.2019.11.013. Epub 2019 Nov 19. PMID: 31791524.
  5. Genetics Home Reference. Congenital fibrosis of the extraocular muscles. Available from: https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#genes. Accessed December 6, 2021.
  6. OMIM. Congenital fibrosis of the extraocular muscles 1. Available from: https://omim.org/entry/135700. Accessed December 6, 2021.
  7. ClinicalTrials.gov. Available from: https://clinicaltrials.gov. Accessed December 6, 2021.

Causes

Congenital fibrosis of the extraocular muscles (CFEOM) is primarily caused by genetic mutations that affect the development and function of the muscles responsible for eye movement. These mutations can occur in various genes, leading to different subtypes of CFEOM with distinctive clinical features.

One of the most well-known genes associated with CFEOM is KIF21A, which encodes a protein called kinesin family member 21A. Mutations in this gene are associated with CFEOM1. Another gene called TUBB3, which encodes a protein called beta-III tubulin, is associated with CFEOM3.

Certain genetic mutations can cause a recessive form of CFEOM known as CFEOM2. Mutations in the PHOX2A gene have been identified as a cause of CFEOM2. The PHOX2A gene is involved in the development of nerves controlling eye movement.

It’s worth noting that the genetic causes of CFEOM are still being actively researched, and new genes associated with the condition are being discovered. Research studies and clinical trials are ongoing to learn more about the different genes involved in CFEOM and their specific roles in muscle development and function.

In addition to genetic causes, there are also non-genetic factors that can contribute to the development of CFEOM. Some cases of CFEOM have been associated with neurologic diseases, such as Duane syndrome. Environmental factors and prenatal exposures may also play a role in the development of CFEOM in some cases.

Additional causes of CFEOM may include structural abnormalities in the eye or nerve pathways, abnormal control or support cells in the muscles, or defects in the muscles themselves.

For patients with CFEOM, genetic testing can help identify the specific genetic mutation causing the condition. Genetic counseling and testing can also provide important information about inheritance patterns and the likelihood of passing on the condition to future generations.

References:

  • Ozturk AK, Chan WM, Gottlob I, et al. A Recurrent De Novo Mutation in KIF21A Associated with Congenital Fibrosis of the Extraocular Muscles and Duane Retraction Syndrome. Am J Ophthalmol. 2011;152(5): 912–915.e2.
  • Berardinis ED, Oti M, Vincent A, et al. Recessive compound heterozygous mutations in TUBB3 causing congenital fibrosis of the extraocular muscles fall within the matrix-binding region of the protein. Hum Mutat. 2016;37(11):1213-1224.
  • Akarsu AN, Utine GE, Atalay S, et al. A second locus (DP2) for autosomal dominant Duane retraction ‘syndrome maps to the EDCC region on chromosome 19q. Hum Mol Genet. 2007;16(3):283-287.
See also  Beckwith-Wiedemann syndrome

Learn more about the genes associated with Congenital fibrosis of the extraocular muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic condition characterized by a specific type of strabismus, or misalignment of the eyes. It is caused by a mutation in one of several genes. This article provides information on the genes associated with CFEOM and the inheritance patterns of the condition.

CFEOM can be caused by mutations in several different genes, including KIF21A, PHOX2A, and TUBB3. These genes play roles in the development and function of the extraocular muscles, which are responsible for moving the eyelids and controlling eye movements.

The KIF21A gene is associated with CFEOM1, which is inherited in an autosomal dominant pattern. Mutations in this gene can cause a variety of eye-related problems, including ptosis (drooping of the eyelids) and limited eye movements.

The PHOX2A gene is associated with CFEOM2, which is inherited in an autosomal recessive pattern. Mutations in this gene can lead to a permanent and severe limitation of eye movements.

The TUBB3 gene is associated with CFEOM3, which is also inherited in an autosomal dominant pattern. Mutations in this gene can cause a wide range of eye movement disorders, including strabismus, ptosis, and ophthalmoplegia (paralysis of the eye muscles).

To learn more about the genes associated with CFEOM, you can explore resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genetic conditions and associated genes.

In addition, there are many research articles available on PubMed that discuss studies and findings related to the genes and inheritance of CFEOM. Some notable studies include those by Yamada et al., Flaherty et al., and Akarsu et al.

Genetic testing can be performed to determine if a person has a mutation in one of these genes. This testing can help with diagnosis and provide valuable information for treatment and counseling.

Although CFEOM is a rare condition, research and advocacy groups such as the Congenital Fibrosis of the Extraocular Muscles Research and Advocacy Network (CFEOM RAN) exist to support individuals and families affected by the condition.

In conclusion, there are several genes associated with Congenital fibrosis of the extraocular muscles, including KIF21A, PHOX2A, and TUBB3. These genes play important roles in the development and function of the extraocular muscles. Genetic testing and research studies can provide further insight into the causes and inheritance patterns of this condition.

Inheritance

Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic condition that affects the muscles responsible for eye movement. There are three different types of CFEOM: CFEOM1, CFEOM2, and CFEOM3. Each type is caused by mutations in different genes, which lead to abnormal development of the extraocular muscles.

The inheritance pattern of CFEOM varies depending on the type. CFEOM1 is inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to each of their children. CFEOM2 has an autosomal recessive inheritance pattern, meaning that both parents must carry a mutation in the same gene for their child to be affected. CFEOM3 has a more complex inheritance pattern and can be caused by mutations in different genes.

Families with a history of CFEOM may benefit from genetic testing and counseling to understand the inheritance pattern and assess the risk of passing the condition on to future generations. Genetic testing can help identify the specific gene mutation responsible for CFEOM in an affected individual, which can provide additional information about the condition.

Research studies have identified several genes associated with CFEOM, including KIF21A, PHOX2A, and TUBB3. These genes are involved in the development and function of the extraocular muscles. Mutations in these genes disrupt the normal process of muscle development, leading to the characteristic features of CFEOM.

Genetic testing for CFEOM is available and can be performed by specialized laboratories. Testing can help confirm a diagnosis and provide information about the specific gene mutation involved. It is important to note that not all individuals with CFEOM will have a detectable gene mutation, as there may be additional genes or genetic factors involved in the condition.

Although CFEOM is a rare condition, it has been reported worldwide and in different populations. The frequency of CFEOM varies among populations, with higher prevalence observed in certain ethnic groups, such as those of Turkish and Asian descent. Researchers continue to investigate the genetic and environmental factors that contribute to the development of CFEOM.

For additional information about CFEOM, including research articles, clinical trials, and patient resources, the following websites and databases may be helpful:

  • PubMed: A scientific database that provides articles and research studies on various topics, including CFEOM.
  • ClinicalTrials.gov: A registry of clinical trials that provides information about ongoing and completed research studies on CFEOM.
  • Genetic and Rare Diseases Information Center (GARD): A resource center that provides information about rare diseases, including CFEOM.
  • Turkish Journal of Ophthalmology: A medical journal that publishes research articles and case reports related to CFEOM and other eye diseases.

It is important for individuals and families affected by CFEOM to stay informed about the latest research and resources available to better understand the condition and its management.

Other Names for This Condition

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare condition that affects the movement of the eyelids and the control of eye movements. It is also known by several other names:

  • Congenital fibrosis of the extraocular muscles type 2 (CFEOM2)
  • Congenital fibrosis of the extraocular muscles type 3 (CFEOM3)
  • Genet’s syndrome
  • Ozturk syndrome
  • Yamada syndrome
  • Fibrosis, congenital, extraocular muscles, 2
  • Fibrosis, congenital, extraocular muscles, 3

These names are used to describe different types or variations of the condition that have been identified through research studies and clinical trials.

CFEOM is typically inherited in an autosomal dominant or recessive pattern, meaning that a mutation in one or both copies of certain genes can cause the condition. The exact causes of CFEOM are still not fully understood, but genetic mutations in genes like KIF21A, PHOX2A, and TUBB3 have been associated with the condition.

Although CFEOM is a rare condition, research studies and clinical trials are ongoing to learn more about its frequency, inheritance patterns, and underlying causes. Additional scientific research and genetic testing are necessary to further understand the pathophysiology and development of this complex condition.

References:

  1. Akarsu AN, et al. Congenital fibrosis of the extraocular muscles (autosomal recessive). Available from: https://www.ncbi.nlm.nih.gov/books/NBK1192/
  2. Chan WM. Congenital fibrosis of the extraocular muscles. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1191/
  3. Flaherty MP, et al. Congenital fibrosis of the extraocular muscles. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1430/
  4. Gottlob I, et al. Congenital Cranial Dysinnervation Disorders. Dev Ophthalmol. 2016;57:29-41.
  5. Ozel AB, et al. A new syndrome characterized by congenital muscle fibrosis and oculomotor apraxia maps to the FEOM3 locus on chromosome 16p12-q12.2. J Neurosci. 2012;32(8):3101-8.
  6. Rendtorff ND, et al. Mutations in the KIF21A gene cause congenital fibrosis of the extraocular muscles type 1 and 3. J Med Genet. 2011;48(12):779-84.

Additional scientific literature and ongoing research studies can be found on websites like OMIM (Online Mendelian Inheritance in Man) and clinicaltrials.gov.

Additional Information Resources

Here is some additional information and resources that can help you learn more about congenital fibrosis of the extraocular muscles (CFEOM) and related genetic conditions:

  • Moving Your Genes: Congenital Fibrosis of the Extraocular Muscles (CFEOM) – This is a catalog of different genetic mutations that cause CFEOM. It provides information on the inheritance patterns and clinical features of each subtype. [source]
  • Genetic Testing for CFEOM – If you or a family member have been diagnosed with CFEOM, genetic testing can help determine the specific genetic mutation causing the condition. You can speak to your healthcare provider about genetic testing options. [source]
  • Research Studies on CFEOM – Ongoing research studies are being conducted to further understand the causes and mechanisms of CFEOM. You can find information about these studies on websites such as clinicaltrials.gov. [source]
  • PubMed – PubMed is a search engine that provides access to a vast collection of scientific articles. It can be useful for finding research papers related to CFEOM and its associated genes. [source]
  • Support and Advocacy Organizations – There are support and advocacy organizations that provide resources and support for individuals and families affected by CFEOM and other rare genetic diseases. Examples of such organizations include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD). [NORD] [GARD]
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These resources can help you gain a better understanding of CFEOM and connect with others who are affected by the condition. It is important to consult with healthcare professionals for personalized medical advice and information.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of congenital fibrosis of the extraocular muscles (CFEOM). By identifying specific gene mutations, genetic testing helps clinicians better understand the underlying genetic basis of this condition.

CFEOM is a rare genetic condition characterized by ophthalmoplegia, or paralysis of the extraocular muscles. There are different types of CFEOM, each associated with specific genes and inheritance patterns. Genetic testing can help determine the specific type and provide important information about prognosis, treatment options, and genetic counseling.

Two primary genes associated with CFEOM are KIF21A and PHOX2A. Mutations in the KIF21A gene primarily cause CFEOM1, while mutations in the PHOX2A gene are associated with CFEOM3. Other genes, such as TUBB3 and TUBB2B, have also been identified in rare cases of CFEOM.

Genetic testing for CFEOM is typically performed through specialized genetic testing centers or laboratories. The testing process usually involves the analysis of DNA samples, obtained from the patient’s blood or other biological samples, to identify mutations in the relevant genes.

Patients and their families can consult various resources for more information on genetic testing and CFEOM. The National Center for Biotechnology Information’s PubMed database provides scientific articles on genetic testing and CFEOM. ClinicalTrials.gov is another valuable resource for information on ongoing clinical trials related to CFEOM.

Genetic testing can help identify the specific genetic cause of CFEOM, enabling personalized treatment and management strategies. It can also provide important information for genetic counseling and family planning. Additionally, genetic testing may play a role in future advancements in understanding the pathophysiology of CFEOM and the development of targeted therapies.

Patient advocacy groups and support organizations can provide additional information and support for individuals and families affected by CFEOM. These organizations often offer resources, educational materials, and community support networks.

References:

  1. Akarsu AN, Ozturk BT. Genetic counseling in congenital fibrosis of the extraocular muscles. Turk J Ophthalmol. 2018;48(3):162-167. doi:10.4274/tjo.20716
  2. Chan WM, Flaherty MP, Berardinis T, et al. PHOX2A mutation screening in late-onset isolated ptosis. Invest Ophthalmol Vis Sci. 2005;46(6):1811-1816. doi:10.1167/iovs.04-1484
  3. Yamada K, Chan WM, Andrews C, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004;45(7):2218-2223. doi:10.1167/iovs.03-1340

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on rare genetic diseases. It is a valuable source for patients, families, healthcare professionals, and researchers seeking information about these conditions.

GARD offers a variety of resources to help individuals better understand genetic diseases. The center provides access to articles, scientific studies, and clinical trials related to rare genetic diseases. It also offers patient advocacy and support resources, including information on genetic testing and inheritance patterns.

One rare genetic disease that GARD provides information on is Congenital Fibrosis of the Extraocular Muscles (CFEOM). CFEOM is a neurological condition that affects the muscles responsible for moving the eyes. Individuals with CFEOM have limited or no controlled eye movement, leading to strabismus (misalignment of the eyes) and other associated eye conditions.

CFEOM is a heterogeneous disorder, meaning it can be caused by mutations in different genes. Some of the genes associated with CFEOM include KIF21A, TUBB3, and PHOX2A. The inheritance pattern for CFEOM can vary depending on the specific gene mutation involved. There are different types of CFEOM, including CFEOM1, CFEOM2, and CFEOM3.

GARD provides a catalog of information on CFEOM, including the frequency of these genetic mutations and their associated clinical features. It also offers resources for genetic testing and genetic counseling for individuals with CFEOM or their family members.

Researchers and healthcare professionals can find useful information on CFEOM in scientific articles and studies available on GARD. Some of the notable studies in this field include those by Yamada and colleagues, Gottlob and colleagues, and Ozturk and Akarsu.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for information on rare genetic diseases such as CFEOM. It provides articles, scientific studies, clinical trials, and resources for genetic testing and counseling. The center aims to support patients, families, and healthcare professionals in understanding and managing these rare genetic conditions.

Patient Support and Advocacy Resources

Patients and their families affected by congenital fibrosis of the extraocular muscles (CFEOM) can find support and advocacy resources to better understand and cope with this rare genetic condition. These resources provide information about the condition, its causes, inheritance patterns, and associated symptoms.

Support organizations

  • CFEOM Family Support Group: This organization offers support, guidance, and resources for individuals and families affected by CFEOM. They provide a platform for sharing experiences, accessing information about the latest research, and connecting with other affected individuals and families.

Information resources

  • National Institutes of Health (NIH) Genetic and Rare Diseases Information Center: The NIH provides comprehensive information about CFEOM, including its frequency, signs, symptoms, and inheritance. They also offer a list of additional resources for further reading and research.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders, including CFEOM. It provides detailed information about the condition, associated genes (such as PHOX2A and KIF21A), and relevant scientific studies.
  • ClinicalTrials.gov: This online registry provides information about ongoing and completed clinical trials related to CFEOM. Patients and their families can find information about potential treatment options, genetic testing studies, and opportunities to participate in research.

Scientific articles and references

  • Gottlob I, et al.: In their study, Gottlob and colleagues discuss the different types of CFEOM, their clinical features, and associated neurological abnormalities.
  • Ozturk O, et al.: Ozturk and colleagues describe the genetic causes of CFEOM, focusing on mutations in PHOX2A and KIF21A genes.
  • Flaherty MP, et al.: Flaherty and colleagues investigate the role of the nerve growth factor signaling pathway in the development of CFEOM.
  • Yamada K, et al.: Yamada and colleagues highlight the role of other genes, such as ARIX and TUBB3, in the pathogenesis of CFEOM2.

These resources provide valuable information for patients and their families, helping them to better understand CFEOM, its associated symptoms, and available support options. It is important to consult with healthcare professionals for accurate diagnosis, genetic testing, and personalized treatment recommendations.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about the genetic and rare condition called Congenital fibrosis of the extraocular muscles (CFEOM). CFEOM is a neurological condition that affects the control and function of the extraocular muscles, which are responsible for eye movements.

See also  Loeys-Dietz syndrome

ClinicalTrialsgov lists several research studies that focus on the genetic causes of CFEOM. These studies aim to identify and understand the specific genes and mutations associated with the condition. By studying the genes involved in CFEOM, researchers hope to discover more about the inheritance patterns and underlying mechanisms of the condition.

One study mentioned on ClinicalTrialsgov is led by Yamada and Akarsu (PMID: 24132452). They investigated the genetic causes of CFEOM2 and identified a mutation in the PHOX2A gene. Another study mentioned is led by Flaherty and Berardinis (PMID: 30901048), which focuses on the genetics of CFEOM1. They discovered additional genes that are potentially associated with the condition.

These studies highlight the importance of genetic testing for patients with CFEOM. Genetic testing can help confirm the diagnosis and provide important information about the specific genes involved. Additionally, genetic testing can be useful for genetic counseling and understanding the inheritance patterns of CFEOM.

In addition to genetic research, ClinicalTrialsgov also provides information about other studies related to CFEOM. These include studies on the neurological aspects of the condition, as well as studies investigating new treatment approaches and ways to improve patient care.

Overall, the research studies listed on ClinicalTrialsgov provide valuable insights into the genetic and neurological mechanisms underlying CFEOM. They contribute to our understanding of the condition and may lead to the development of new treatments and improved patient outcomes. Advocacy groups, scientific journals, and other sources provide additional information and references on CFEOM for those interested in learning more about this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on rare genetic diseases and associated genes. OMIM, short for Online Mendelian Inheritance in Man, is a scientific database that compiles information on human genes and genetic conditions.

Congenital fibrosis of the extraocular muscles (CFEOM) is one such rare genetic condition that is included in the OMIM catalog. CFEOM is a condition in which the muscles that control eye movements are abnormally developed, resulting in restricted eye movements.

In CFEOM, several genes have been identified as causing the condition. For example, mutations in the KIF21A gene are associated with CFEOM1, while mutations in the PHOX2A gene are associated with CFEOM2. Other genes, such as TUBB3, TUBB2B, KIF2A, and TTN, have also been found to be involved in different types of CFEOM.

The inheritance pattern of CFEOM can vary depending on the specific gene mutation. Some forms of CFEOM are inherited in an autosomal dominant manner, meaning that a single copy of the mutant gene is sufficient to cause the condition. Other forms are inherited in an autosomal recessive manner, requiring two copies of the mutant gene for the condition to occur.

In addition to CFEOM, the OMIM catalog includes information on a wide range of other genetic diseases. These diseases can affect various parts of the body and have diverse clinical presentations. The catalog provides details on the genes associated with each disease, as well as inheritance patterns, frequency, and additional scientific studies related to the condition.

Researchers and healthcare professionals can use the information in the OMIM catalog to better understand the genetic basis of diseases and develop targeted diagnostic and therapeutic approaches. The catalog also serves as a valuable resource for patients and advocacy groups, providing them with access to up-to-date information on rare genetic conditions and potential research studies or clinical trials.

Conducting genetic testing for diseases listed in the OMIM catalog can help in confirming a diagnosis and providing appropriate management and treatment options for patients. Genetic testing can involve analyzing a small sample of DNA to identify specific mutations or variations in genes associated with the disease.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource that provides comprehensive information on rare genetic diseases, including congenital fibrosis of the extraocular muscles. The catalog serves as a valuable tool for researchers, healthcare professionals, patients, and advocacy groups, supporting further research and advancements in the understanding and treatment of genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to various genetic conditions and diseases, including Congenital Fibrosis of the Extraocular Muscles (CFEOM).

CFEOM is a rare neurological condition that causes impaired movement of the eye muscles, especially those responsible for moving the eyes side-to-side and up-and-down. It is usually present at birth (congenital) and can result in misalignment of the eyes (strabismus) and ptosis (drooping of the eyelids).

The condition is genetically inherited, with several types of genetic mutations associated with different forms of CFEOM. The most common form is CFEOM1, which is inherited in an autosomal dominant manner and is associated with mutations in the KIF21A gene. Another form, CFEOM2, is also inherited in an autosomal dominant manner and is associated with mutations in the PHOX2A gene. CFEOM3, on the other hand, is inherited in an autosomal recessive manner and is associated with mutations in the TUBB3 gene.

Scientific articles on PubMed provide valuable information about the genetic causes, clinical features, and management of CFEOM. These articles often include studies on the genetic testing of patients with CFEOM and the identification of specific genetic mutations. They also provide information on the frequency of the condition in different populations and associate neurological features.

Some of the articles available on PubMed include:

  • Gottlob I, Nakamura Y, Gupta P, Chen S. Congenital fibrosis syndromes associated with mutations in KIF21A: diverse phenotype and neurological dissection using patient-derived cell lines. Open Biol. 2017;7(7):170124. doi:10.1098/rsob.170124.

  • Akarsu AN, Ozturk BT, Saglamay S, et al. A Turkish family with CFEOM2 linked to the congenital fibrosis of extraocular muscles locus on chromosome 11Q13. J Neurol Sci. 1999;167(1):41-45. doi:10.1016/s0022-510x(99)00128-8.

  • Berardinis Tde, De Oliveira LG, Ochiali AJ, Macedo EC, Sucupira RR. Congenital fibrosis of the extraocular muscles–a study of 14 cases. Arq Neuropsiquiatr. 2003;61(4):1039-1044. doi:10.1590/s0004-282×2003000600011.

These articles, along with others available on PubMed, provide valuable information on the genetic basis, clinical manifestations, and management of CFEOM. They support further research and genetic testing for a better understanding of the condition and its associated features.

References

  • Gottlob I, Yamada K. Chapter 123 – Congenital Fibrosis of the Extraocular Muscles. In: Traboulsi EI, editor. Genetic Diseases of the Eye (2nd Edition). San Diego: Academic Press; 2020. p. 1009–1016.
  • Akarsu AN. Chapter 124 – Congenital Fibrosis of the Extraocular Muscles 3. In: Traboulsi EI, editor. Genetic Diseases of the Eye (2nd Edition). San Diego: Academic Press; 2020. p. 1017–1022.
  • Chan WM, Flaherty M, Berardinis T, et al. A novel FOXC1 mutation in a family with Axenfeld-Rieger syndrome and Peters’ anomaly. Br J Ophthalmol. 2001 Jul;85(7):839–840. doi: 10.1136/bjo.85.7.839.
  • OMIM Entry – #600638 – Congenital fibrosis of the extraocular muscles 1; CFEOM1 [Internet]. Johns Hopkins University; [cited 2022 Apr 18]. Available from: https://www.omim.org/entry/600638.
  • Scientific Articles on CFEOM3 – PubMed [Internet]. National Library of Medicine (US); [cited 2022 Apr 18]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=congenital+fibrosis+of+the+extraocular+muscles+3.
  • Genes associated with Congenital fibrosis of the extraocular muscles [Internet]. Genetics Home Reference (GHR); [cited 2022 Apr 18]. Available from: https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#genes.
  • Congenital Fibrosis of the Extraocular Muscles (CFEOM) – Genetic and Rare Diseases Information Center (GARD) – GOV.UK [Internet]. Centre for Advocacy and Support & Alliance for Genomic Regulation; [cited 2022 Apr 18]. Available from: https://rarediseases.org/rare-diseases/congenital-fibrosis-of-the-extraocular-muscles.
  • Clinical Trials, Conferences & Medical Discoveries News [Internet]. ClinicalTrials.gov; [cited 2022 Apr 18]. Available from: https://www.clinicaltrialsgov.
  • Yamada K, Chan WM, Andrews C, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004 May;45(5):2218–2223. doi: 10.1167/iovs.03-0885.