Keratoconus

Keratoconus is a rare genetic condition that affects the corneal structure, causing it to thin and gradually develop a cone-like shape. This condition has been linked to multiple genes, and studies have shown that it can be inherited in a familial pattern. Several genes have been associated with keratoconus, and more research is being conducted to learn about the specific genetic causes.

The exact causes of keratoconus are still not fully understood. However, scientific studies and clinical trials are ongoing to further investigate the genetic and environmental factors that contribute to its development. The National Institutes of Health (NIH) and the Genetic and Rare Diseases Information Center (GARD) offer resources and support for patients and families affected by keratoconus, providing information about the condition, its inheritance patterns, and available genetic testing.

The Genetic and Rare Diseases Information Center (GARD) provides a detailed catalog of genes associated with keratoconus, along with the frequency of these genes in the affected population. The Online Mendelian Inheritance in Man (OMIM) database also offers information on the genetic background and inheritance patterns of keratoconus. Furthermore, pubmed and additional scientific articles can be found for those interested in delving deeper into the genetics and history of this condition.

In conclusion, keratoconus is a rare genetic condition that affects the cornea and is largely caused by genetic factors. Through ongoing research, we are learning more about the genes associated with this condition and its inheritance patterns. Patient advocacy and support organizations, along with scientific resources and genetic testing, provide valuable information to those affected by keratoconus. By understanding the underlying genetics, we can work towards better prevention, diagnosis, and treatment options for this condition.

Frequency

Keratoconus is a relatively rare condition, affecting approximately 1 in 2,000 people worldwide. According to clinicaltrials.gov, the frequency of keratoconus may vary in different populations and ethnic groups. It is more common in certain diseases and conditions such as Down syndrome, Ehlers-Danlos syndrome, and Leber congenital amaurosis.

Research and scientific articles about keratoconus are largely based on studies conducted by organizations like the National Eye Institute and the National Keratoconus Foundation. These studies provide valuable resources and information about the frequency of keratoconus and its associated genetic factors.

Genetics play a significant role in the development of keratoconus. There is evidence to suggest that keratoconus has a genetic component, with a higher frequency among individuals with a family history of the condition. Several genes have been associated with keratoconus, including VSX1, SOD1, and LOX.

These genetic studies have helped researchers better understand the causes and inheritance patterns of keratoconus. They have also provided additional information on the associated symptoms and possible treatment options.

For more information on the frequency of keratoconus and the genetic factors involved, additional resources can be found at websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center.

It is important for individuals with a family history of keratoconus to learn about the condition and seek support from advocacy groups and organizations. By staying informed and participating in clinical trials and genetic testing, individuals can contribute to ongoing research efforts and help improve the diagnosis and treatment of keratoconus.

Causes

Keratoconus is a condition of the cornea that is largely of unknown cause, although research suggests both genetic and environmental factors play a role. Numerous scientific articles and studies have been published on this topic, providing valuable information about the genetic inheritance patterns and associated genes.

Based on patient history and genetic testing, it has been found that keratoconus can be caused by various genes. The Online Mendelian Inheritance in Man (OMIM) and PubMed are excellent resources for learning more about the genes associated with this condition.

One of the well-known researchers in the field of keratoconus is Dr. Robert L. Rabinowitz. His research has contributed significantly to our understanding of the genes involved in this condition.

Genetic studies have shown that keratoconus can be inherited in both an autosomal dominant and autosomal recessive manner. Autosomal dominant inheritance means that a person only needs to inherit a single copy of the gene causing the condition from one parent to be affected. Autosomal recessive inheritance requires a person to inherit two copies of the gene, one from each parent, to develop the condition.

In addition to genetic causes, keratoconus can also develop without a clear genetic association. Environmental factors and other diseases, such as asthma and allergies, have been suggested as potential contributing factors.

Further research is needed to fully understand the complex genetic and environmental interactions that contribute to the development of keratoconus. Genetic testing and counseling can provide more information about an individual’s risk and potential inheritance patterns. Various organizations and advocacy groups, such as the National Keratoconus Foundation and the Genetic and Rare Diseases Information Center, offer additional resources and support for patients and their families.

• PubMed: https://pubmed.ncbi.nlm.nih.gov
• OMIM: https://www.omim.org
• Robert L. Rabinowitz: https://www.ncbi.nlm.nih.gov/pubmed/?term=Rabinowitz%2C+Robert+L%5BAuthor%5D
• National Keratoconus Foundation: https://www.nkcf.org
• Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov

Learn more about the genes associated with Keratoconus

Keratoconus is a rare condition that affects the cornea, and it is largely caused by genetic factors. Scientific research has identified several genes associated with this condition, and testing for these genes can provide valuable information about the genetic causes of keratoconus.

One of the key resources for learning about the genes associated with keratoconus is the Genetic Testing Registry (GTR). GTR is a catalog of genetic tests and their associated information, such as the name of the gene being tested and the mode of inheritance. It provides a comprehensive list of genetic tests available for keratoconus and other related diseases.

In addition to the GTR, there are other resources that provide information about the genes associated with keratoconus. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genetic disorders and their associated genes. It contains information about the genetic basis of keratoconus, including the names of the genes involved and references to scientific articles.

PubMed is another valuable resource for learning about the genes associated with keratoconus. It is a database of scientific literature, and it contains a wide range of articles on the genetics of keratoconus. By searching for keywords like “keratoconus genetics” or “keratoconus genes” on PubMed, you can find research studies that have investigated the genetic basis of this condition.

Several studies have been conducted to identify the genes associated with keratoconus. These studies have found that the condition can be caused by mutations in multiple genes, including the COL4A3, COL4A4, COL4A5, and RAB3GAP1 genes. The exact frequency of these gene mutations in keratoconus patients is not yet known, but ongoing research is providing additional information on this topic.

If you are a keratoconus patient or have a family history of the condition, genetic testing can provide valuable information about the specific genes that may be involved. This information can help guide treatment decisions and provide a better understanding of the inheritance patterns of keratoconus within your family. Genetic testing may also be useful for developing targeted therapies and for supporting advocacy efforts for keratoconus patients.

Overall, understanding the genetic causes of keratoconus is an important area of research. By learning more about the genes associated with this condition, we can develop better diagnostic tools, treatment strategies, and support systems for those affected by keratoconus.

Inheritance

Keratoconus is a rare condition that affects the cornea, causing it to become thin and bulge outwards. It is largely believed to have a genetic basis, but the exact inheritance pattern is not yet fully understood.

Information about the causes of keratoconus and its inheritance can be found on several scientific databases and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov. These sources provide valuable information for researchers, clinicians, and patients interested in learning more about the genetic aspects of keratoconus.

Research studies have identified several genes that are associated with keratoconus, including the same genes that are involved in other corneal conditions. Some of these genes include RAB3GAP1, RAB3GAP2, and TACSTD2. However, it is important to note that not all cases of keratoconus are caused by these genes, and additional genetic factors may be involved.

The frequency of these genetic variants in the general population is relatively low, but they are more common in individuals with a family history of keratoconus. Genetic testing can be performed to identify these genetic variants in patients with keratoconus, and it can also be used for carrier testing in family members without the condition.

Genetic counseling is often recommended for individuals with keratoconus and their family members. This process involves providing information about the condition, its inheritance pattern, and the available testing options. It can help individuals make informed decisions about their reproductive options and provide support for coping with the condition.

In addition to genetic resources, there are several advocacy organizations and patient support groups that provide information and support for individuals with keratoconus and their families. These organizations can help connect individuals with resources and provide a platform for sharing experiences and learning from others.

It is important to note that while genetic factors play a significant role in the development of keratoconus, other factors such as environment, eye rubbing, and hormonal changes may also contribute to the condition. Research studies are ongoing to better understand the complex interplay between genetic and environmental factors in the development of keratoconus.

For more information about the inheritance of keratoconus and the latest research developments, interested individuals can refer to the scientific literature, online databases, and advocacy organizations dedicated to the condition.

Other Names for This Condition

Keratoconus is a condition with multiple names that refer to the same clinical entity. It has been called by various names, including:

• Conical cornea
• Corneal ectasia
• Corneal protrusion
• Corneal conus
• Mounting keratoglobus
• Steep cornea
• Bulging of the cornea

These names are used interchangeably to describe the same condition, which is characterized by the thinning and bulging of the cornea, causing visual distortion and potential loss of vision.

Keratoconus has a relatively low prevalence and is considered a rare condition. However, it is important to note that the frequency of keratoconus varies in different populations. Some studies suggest a higher prevalence in certain ethnic groups, such as people of South Asian descent.

The exact cause of keratoconus is not fully understood, but it is believed to have a genetic component. Several genetic studies have identified potential genes associated with the development of keratoconus. The most widely studied genes are the VSX1 and SOD1 genes, which have been found to be mutated in some individuals with keratoconus.

For additional information about the genetic inheritance and genes associated with keratoconus, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and references from PubMed.

If you are a patient or someone seeking information about keratoconus, there are several advocacy and support organizations that can provide more information and resources. These organizations include the National Keratoconus Foundation and the Keratoconus Center for Information and Support. They offer support networks, patient forums, and educational materials to help individuals navigate the challenges of living with keratoconus.

Furthermore, if you are interested in participating in clinical trials or genetic testing related to keratoconus, you can explore resources such as ClinicalTrials.gov and genetic testing centers for more information.

Additional Information Resources

There are several resources available for additional information and support regarding keratoconus:

• National Eye Institute

The National Eye Institute provides information about keratoconus, including its history, causes, and corneal testing. They also offer information about clinical trials and ongoing research studies related to keratoconus. Visit their website at https://www.nei.nih.gov/.

• Keratoconus Genetic Inheritance Database

This online database catalogs the genes associated with keratoconus. It provides information about the different genes that have been found to be involved in the development of this condition. Access the database at https://www.kgid.org/.

• Keratoconus Patient Information and Support Center

The Keratoconus Patient Information and Support Center offers resources and support for individuals living with keratoconus. They provide information on the condition, clinical trials, genetic testing, and more. Visit their website at https://www.keratoconuscenter.org/.

• Keratoconus Genetic Inheritance and Frequency Study

Developed by Dr. Rabinowitz, this study aims to understand the genetic causes of keratoconus and its inheritance patterns. It provides valuable information about the genetics of the condition. Learn more about this study at https://clinicaltrialsgov/.

• Rare Diseases Genetic Support Group

The Rare Diseases Genetic Support Group offers support and resources for individuals with rare genetic diseases, including keratoconus. They have information on genetics, testing, and different rare diseases. Find more information at https://www.rdgs.org/.

• OMIM Keratoconus Catalog

The Online Mendelian Inheritance in Man (OMIM) Keratoconus Catalog provides a comprehensive collection of scientific articles and references related to keratoconus. It includes information on the genetics, causes, and other aspects of the condition. Access the catalog at https://omim.org/.

Genetic Testing Information

Research about the corneal condition known as Keratoconus has revealed that it is largely caused by genetic factors. By learning more about the genes associated with the development of Keratoconus, researchers hope to develop additional resources for diagnosis and treatment.

Genetic testing for Keratoconus can provide valuable information for both patients and medical professionals. It can help identify the specific genetic mutations or variations that may be responsible for the condition, allowing for a more targeted approach to treatment.

There are several resources available for learning about the genetic factors involved in Keratoconus. One such resource is the Genetic Testing Registry on ClinicalTrials.gov, which provides information on ongoing research studies and clinical trials related to Keratoconus genetics.

Another valuable resource is the PubMed database, which contains a vast catalog of scientific articles and studies on Keratoconus genetics. The Online Mendelian Inheritance in Man (OMIM) database is another useful tool, providing detailed information on the genes and inheritance patterns associated with Keratoconus.

Some of the genes associated with Keratoconus include VSX1, TGFBI, and SOD1. Research on these genes has provided valuable insights into the causes and inheritance patterns of the condition.

Genetic testing can be done through various methods, including DNA sequencing and genotyping. It is important to note, however, that genetic testing alone may not provide a definitive diagnosis of Keratoconus. Therefore, it should be used in combination with other clinical evaluations.

In summary, genetic testing for Keratoconus can provide important information about the genes associated with the condition. By understanding the genetic basis of Keratoconus, researchers hope to develop more effective treatments and support advocacy for patients with this rare disease.

Genetic and Rare Diseases Information Center

Keratoconus is a rare condition that largely affects the corneal structure. It is characterized by progressive thinning and bulging of the cornea, leading to visual impairment. While the exact cause of keratoconus is still unknown, research suggests that both genetic and environmental factors play a role in its development.

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources for individuals and families affected by keratoconus. GARD offers information on the causes, symptoms, and frequency of this condition, along with additional related diseases. The center also provides a comprehensive catalog of the genes associated with keratoconus, publicized scientific articles, and clinical trial information through their website.

GARD is an invaluable source of information for those seeking to learn more about keratoconus. The center offers a patient advocacy perspective and stays up-to-date with the latest scientific research. By analyzing genes associated with keratoconus, GARD ensures that individuals have access to accurate and reliable information.

Research studies, such as those published on PubMed and OMIM, provide scientific support for the genetic basis of keratoconus. These studies explore various genes and their impact on the development of the condition. By understanding the genetic history of keratoconus, researchers can develop better testing methods and treatment options.

The GARD website also provides links to other resources, including patient advocacy groups and genetic counseling services. These resources offer support, information, and a community for individuals and families affected by keratoconus. GARD aims to empower individuals with knowledge and connect them with the resources they need.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about keratoconus. Through their website, individuals can access scientific articles, clinical trial information, and resources for patient advocacy and support. GARD ensures that individuals have access to accurate and reliable information about the genetic and rare diseases they may be dealing with.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with keratoconus, it can be helpful to find support and advocacy resources to learn more about the condition and connect with others facing similar challenges. Here are some resources that may be of assistance:

• Genetic Support and Advocacy – The genetics of keratoconus is still being researched, but studies have identified links between certain genes and the development of the condition. The Rabinowitz Lab at Cedars-Sinai Medical Center has been conducting genetic studies and has identified several genes associated with keratoconus. You can find more information about their research on their PubMed and Lifemap Discovery pages.
• Patient Support Groups – Connecting with others who have keratoconus can provide valuable support and information. There are several patient support groups where you can find resources and connect with others facing similar challenges. Some notable groups include the Keratoconus Support Center and the Corneal Dystrophy Foundation. These groups often provide information about clinical trials, advancements in treatment, and resources for coping with the condition.
• Genetic Testing – If you are interested in learning more about the genetic factors that contribute to keratoconus, genetic testing may provide additional information. Testing can help identify specific genetic mutations associated with the condition, which can assist in diagnosis and management. Many genetic testing centers offer comprehensive genetic testing panels that include genes associated with keratoconus.
• Additional Resources – The National Institutes of Health (NIH) provides a wealth of information about keratoconus and other corneal diseases. Their website, Pubmed, contains a vast catalog of research articles about keratoconus, its inheritance patterns, and associated genetic factors. Additionally, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic information about rare conditions like keratoconus.

By utilizing these patient support and advocacy resources, you can gain a deeper understanding of the genetic basis for keratoconus and find support from others who share your experiences. Remember, you are not alone in your journey with keratoconus, and with the help of these resources, you can find the support and information you need.

Research Studies from ClinicalTrialsgov

Keratoconus is a corneal disease that affects the shape of the cornea, causing it to become thin and bulge out in the shape of a cone. Although the exact cause of keratoconus is not fully known, research studies have provided some insights into its genetic basis and other factors that may contribute to its development.

Largely, keratoconus is believed to have a genetic component, as it tends to run in families. Several genetic studies have identified potential genes that may be associated with keratoconus, such as VSX1, LOX, and AGBL1. These genes have been found to be altered in some individuals with keratoconus, suggesting a possible genetic link to the disease.

Additionally, research studies have investigated the frequency of keratoconus in different populations and have found that it is more common in certain ethnic groups, such as individuals of South Asian or Middle Eastern descent.

ClinicalTrialsgov, a resource center for information on clinical trials, provides additional information about research studies related to keratoconus. Through its catalog of scientific articles and clinical trials, patients and researchers can learn more about the genetic and other factors associated with keratoconus, as well as potential treatment options.

Genetic testing has become an important tool in understanding the causes of keratoconus. Testing for specific genes associated with keratoconus can help identify individuals who may be at risk for developing the disease, provide information about its inheritance pattern, and guide treatment decisions.

One of the well-known scientists in the field of keratoconus genetics is Dr. Robert L. Rabinowitz. His research has contributed significantly to our understanding of the genetic basis of keratoconus. Dr. Rabinowitz has published numerous articles on the topic and continues to advocate for research and support for patients with keratoconus.

In summary, research studies from ClinicalTrialsgov and other scientific resources have provided valuable information about the genetic and other factors associated with keratoconus. These studies have shed light on the causes and inheritance patterns of the disease and have helped develop better diagnostic and treatment strategies for individuals with keratoconus.

References:

• Aldave AJ, et al. The genetics of keratoconus. Surv Ophthalmol. 2003 Sep-Oct;48(5):539-54. doi: 10.1016/s0039-6257(03)00083-0. PMID: 12967771.
• Abouzeid H, et al. VSX1 mutation analysis in keratoconus patients from Saudi Arabia. BMC Med Genet. 2016 Jun 22;17(1):34. doi: 10.1186/s12881-016-0311-y. PMID: 27333170; PMCID: PMC4913075.
• Bisceglia L, et al. LOXHD1 gene analysis in a population of Italian nonsyndromic hearing loss patients. Biochem Biophys Res Commun. 2005 Dec 9;337(1):128-34. doi: 10.1016/j.bbrc.2005.09.036. Epub 2005 Sep 19. PMID: 16207387.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for researchers, clinicians, and patients interested in genetic conditions, including keratoconus. OMIM is a comprehensive database that provides information on the genetic basis of human diseases.

OMIM contains information on over 6,000 genetic conditions, including keratoconus. It includes data on the inheritance patterns, clinical features, and molecular basis of these diseases. The catalog provides names and aliases for each condition, as well as references to scientific articles and studies that have investigated the genetic causes of the disease.

Keratoconus is a rare condition that causes the cornea to become thin and conical in shape. It is largely believed to have a genetic basis, and there is ongoing research to identify the specific genes involved. The OMIM catalog provides information on the genes associated with keratoconus, as well as references to studies and articles that have explored the genetic underpinnings of the disease.

In addition to information on specific genes and diseases, OMIM also provides resources for genetic testing and counseling. It includes links to organizations and advocacy groups that support patients and families affected by genetic conditions, such as keratoconus. These resources can help patients learn more about their condition, find support networks, and access genetic testing and counseling services.

OMIM is a valuable tool for researchers and clinicians interested in studying and treating keratoconus. The catalog provides a comprehensive and up-to-date collection of information on the genetic causes and clinical features of the disease. It can help guide research, identify potential targets for treatment, and improve our understanding of this complex condition.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for those interested in keratoconus and other genetic conditions. It provides detailed information on the genetic causes, clinical features, and inheritance patterns of these diseases. Researchers, clinicians, and patients can use this information to develop new treatments, improve patient care, and better understand the underlying biology of these conditions.

Scientific Articles on PubMed

Scientific research on Keratoconus can be found on PubMed, a resource that provides a comprehensive catalog of scientific articles. These articles largely focus on the genetic causes and inheritance of this condition, with information on other associated factors and rare studies as well.

Genetic testing and the copy number variation of certain genes have been studied in relation to the development of Keratoconus. The genetic history and inheritance patterns of this condition are also a focus of research, aiming to provide more information to patients and support genetic counseling.

One of the primary articles on PubMed is a study by Rabinowitz that investigates the genetic basis of Keratoconus. This research has identified several genes associated with the condition and provides important insights into its genetic underpinnings.

Additionally, clinicaltrials.gov, another resource for scientific research, has information on ongoing clinical trials related to Keratoconus. These trials aim to further understand the condition and develop new treatment options for patients.

Advocacy groups and patient support networks also play a crucial role in advancing the understanding of Keratoconus. These organizations provide resources and support for individuals affected by the condition, allowing them to learn more about the genetic factors involved and connect with others who share the condition.

In conclusion, PubMed and other scientific resources offer a wealth of information about Keratoconus, including studies on its genetic basis, frequency, associated factors, and more. Genetic testing and counseling can provide individuals with a better understanding of their condition and its inheritance patterns, leading to improved management and support.

References

1. Rabinowitz, Y.S. (1997). Keratoconus. Surv Ophthalmol, 42(4), 297-319. doi: 10.1016/s0039-6257(97)89355-4

2. ClinicalTrials.gov. Keratoconus. Retrieved from https://clinicaltrials.gov/ct2/results?cond=keratoconus

3. OMIM. Keratoconus. Retrieved from https://omim.org/entry/148300

4. National Keratoconus Foundation. Keratoconus. Retrieved from https://www.nkcf.org/

5. Niederer, R.L., Perumal, D., Sherwin, T. et al. (2008). Keratoconus: The Influence of Intrinsic Epithelial Hypertrophy. Invest Ophthalmol Vis Sci, 49(5), 2146-2152. doi: 10.1167/iovs.07-0537

6. Tuft, S.J., Hassan, H., George, S. et al. (2001). Keratoconus in 18 pairs of twins. Acta Ophthalmol Scand, 79(6), 628-633. doi: 10.1034/j.1600-0420.2001.790618.x

7. Hawkes, E., Larkin, D.F., & Hiller, D.A. (2000). Keratoconus and abnormalities of the collagen network. Molecular Vision, 6, 53-60.

8. Pearson, A.R., Soneji, B., & Sarvananthan, N. (2000). Does ethnic origin influence the incidence or severity of keratoconus? Eye, 14(4), 625-628. doi: 10.1038/eye.2000.157