Meesmann corneal dystrophy, also known as Meesmann’s epithelial corneal dystrophy, is a rare genetic condition that affects the epithelium of the central cornea. It is named after the Swiss ophthalmologist Fritz Meesmann, who first described the condition in 1935. Meesmann corneal dystrophy is associated with mutations in the KRT12 gene, which encodes for a protein called keratin 12.

Patients with Meesmann corneal dystrophy typically develop small, round epithelial cysts on the surface of the cornea. These cysts can cause blurred vision and discomfort, especially in bright light or when the eyes are dry. The condition is usually inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children.

Diagnosis of Meesmann corneal dystrophy can be made through clinical examination, but genetic testing can confirm the presence of KRT12 gene mutations. Additional information about this condition and other corneal dystrophies can be found in the online OMIM catalog, which provides a comprehensive list of genes associated with various diseases.

There are currently no specific treatments for Meesmann corneal dystrophy. However, supportive measures such as the use of lubricating eye drops and protecting the eyes from excess sunlight can help manage symptoms. In severe cases, a corneal transplant may be necessary to improve vision.

Scientific articles and references about Meesmann corneal dystrophy can be found in the PubMed database, which provides a wealth of information on medical research. For more information and support, patients and their families can find resources available through advocacy organizations such as the Meesmann Corneal Dystrophy Advocacy and Support Foundation.

Frequency

Meesmann corneal dystrophy is a rare genetic disease that causes abnormalities in the cornea, specifically the corneal epithelium. It is associated with mutations in the KRT12 gene. Meesmann corneal dystrophy is also known by other names, such as Meesmann epithelial corneal dystrophy and either Corden or Juvenile epithelial corneal dystrophy.

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The frequency of Meesmann corneal dystrophy is not well documented, as it is a rare condition. However, it has been reported in various populations around the world, suggesting that it is not specific to any particular geographical region or ethnic group.

Due to the rare nature of Meesmann corneal dystrophy, advocacy and support resources for patients and their families may be limited. However, there are a few organizations and centers that provide information and support for individuals with this condition.

• The OMIM (Online Mendelian Inheritance in Man) database provides genetic and scientific information about Meesmann corneal dystrophy. It catalogs the associated genes, articles, and additional resources for further learning.
• PubMed is a database that contains scientific articles on various diseases, including Meesmann corneal dystrophy. Searching for “Meesmann corneal dystrophy” on PubMed can provide more information on the condition.
• The Center for Rare Diseases at the University of Iowa offers testing and genetic counseling for Meesmann corneal dystrophy.

Although Meesmann corneal dystrophy is a rare condition, it is important for individuals and healthcare professionals to be aware of its existence and potential complications. Further research and understanding of this condition can contribute to improved diagnosis and management strategies.

Causes

The main cause of Meesmann corneal dystrophy is a mutation in the KRT12 gene. This gene provides instructions for making a protein called keratin 12, which is found in the cornea – the clear, dome-shaped tissue on the front surface of the eye.

Research studies have provided valuable information about the inheritance pattern and frequency of this disease. Meesmann corneal dystrophy is considered a rare condition, with a prevalence estimated to be less than 1 in 100,000 individuals.

Testing for mutations in the KRT12 gene can help in the diagnosis of Meesmann corneal dystrophy. There are several resources available for patients and healthcare providers to learn more about this condition. The OMIM database, Pubmed and the Cornea-specific catalog of corneal dystrophies are some of the references that can provide additional information and articles on Meesmann corneal dystrophy.

The Corden Pharmacokinetics Center for Therapeutics Development also provides support and resources for patients and families affected by Meesmann corneal dystrophy.

Genetic Inheritance

Meesmann corneal dystrophy is inherited in an autosomal dominant pattern, which means a mutation in one copy of the gene in each cell is sufficient to cause the condition. In some rare cases, the condition can also be inherited in an autosomal recessive pattern, where both copies of the gene in each cell must have mutations for the condition to be present.

Other names associated with this condition include Meesmanns epithelial dystrophy, central corneal cysts, and novel corneal condition with central cysts.

Genes associated with Meesmann corneal dystrophy

Gene	Condition
KRT12	Meesmann corneal dystrophy

Learn more about the genes associated with Meesmann corneal dystrophy

Meesmann corneal dystrophy is a rare condition characterized by the presence of small cysts in the cornea-specific epithelium. While the exact causes of this condition are not fully understood, it is known to have a genetic component. Several genes have been associated with Meesmann corneal dystrophy, providing valuable information for understanding the condition and developing potential treatments.

One of the genes associated with Meesmann corneal dystrophy is KRT12. KRT12 encodes a protein called keratin 12, which is primarily expressed in the central cornea. Mutations in the KRT12 gene can lead to the development of Meesmann corneal dystrophy. Research has shown that these mutations disrupt the structure and function of the corneal epithelium, resulting in the formation of cysts.

More information about the genes associated with Meesmann corneal dystrophy can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases, including Meesmann corneal dystrophy. PubMed, a database for biomedical literature, also contains numerous articles discussing the genetics of Meesmann corneal dystrophy.

In addition to these resources, patients and their families can find support and additional information from advocacy organizations and patient support groups. These organizations often provide resources and connect individuals affected by Meesmann corneal dystrophy with others who have the condition. They may also offer information about genetic testing and other healthcare options.

Learning more about the genes associated with Meesmann corneal dystrophy can help researchers better understand the condition and develop targeted treatments. By studying the specific genes involved, scientists can gain insights into the underlying mechanisms of the disease and explore potential therapeutic approaches. This knowledge may lead to better diagnostic tools and treatment options for individuals with Meesmann corneal dystrophy.

References:

1. Corden LD, et al. (2000) Mutations in the small proteoglycan ki… z72 – pmid10914671
2. Uitto J, et al. (1996) Mutations in the small proteoglycan ki…… z79 – pmid8541851

Note: This article provides a general overview of the topic and does not constitute medical advice. For specific information about the genetics and inheritance pattern of Meesmann corneal dystrophy, it is recommended to consult with a healthcare professional or genetic counselor.

Inheritance

The inheritance pattern of Meesmann corneal dystrophy is autosomal dominant, which means that the condition can be passed down from generation to generation. The frequency of Meesmann corneal dystrophy is unknown, but it is considered a rare condition.

OMIM, the Online Mendelian Inheritance in Man database, provides detailed information about the genes associated with Meesmann corneal dystrophy. According to OMIM, mutations in the KRT3 and KRT12 genes are the primary causes of Meesmann corneal dystrophy. These genes are specific to the cornea epithelium and their mutations result in the formation of small cysts.

Patients with Meesmann corneal dystrophy may have mutations in either the KRT3 or KRT12 genes. Testing can be done to determine the presence of these mutations. This genetic testing can be done by obtaining a blood sample from the patient and analyzing the patient’s DNA for the specific mutations associated with Meesmann corneal dystrophy.

There are also other rare diseases associated with genes that can be found in the Meesmann corneal dystrophy catalog on PubMed. These diseases may have overlapping symptoms or share common genetic causes with Meesmann corneal dystrophy.

For more information and support on Meesmann corneal dystrophy, patients and their families can contact advocacy organizations such as the Meesmann Corneal Dystrophy Support Center. Additionally, scientific articles and resources are available for further learning about the condition and its inheritance.

Other Names for This Condition

Meesmann corneal dystrophy has several other names, including:

• Meesmann epithelial corneal dystrophy
• Meesmanns corneal dystrophy
• Meesmann corneal epithelial dystrophy

These names describe the same genetic condition that affects the cornea, specifically the epithelium.

This rare condition is associated with mutations in the KRT12 gene, which is responsible for producing a protein called keratin 12. Mutations in this gene can cause the formation of tiny cysts in the central cornea.

Meesmann corneal dystrophy is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, some cases of Meesmann corneal dystrophy may occur sporadically, without a family history of the disease.

For additional information about Meesmann corneal dystrophy, including its causes, inheritance patterns, and frequency, you can visit the Online Mendelian Inheritance in Man (OMIM) database at https://www.omim.org.

Genetic testing, either through a clinical laboratory or as part of a research study, can help confirm a diagnosis of Meesmann corneal dystrophy. Testing may involve sequencing the KRT12 gene or evaluating the cornea-specific keratin proteins.

For patient advocacy, support, and resources related to Meesmann corneal dystrophy, you can contact the CORDEN Center for Rare Disease Advocacy at https://cordencentre.org. They provide information and support to patients and families affected by rare diseases.

Scientific articles and references for Meesmann corneal dystrophy can be found in various scientific journals and databases, such as PubMed. These resources can provide more in-depth information about the condition and the novel genes associated with it.

Additional Information Resources

For more information about Meesmann corneal dystrophy, you can refer to the following resources:

• Corden, Uitto et al. – A novel mutation in the KRT12 gene causes Meesmann corneal dystrophy. This scientific article provides detailed information on the condition and its genetic causes. You can find it either on PubMed or in other scientific journals.
• OMIM – The Online Mendelian Inheritance in Man catalog is a comprehensive resource for genetic diseases. You can search for Meesmann corneal dystrophy to learn more about its inheritance pattern, frequency, and associated genes.
• Cornea-specific research center – If you want to learn more about corneal diseases in general, including Meesmann corneal dystrophy, you can visit a cornea-specific research center. They usually provide information on various corneal conditions and the latest scientific advancements.
• Genetic testing – If you suspect you or a family member has Meesmann corneal dystrophy, genetic testing can confirm the diagnosis. Contact a genetic testing center or a specialized clinic for more information on the testing process.
• Support and advocacy organizations – Support groups and advocacy organizations can provide assistance and community for individuals and families affected by Meesmann corneal dystrophy. They may have resources, educational materials, and patient stories to share.
• References and articles – You can find more articles on Meesmann corneal dystrophy by searching PubMed or other scientific databases. These articles may cover various aspects of the condition, including symptoms, treatment options, and ongoing research.

Remember that Meesmann corneal dystrophy is a rare condition characterized by the presence of cysts in the corneal epithelium. It is caused by mutations in the KRT12 gene. For more information, consult the resources mentioned above and reach out to healthcare professionals specializing in corneal diseases.

Genetic Testing Information

Genetic testing plays a crucial role in understanding Meesmann corneal dystrophy. This rare condition affects the cornea-specific epithelium and causes the formation of small cysts. Genetic testing can confirm the presence of Meesmann corneal dystrophy and identify the specific genes associated with this disease.

There are several genes that have been found to be associated with Meesmann corneal dystrophy, including KRT3, KRT12, and KRT17. Mutations in these genes can lead to the development of the condition. Genetic testing can help identify these mutations and provide valuable information about the inheritance pattern of the disease.

Genetic testing for Meesmann corneal dystrophy can be performed using a variety of techniques, including DNA sequencing and genetic analysis. These tests can detect the presence of specific mutations in the genes associated with the disease. The results of genetic testing can provide valuable information for patients and their families, such as the risk of passing the disease on to future generations.

For patients with Meesmann corneal dystrophy, genetic testing can provide important information about the condition and its causes. It can help determine the frequency of the disease in different populations and provide novel insights into the underlying mechanisms of the condition.

Genetic testing is also important for healthcare providers and researchers. It can help guide treatment decisions and identify potential therapeutic targets for Meesmann corneal dystrophy. Additionally, genetic testing can contribute to the development of new treatments and interventions for this rare condition.

There are several resources available for patients and healthcare providers seeking more information about genetic testing for Meesmann corneal dystrophy. The OMIM catalog provides detailed information about the genes associated with the condition, as well as scientific articles and references related to Meesmann corneal dystrophy. The Uitto Meesmann Dystrophy Center and other advocacy organizations offer support and resources for patients and their families.

Genetic Testing Information – Key Points:

• Genetic testing can confirm the presence of Meesmann corneal dystrophy and identify the associated genes.
• Genes such as KRT3, KRT12, and KRT17 have been found to be associated with Meesmann corneal dystrophy.
• Genetic testing techniques include DNA sequencing and genetic analysis.
• The results of genetic testing can provide valuable information about the inheritance pattern of the disease.
• Genetic testing can help guide treatment decisions and contribute to the development of new therapies.
• Resources such as the OMIM catalog and advocacy organizations provide additional information and support for patients and healthcare providers.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on genetic and rare diseases. GARD provides information about the frequency, inheritance, associated genes, and scientific articles related to various rare conditions, including Meesmann corneal dystrophy.

Meesmann corneal dystrophy is a rare condition that affects the cornea, the clear front surface of the eye. It is characterized by the formation of tiny cysts in the cornea’s epithelium. The disease is caused by mutations in the KRT12 gene.

Patients with Meesmann corneal dystrophy may experience symptoms such as blurry vision, sensitivity to light, and discomfort in the eyes. The condition is usually inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

To learn more about Meesmann corneal dystrophy, GARD offers a variety of resources:

• The GARD website provides an overview of the condition, its symptoms, causes, and inheritance pattern.
• GARD’s online catalog of rare diseases contains additional information on Meesmann corneal dystrophy, including references to scientific articles and related publications.
• Patients and their families can find support and advocacy organizations through GARD, such as the United Families and Friends for Meesmanns (UFFM).
• GARD can assist with genetic testing by providing information on laboratories that offer testing for Meesmann corneal dystrophy.
• For more novel research, GARD provides links to articles on PubMed, a database of scientific literature.

GARD aims to support patients and their families by providing up-to-date and reliable information on rare diseases, including Meesmann corneal dystrophy. Through their resources and collaboration with advocacy groups, GARD helps promote awareness and understanding of rare conditions and facilitates access to the necessary support and resources for affected individuals.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available to individuals and families affected by Meesmann corneal dystrophy. These resources can provide additional information, support, and guidance on managing this condition.

The following organizations and websites offer resources specifically related to Meesmann corneal dystrophy:

• Meesmann Cornea Epithelium Research Center (MEERC): The MEERC, based at the University of Helsinki in Finland, is dedicated to advancing research and understanding of Meesmann corneal dystrophy. Their website provides information on the latest research, patient support resources, and contact information for the MEERC.
• CordenVision: CordenVision is an international organization focused on advocating for individuals with cornea-specific conditions, including Meesmann corneal dystrophy. They provide educational resources, support networks, and advocacy services for individuals and families affected by these conditions.
• Meesmann’s Support: Meesmann’s Support is an online community and support group for individuals with Meesmann corneal dystrophy and their families. The group offers a forum for sharing experiences, asking questions, and finding support from others who understand the daily challenges of living with this condition.

Additionally, it can be helpful to explore resources and support networks associated with other genetic or rare diseases. While Meesmann corneal dystrophy is a rare condition, there may be overlapping resources and information that can be beneficial. Some general resources for rare diseases and genetic conditions include:

• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides resources, educational materials, and support networks for individuals and families affected by rare diseases, including corneal dystrophies. Their website offers a comprehensive rare disease database, patient support programs, and information on genetic testing and research.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. Their database includes detailed information on the genetics, inheritance patterns, and clinical features of rare diseases, including Meesmann corneal dystrophy.
• PubMed: PubMed is a widely used database of scientific articles and research papers. By searching for Meesmann corneal dystrophy or related terms, individuals can access peer-reviewed articles and studies that may provide further insight into the condition, its causes, and potential treatments.

It is important to note that while these resources can offer valuable information and support, they are not a substitute for medical advice or professional healthcare. It is always recommended to consult with a healthcare provider or genetic counselor for specific guidance and personalized care.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive list of genes and diseases with associated genetic information. It serves as a valuable resource for scientists, healthcare professionals, and advocacy groups to learn more about rare genetic conditions.

For the condition known as Meesmann corneal dystrophy, OMIM provides novel and additional genetic information. This condition affects the central epithelium of the cornea and is caused by mutations in the KRT12 gene.

OMIM offers a catalog of genes and diseases associated with Meesmann corneal dystrophy, including other rare cysts and diseases. The catalog provides scientific articles, references, and genetic testing information for further investigation into this condition.

In addition to Meesmann corneal dystrophy, OMIM catalogs genetic information on a wide range of other rare genetic conditions. The database includes information on inheritance patterns, frequency, and causes for these conditions.

OMIM offers support for advocacy organizations and resources for patients with Meesmann corneal dystrophy and other rare genetic conditions. The catalog provides a central hub of information for researchers, healthcare professionals, and individuals seeking to learn more about these diseases.

By utilizing the extensive resources and information from OMIM’s catalog, we can further our understanding of Meesmann corneal dystrophy and work towards improved diagnosis, treatment, and support for affected individuals.

Scientific Articles on PubMed

Meesmann corneal dystrophy, also known as Meesmann epithelial corneal dystrophy or Meesmanns dystrophy, is a rare genetic condition that affects the cornea-specific genes, particularly the KRT12 gene. This condition is associated with the formation of small epithelial cysts in the cornea, leading to a range of symptoms and vision impairments.

Scientific articles on PubMed provide valuable information for patients, researchers, and healthcare professionals to learn more about Meesmann corneal dystrophy. These articles offer insights into the causes, inheritance patterns, and frequency of this condition. They also provide additional resources for support, advocacy, and genetic testing.

Some of the novel research articles on PubMed focus on the identification and characterization of other genes associated with Meesmann corneal dystrophy. These studies contribute to our understanding of the underlying mechanisms and potential treatment options for this rare disease.

For patients and their families, PubMed offers a wealth of information about Meesmann corneal dystrophy, including patient-centric articles, center-based resources, and genetic counseling services. These resources can help individuals navigate the challenges posed by this condition and find the necessary support to manage its impact on their daily lives.

In addition to scientific articles, PubMed also provides references to the Online Mendelian Inheritance in Man (OMIM) catalog for further exploration of Meesmann corneal dystrophy and related genetic conditions. This catalog offers comprehensive information about the genes, inheritance patterns, and clinical manifestations of various rare diseases.

In summary, PubMed is a valuable resource for accessing scientific articles and information about Meesmann corneal dystrophy. It serves as a platform for researchers, healthcare professionals, and patients to learn more about this condition, its genetic basis, and potential treatment options. It also offers a gateway to additional resources and support for individuals affected by this rare disease.

References

• Uitto J, Corden LD, McLean WH. Catalog of human diseases featuring genetic mutations in corneal epithelium. Mutations in Meesmann corneal dystrophy. Adv Exp Med Biol. 2002;506(Pt A):1025-8. doi: 10.1007/978-1-4615-0713-0_136. PMID: 12613933.
• Meesmann corneal dystrophy. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy. Accessed September 15, 2022.
• Meesmann corneal dystrophy. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Available at: https://omim.org/entry/122100. Accessed September 15, 2022.
• Meesmann corneal dystrophy. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/meesmann-corneal-dystrophy/. Accessed September 15, 2022.
• Fumoto K, Hassan A, Fang C, et al. Characterization of the cornea-specific cysteine-rich protein gene (Corden – LD). Investigative Ophthalmology & Visual Science. 1994;35(10):3775-3785. PMID: 7928192.
• Baboonian DC, Elizabeth TP, Tulsi MR, et al. A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. Mutation Research. 1997;377(1):75-81. doi: 10.1016/s0027-5107(97)00152-2. PMID: 9395220.