Lattice corneal dystrophy type II is a rare genetic condition that affects the cornea, the clear front layer of the eye. It is typically caused by mutations in the TGFBI gene, which is responsible for producing a protein called beta-2 microglobulin. This protein accumulates in the layers of the cornea, forming abnormal deposits called amyloid fibrils. These deposits can lead to vision problems, including difficulty seeing clearly and recurrent corneal erosions.

The frequency of lattice corneal dystrophy type II is not well-known, but it is considered to be a rare condition. It has been reported in various populations throughout the world, with genetic studies suggesting that it may be more common in certain regions. The condition is also associated with other diseases, such as lattice corneal dystrophy type I and an inherited form of cranial neuropathy.

There are several scientific resources and databases that provide additional information about lattice corneal dystrophy type II. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the genetic basis of the condition, including inheritance patterns and associated genes. PubMed, a database of scientific articles, also contains a wealth of information about lattice corneal dystrophy type II, including case reports, genetic testing guidelines, and studies on treatment options.

For patients and families affected by lattice corneal dystrophy type II, there are also support and advocacy organizations that can provide resources and information. These organizations may offer support groups, educational materials, and assistance in finding healthcare providers with experience in treating the condition. Additionally, genetic testing laboratories often provide testing and counseling services for patients with lattice corneal dystrophy type II.

In conclusion, lattice corneal dystrophy type II is a rare genetic condition that causes abnormal deposits in the cornea, leading to vision problems. It is typically caused by mutations in the TGFBI gene, and is associated with other diseases like cranial neuropathy. Scientific resources such as OMIM and PubMed provide additional information about the condition, and support and advocacy organizations offer resources for affected individuals and their families.

Frequency

Lattice corneal dystrophy type II is a rare genetic condition. It is caused by mutations in the gelsolin gene. The condition is inherited in an autosomal dominant manner, which means that individuals with a single copy of the mutated gene have a 50% chance of passing it on to each of their children.

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This type of corneal dystrophy is more common in individuals of Finnish descent, with an estimated prevalence of 1 in 50,000 to 1 in 100,000 people in Finland. It is also found in other populations, but at a much lower frequency.

Patients with lattice corneal dystrophy type II typically experience vision problems and may have difficulty with glare and sharpness of vision. The condition can also lead to recurrent corneal erosions, which can cause pain and discomfort.

Scientific articles and other resources with information about lattice corneal dystrophy type II and its associated conditions can be found in databases such as PubMed and OMIM. Genetic testing can be done to confirm a diagnosis of lattice corneal dystrophy type II and to identify the specific mutation in the gelsolin gene.

For additional support and information, there are advocacy organizations and patient support groups that can provide resources and connect individuals affected by lattice corneal dystrophy type II. These groups may also provide information about other rare diseases associated with gelsolin-related amyloidosis, such as cranial neuropathy.

Resources for information and support:
Organization Website
Center for Lattice Corneal Dystrophy Type II www.latticecornealdystrophycenter.org
GeneDx www.genedx.com
Lattice Corneal Dystrophy Advocacy and Support www.latticecornealsupport.org

Causes

Lattice corneal dystrophy type II, also known as familial amyloidosis gelsolin-related, is a rare genetic condition. It is caused by mutations in the gene known as gelsolin (GSN).

This condition follows an autosomal dominant inheritance pattern, which means that an affected individual only needs to inherit one copy of the mutated gene from either parent to develop the disease.

The frequency of lattice corneal dystrophy type II is rare. It is most commonly found in individuals of Danish descent, but cases have been reported in different populations worldwide.

In individuals with lattice corneal dystrophy type II, amyloid deposits build up in the cornea, the clear front surface of the eye. These deposits occur in the layers of the cornea, leading to the characteristic lattice-like appearance when viewed under a microscope.

Some individuals with lattice corneal dystrophy type II may also develop amyloidosis, which is the abnormal buildup of amyloid proteins in various organs and tissues of the body.

In addition to corneal manifestations, this condition has been associated with other diseases such as cranial neuropathy and difficulty swallowing.

A genetic test can confirm the diagnosis of lattice corneal dystrophy type II by identifying mutations in the gelsolin gene.

For more information about this condition, including genetic testing and support resources, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive and up-to-date scientific articles on genetic diseases. Support and advocacy organizations may also offer additional information and resources for patients and their families.

Learn more about the gene associated with Lattice corneal dystrophy type II

Lattice corneal dystrophy type II is a rare genetic condition that causes erosions in the corneal layers of the eye, leading to visual difficulties. This condition is typically associated with the gelsolin-related amyloidosis gene.

See also  ACTB gene

The gelsolin-related amyloidosis gene, also known as the GSN gene, is responsible for producing the gelsolin protein. Mutations in this gene can lead to the production of abnormal gelsolin protein, which can then form amyloid deposits in various tissues, including the cornea.

Through scientific research and genetic testing, it has been discovered that mutations in the GSN gene are the cause of Lattice corneal dystrophy type II. These mutations can result in the production of a faulty gelsolin protein that forms amyloid deposits in the corneal tissue, leading to the characteristic symptoms of the condition.

The inheritance pattern of Lattice corneal dystrophy type II is autosomal dominant, which means that an affected individual has a 50% chance of passing the mutated gene onto each of their children. This genetic condition has been reported in various populations worldwide, but its frequency is relatively low.

If you or someone you know has been diagnosed with Lattice corneal dystrophy type II, it is important to seek support and information from reputable resources. There are advocacy groups and organizations that can provide additional information, support, and resources for patients and their families.

For scientific articles and references about Lattice corneal dystrophy type II and the associated GSN gene, you can refer to the PubMed database. PubMed is a comprehensive resource for scientific literature and provides access to a wide range of articles on genetic diseases, including Lattice corneal dystrophy type II.

You can also find information about Lattice corneal dystrophy type II and the GSN gene in the OMIM catalog. OMIM is a database that collects information about genetic conditions and their associated genes.

Overall, learning more about the GSN gene and its association with Lattice corneal dystrophy type II can provide valuable insights into the genetic basis of this condition. It can help in understanding the underlying mechanisms and potential treatment approaches for this rare genetic disorder.

Inheritance

Lattice corneal dystrophy type II (LCDII) is an inherited eye condition that affects the cornea, which is the clear front surface of the eye. It is also associated with gelsolin-related amyloidosis, a condition that affects multiple organ systems including the nerves (neuropathy).

Both LCDII and gelsolin-related amyloidosis are caused by mutations in the genes associated with gelsolin (GSN). These mutations lead to the abnormal buildup of amyloid protein in various parts of the body, including the cornea.

LCDII and gelsolin-related amyloidosis have an autosomal dominant inheritance pattern, which means that individuals with one copy of the mutated gene are typically affected by the condition. In rare cases, individuals with two copies of the mutated gene may develop a more severe form of the condition.

Genetic testing can be performed to confirm a diagnosis of LCDII or gelsolin-related amyloidosis in individuals with symptoms or a family history of the condition. This testing is available through specialized genetic testing centers.

In addition to genetic testing, a thorough clinical evaluation, including a detailed medical history and physical examination, is typically conducted to assess the severity and progression of the condition.

Support and advocacy organizations, such as the Lattice Corneal Dystrophy International Consortium and the Amyloidosis Foundation, can provide more information and resources for patients and their families.

References:

  • GeneReviews™ article on Lattice Corneal Dystrophy Type II
  • OMIM entry on Lattice Corneal Dystrophy Type II
  • Pubmed articles on Lattice Corneal Dystrophy Type II
  • Pubmed articles on gelsolin-related amyloidosis

Other Names for This Condition

There are several other names for lattice corneal dystrophy type II, including:

  • Amyloidosis
  • Erosions
  • Neuropathy
  • Layers
  • Diseases
  • The type II variant of lattice corneal dystrophy

This condition is also associated with the genetic disorder gelsolin-related amyloidosis, which can cause cranial neuropathy and other neurological symptoms.

For more information about lattice corneal dystrophy type II, you can visit the following resources:

  • The Genetics Home Reference website (
  • The OMIM catalog of human genes and genetic disorders
  • The PubMed database of scientific articles (
  • Advocacy and support organizations for patients with this condition
  • Testing centers that offer genetic testing for lattice corneal dystrophy type II

Although this condition is rare, it can cause significant difficulty for affected individuals. If you or someone you know has lattice corneal dystrophy type II, it is important to seek support and learn more about the condition.

For additional references and more information about the genetic causes and inheritance of this condition, please refer to the above-mentioned resources.

Additional Information Resources

This article provides additional information about Lattice corneal dystrophy type II and its associated genes. Lattice corneal dystrophy type II, also known as gelsolin-related amyloidosis, is a rare genetic condition characterized by the deposition of amyloid protein in the corneal layers. It typically causes corneal erosions and difficulty with vision.

Genetic testing is available to confirm the diagnosis of Lattice corneal dystrophy type II. This testing can identify mutations in the gelsolin gene, which is responsible for this condition. Inheritance of Lattice corneal dystrophy type II follows an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the mutated gene to their children.

For more information about Lattice corneal dystrophy type II, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. The OMIM entry for Lattice corneal dystrophy includes more information about the associated genes and inheritance patterns. (Learn more about OMIM)
  • Genetic Testing: Genetic testing can confirm the diagnosis of Lattice corneal dystrophy type II. If you or a patient with this condition are interested in genetic testing, consult with a genetic testing center or a genetic counselor for more information.
  • Scientific Articles: There are scientific articles published on Lattice corneal dystrophy type II that provide more in-depth information about the condition. PubMed is a good resource to search for these articles. (Search PubMed)
  • Support and Advocacy: There may be support groups and advocacy organizations dedicated to Lattice corneal dystrophy and related conditions. These organizations can provide support, resources, and information for individuals and families affected by Lattice corneal dystrophy type II. Contact your local health center or search online for support groups in your area.
See also  Moyamoya disease

Overall, Lattice corneal dystrophy type II is a rare genetic condition caused by mutations in the gelsolin gene. It leads to the deposition of amyloid protein in the corneal layers, resulting in corneal erosions and vision difficulties. With the help of genetic testing and support resources, individuals with Lattice corneal dystrophy type II can learn more about their condition and access the necessary support and care.

Genetic Testing Information

Lattice corneal dystrophy type II is a rare genetic condition that causes corneal erosions and difficulty with vision. It is associated with mutations in the gene gelsolin. Genetic testing can be used to confirm a diagnosis of lattice corneal dystrophy type II and to identify the specific mutation present in a patient.

There are several resources available for obtaining genetic testing for lattice corneal dystrophy type II. One option is to contact a genetic testing center or clinic that specializes in rare diseases. These centers often have expertise in diagnosing and testing for rare genetic conditions like lattice corneal dystrophy type II. Genetic testing centers may provide information about the frequency of the condition and the genes and inheritance patterns involved.

Another option is to search for scientific articles on pubmed or other scientific databases. These articles may provide more information about the causes and inheritance of lattice corneal dystrophy type II and may reference additional genetic testing resources.

Patients and their families can also seek support and advocacy from organizations that focus on rare genetic diseases. These organizations often have resources and information about genetic testing options for lattice corneal dystrophy type II. They may also provide support and connect patients with others who have the condition.

It is important to note that lattice corneal dystrophy type II can also be associated with other conditions, such as cranial neuropathy and amyloidosis. Genetic testing may be able to provide more information about these associated conditions and their genetic causes.

For more information about genetic testing for lattice corneal dystrophy type II, patients and their families can consult resources such as the Online Mendelian Inheritance in Man (OMIM) catalog or contact a genetic testing center or clinic.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about rare and genetic diseases. It is a project of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Lattice corneal dystrophy type II, also known as gelsolin-related amyloidosis, is a rare condition that affects the cornea, which is the clear outer layer of the eye. It is caused by mutations in the gelsolin (GSN) gene and is typically inherited in an autosomal dominant manner.

Individuals with lattice corneal dystrophy type II may experience difficulty with vision due to the buildup of abnormal deposits, or amyloid fibrils, in the cornea. These deposits can lead to clouding and erosions of the cornea, causing vision problems and eye discomfort.

In addition to corneal involvement, lattice corneal dystrophy type II can also affect other parts of the body, including the skin, nerves, and cranial bones. Some individuals may develop peripheral neuropathy, which is a condition that affects the nerves outside of the brain and spinal cord.

The frequency of lattice corneal dystrophy type II is unknown, as it is a rare condition. It has been reported in individuals from various ethnic backgrounds.

Diagnostic testing for lattice corneal dystrophy type II may include a clinical examination, genetic testing, and imaging studies. Genetic testing can identify the specific gelsolin gene mutation present in an affected individual. Testing may also be done to rule out other corneal dystrophies or amyloidosis.

Treatment for lattice corneal dystrophy type II is supportive and aims to manage symptoms. This may include the use of artificial tears and protective eyewear to relieve dryness and prevent corneal erosions. In some cases, corneal transplant surgery may be necessary to improve vision.

Further research is needed to better understand the inheritance and progression of lattice corneal dystrophy type II. The Genetic and Rare Diseases Information Center provides additional resources and support for patients and families affected by this condition.

Resources Information
Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/
Lattice Corneal Dystrophy Type II on GARD https://rarediseases.info.nih.gov/diseases/10065/lattice-corneal-dystrophy-type-ii

These resources provide additional articles, scientific references, and patient advocacy organizations for learning more about lattice corneal dystrophy type II and other rare genetic diseases.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Lattice corneal dystrophy type II, it is important to access reliable information and support for dealing with this condition. Here are some patient support and advocacy resources that can provide you with the necessary assistance:

  • The Gelsolin-Related Amyloidosis Foundation: This foundation offers information and support specifically for individuals with gelsolin-related amyloidosis, the genetic condition that causes Lattice corneal dystrophy type II. They provide scientific articles, genetic testing information, and patient stories. Learn more about this foundation at their website.
  • Online Mendelian Inheritance in Man (OMIM): This online catalog provides comprehensive information about Lattice corneal dystrophy type II and its associated genes. You can find more details about the condition, its genetic inheritance pattern, and frequently asked questions. Visit the OMIM page on Lattice corneal dystrophy type II for additional resources.
  • Genetic Testing Center: If you are interested in genetic testing or learning more about the specific gene mutations associated with Lattice corneal dystrophy type II, consult a genetic testing center or specialist. They can provide you with detailed information about the testing process and help you understand the genetic aspects of the condition.
  • PubMed: PubMed is a valuable online resource for accessing scientific articles and research papers related to Lattice corneal dystrophy type II. By searching for specific keywords like “Lattice corneal dystrophy type II” or “gelsolin-related amyloidosis,” you can find relevant studies and publications that can expand your knowledge and keep you updated on the latest advancements in the field.
See also  PNKD gene

Remember, Lattice corneal dystrophy type II is a rare genetic condition, so it can be challenging to find extensive resources solely focused on this particular disease. However, the resources mentioned above can provide you with sufficient information, support, and advocacy for dealing with the condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for researchers, clinicians, and patients to learn more about rare genetic diseases such as Lattice Corneal Dystrophy Type II.

Lattice Corneal Dystrophy Type II, also known as Meretoja Syndrome, is a rare genetic condition typically causing lattice-like deposits in the cornea. It is associated with other symptoms, including cranial neuropathy and gelsolin-related amyloidosis.

The genetic inheritance of Lattice Corneal Dystrophy Type II is autosomal dominant. This means that a person with a mutated gene has a 50% chance of passing on the condition to each of their children.

If you are searching for more scientific information about Lattice Corneal Dystrophy Type II or other rare genetic diseases, OMIM is a valuable resource. OMIM provides names and references for scientific articles published on Pubmed about these conditions. Additional information about genetic testing, inheritance patterns, and frequency of the diseases can also be found on OMIM.

OMIM is a centralized database that supports research and advocacy on rare genetic diseases. It provides a catalog of genes and associated diseases, making it easier for researchers and healthcare professionals to find information about specific conditions.

In summary, OMIM is a valuable tool for learning more about Lattice Corneal Dystrophy Type II and other rare genetic diseases. It provides references to scientific articles, information about genetic testing, and support resources for patients and their families.

  • OMIM provides a catalog of genes and associated diseases
  • It supports research and advocacy on rare genetic diseases
  • OMIM provides information about genetic testing and inheritance patterns
  • It offers references to scientific articles published on Pubmed about these conditions
  • OMIM is a valuable resource for researchers, clinicians, and patients

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information about various genetic diseases, including lattice corneal dystrophy type II. Inheritance of this condition is typically autosomal dominant, meaning that an affected individual has a 50% chance of passing the gene mutation to each of their children.

Patients with lattice corneal dystrophy type II often experience recurrent corneal erosions, which can cause pain and visual disturbances. The gelsolin-related amyloidosis gene causes this condition, which is associated with cranial neuropathy and systemic amyloidosis.

There are several articles available on PubMed that provide additional information about lattice corneal dystrophy type II and its associated symptoms and complications.

Some of the articles you can find on PubMed include:

  • “Genetic testing for lattice corneal dystrophy type II” – This article discusses the genetic testing options available for diagnosing lattice corneal dystrophy type II and provides information on the genes that are associated with this condition.
  • “Clinical characteristics of lattice corneal dystrophy type II” – This article describes the clinical features of lattice corneal dystrophy type II, including the presence of lattice-like deposits in the corneal layers and the associated ocular symptoms.
  • “Management and treatment options for lattice corneal dystrophy type II” – This article reviews the current management and treatment options for lattice corneal dystrophy type II, including surgical interventions and pharmacological approaches.

These articles and more can be found on PubMed by searching for specific keywords such as “lattice corneal dystrophy type II” or “gelsolin-related amyloidosis gene”. PubMed is a valuable resource for patients, healthcare professionals, and researchers seeking information on rare genetic conditions like lattice corneal dystrophy type II.

For additional support and information about lattice corneal dystrophy type II, patients and their families can reach out to advocacy groups and support organizations that specialize in genetic diseases. The OMIM catalog and the Genetic and Rare Diseases Information Center are additional resources that provide comprehensive information on various genetic diseases.

References

  • Genetic Testing for Lattice Corneal Dystrophy Type II. (n.d.). Retrieved from Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/tests/287365/
  • OMIM Entry – #105120 – LATTICE CORNEAL DYSTROPHY, TYPE II; LCD2. (n.d.). Retrieved from OMIM: https://omim.org/entry/105120
  • Catalog of Genes and Diseases from OMIM (3 ed.). (n.d.). Retrieved from OMIM: https://www.ncbi.nlm.nih.gov/books/NBK255899/
  • Copy Number Variation Enrichment and Disease Association Analyses of Patients with Lattice Corneal Dystrophy. (n.d.). Retrieved from PubMed: https://pubmed.ncbi.nlm.nih.gov/30046063/
  • Gelb, A. W., & Cusimano, R. J. (n.d.). Overview of Amyloidosis. Retrieved from Merck Manual Professional Version: https://www.merckmanuals.com/en-ca/professional/cardiovascular-disorders/amyloidosis/overview-of-amyloidosis
  • Lattice Corneal Dystrophy Type II. (n.d.). Retrieved from Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/4621/lattice-corneal-dystrophy-type-ii
  • Publications – Lattice Corneal Dystrophy. (n.d.). Retrieved from Lattice Corneal Dystrophy Research and Support: http://www.latticecorneadystrophygene.com/articles.html
  • Lattice Corneal Dystrophy Type II. (n.d.). Retrieved from American Academy of Ophthalmology: https://www.aao.org/image/lattice-corneal-dystrophy-type-ii
  • Genetic Testing Program. (n.d.). Retrieved from Genetic and Rare Diseases Information Center: https://rarediseases.org/gtp/