Lattice corneal dystrophy type I is a rare genetic condition that affects the cornea, the clear outer layer of the eye. It is also known as LCD I or Biber-Haab-Dimmer dystrophy. In this condition, abnormal deposits called lattice lines form in the cornea, leading to vision impairments and erosions on the surface of the eye.

This condition has an autosomal dominant pattern of inheritance, meaning that it can be passed down from one affected parent. A mutation in the TGFBI gene is associated with lattice corneal dystrophy type I. Mutations in this gene cause the abnormal protein to accumulate in the cornea, resulting in the characteristic lattice pattern and other corneal abnormalities.

Additional information on lattice corneal dystrophy type I can be found on various scientific resources. The OMIM catalog, for example, provides detailed information about the condition, including its genetic causes, inheritance patterns, and associated symptoms. PubMed is another valuable resource for finding scientific articles and references on this condition.

Testing for lattice corneal dystrophy type I can be done through genetic testing. This can help confirm the diagnosis and provide additional information about the gene mutation responsible for the condition. Genetic testing can also be important for determining the risk of passing on the condition to future generations.

Support for individuals with lattice corneal dystrophy type I and their families is available through advocacy groups and research centers focused on corneal diseases. These organizations provide resources and information about the condition, treatment options, and support networks. They can also help connect individuals with healthcare professionals who specialize in corneal disorders.

In conclusion, lattice corneal dystrophy type I is a rare genetic condition that affects the cornea of the eye. It is associated with a specific mutation in the TGFBI gene and has an autosomal dominant pattern of inheritance. Further research and genetic testing can provide more information about this condition and support individuals and families affected by it.

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Frequency

Lattice corneal dystrophy type I is a rare genetic disease that affects the cornea of the eye. It is also known by other names such as Biber-Haab-Dimmer dystrophy and Meretoja syndrome. The condition is characterized by the presence of lattice pattern deposits in the cornea, which can cause vision problems and recurrent corneal erosions.

The frequency of lattice corneal dystrophy type I is not well established. It is considered a rare disease, with only a small number of reported cases. According to the OMIM catalog, the condition is caused by mutations in the TGFBI gene. However, it is important to note that not all cases of lattice corneal dystrophy type I are caused by mutations in this gene. There may be other genes or genetic factors associated with the condition that have not yet been identified.

Currently, there is limited information available about the frequency of lattice corneal dystrophy type I. The condition is often diagnosed based on clinical findings, such as the presence of lattice-like deposits in the cornea. Genetic testing may be performed to confirm the diagnosis and identify the specific genetic cause in some cases.

Additional resources and support for patients with lattice corneal dystrophy type I can be found through the Lattice Corneal Dystrophy International Center of Excellence. This center provides information about the condition, genetic testing, and other resources for patients and their families. PubMed and other scientific articles can also provide more information about the frequency of lattice corneal dystrophy type I, as well as other genetic diseases associated with corneal dystrophies.

Causes

Lattice corneal dystrophy type I is a rare genetic condition. It is caused by mutations in the TGFBI gene, which provides instructions for making a protein called keratoepithelin. This protein is found in the clear layers of the cornea, and mutations in the TGFBI gene lead to the production of a defective keratoepithelin protein. As a result, abnormal deposits called amyloid fibrils accumulate in the cornea.

This condition is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the TGFBI gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Lattice corneal dystrophy type I is one of several corneal dystrophies, which are a group of genetic diseases that affect the cornea. These diseases can cause vision problems and the appearance of abnormal deposits in the cornea. Lattice corneal dystrophy type I is characterized by lattice-like deposits in the cornea, which can lead to vision loss and recurrent erosions.

This condition is very rare, with a frequency of less than 1 in 1,000,000 people. It has been well-documented in scientific literature, and more information can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive resource on genetic diseases.

Testing for mutations in the TGFBI gene can confirm a diagnosis of lattice corneal dystrophy type I. Genetic testing may also be recommended for individuals with a family history of the condition.

For more information about lattice corneal dystrophy type I and other genetic diseases, support and advocacy organizations can provide additional resources. Additionally, articles on this topic can be found in the PubMed database, which is a trusted source of scientific literature.

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

Lattice corneal dystrophy type I is a rare genetic condition that affects the cornea, the clear front layers of the eye. This condition is characterized by the presence of abnormal deposits, called lattice lines, in the cornea. These deposits can lead to vision problems and corneal erosions.

Research has shown that lattice corneal dystrophy type I is associated with mutations in the TGFBI gene. This gene provides instructions for making a protein called transforming growth factor beta-induced (TGFBI) protein. Mutations in the TGFBI gene can result in the production of an abnormal TGFBI protein, which leads to the formation of lattice lines and other corneal abnormalities.

If you want to learn more about the gene associated with lattice corneal dystrophy type I, there are several resources available. One of the best places to start is PubMed, a scientific research database. You can search for articles with keywords like “lattice corneal dystrophy” and “TGFBI gene” to find scientific publications on this topic.

Another valuable resource is the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides comprehensive information on genetic diseases, including rare conditions like lattice corneal dystrophy type I. You can search for this condition in the OMIM database to access detailed information on the genetic pattern of inheritance, patient advocacy groups, and additional references.

In addition, the National Institutes of Health (NIH) provides a Genetic and Rare Diseases Information Center, which offers information on rare genetic diseases. You can visit their website to find resources and support for lattice corneal dystrophy type I.

Learning more about the gene associated with lattice corneal dystrophy type I can help you understand the condition better and explore potential treatment options. By accessing scientific articles, genetic databases, and patient advocacy groups, you can find valuable information and support for this rare disease.

Inheritance

Lattice corneal dystrophy type I is a rare genetic condition that affects the cornea, the clear outer layer of the eye. It is associated with the buildup of deposits, known as amyloid, in the corneal layers. These deposits can lead to vision problems, including erosions that cause blurred or cloudy vision.

This condition is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the gene mutation to each of their children. In some cases, the condition is inherited from an affected parent, but in other cases, it may occur sporadically without a family history. Genetic testing can help confirm the diagnosis and identify the specific gene mutation associated with this condition.

There are several genes that have been found to be associated with lattice corneal dystrophy type I, including the TGFBI gene. Mutations in this gene are believed to cause the abnormal protein deposits in the cornea, leading to the characteristic features of the condition.

The frequency of lattice corneal dystrophy type I varies among different populations, but it is generally considered to be a rare condition. The Center for Genetic Advocacy provides resources and information about rare genetic diseases, including lattice corneal dystrophy type I. Additional information can be found in scientific articles and genetic databases such as PubMed and OMIM.

In summary, lattice corneal dystrophy type I is a rare genetic condition that affects the cornea and causes vision problems. It is inherited in an autosomal dominant pattern and is associated with mutations in the TGFBI gene. Genetic testing can provide additional information and support for patients and their families.

Other Names for This Condition

Lattice corneal dystrophy type I is also known by other names:

• Lattice corneal dystrophy type I, gelsolin-related
• Corneal dystrophy, Avellino type
• Corneal dystrophy, lattice type I
• Lattice corneal dystrophy, type I
• American gelsolin amyloidosis
• Gelsolin amyloidosis

This condition is a rare genetic disorder that affects the cornea, the clear front surface of the eye. It is characterized by the lattice-like pattern of deposits that form in the cornea. These deposits are caused by mutations in the gelsolin gene. Lattice corneal dystrophy type I has an autosomal dominant pattern of inheritance, which means one copy of the mutated gene is sufficient to cause the condition.

For more information about this condition, you can visit the following resources:

• The National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center
• The Online Mendelian Inheritance in Man (OMIM) catalog of human genes and genetic disorders
• The PubMed database of scientific articles

These resources provide additional information on the genetic causes, frequency, associated symptoms, and testing options for this condition. They also provide support and advocacy resources for patients and families affected by lattice corneal dystrophy type I.

Additional Information Resources

• OMIM provides information about the scientific names, frequencies, inheritance patterns, and causes of diseases for a variety of genetic conditions. You can learn more about Lattice Corneal Dystrophy Type I on this page: https://www.omim.org/entry/122200.
• The National Advocacy Center for Rare Diseases provides resources and support for patients with rare diseases, including information about Lattice Corneal Dystrophy Type I. You can find more information on their website: https://www.rarediseases.org.
• The Genetics Home Reference from the National Library of Medicine provides an overview of the genetic condition Lattice Corneal Dystrophy Type I, including information about the associated genes and inheritance pattern. You can find more information here.
• PubMed is a database of scientific articles from around the world. You can search for articles about Lattice Corneal Dystrophy Type I to learn more about the condition, its causes, and available treatments. You can access PubMed at: https://pubmed.ncbi.nlm.nih.gov/.
• The Corneal Dystrophy Foundation is another resource that provides information and support for individuals with various corneal dystrophies, including Lattice Corneal Dystrophy Type I. You can find more information on their website: http://www.cornealdystrophyfoundation.org.

These additional resources provide more information on Lattice Corneal Dystrophy Type I, including genetic causes, frequency, and inheritance pattern. They also offer support and advocacy for patients with this rare condition. Visit these resources to learn more about the disease, clear corneal deposits, erosions, vision impairments, and other associated conditions.

Genetic Testing Information

The testing for Lattice corneal dystrophy type I is a rare genetic test that provides important information about the genetic causes and inheritance pattern of this condition. By undergoing genetic testing, patients can learn more about the specific gene mutations associated with their condition and gain a clearer understanding of their genetic makeup.

Genetic testing can also help patients and their families find additional resources, support, and advocacy for rare diseases. The results of genetic testing can be used to guide treatment decisions and provide a better understanding of the patient’s prognosis.

In the case of Lattice corneal dystrophy type I, genetic testing can identify mutations in the TGFBI gene, which is responsible for producing a protein that forms deposits in the cornea. This condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the mutation on to each of their children.

Through scientific research and the study of other genes associated with corneal diseases, genetic testing for Lattice corneal dystrophy type I provides important information that can contribute to a better understanding of the condition and potential treatment options.

To learn more about genetic testing for Lattice corneal dystrophy type I, patients and their families can refer to articles and references available in the research catalog of PubMed. This database provides a wealth of information on genetic conditions and the latest scientific advancements in the field.

For more information and support, patients can also reach out to advocacy organizations and centers specializing in genetic diseases. These resources can provide guidance, educational materials, and connections to other individuals affected by the condition.

In conclusion, genetic testing is a valuable tool for patients with Lattice corneal dystrophy type I to gain insight into their genetic makeup and understand the potential causes and inheritance pattern of their condition. This information can guide treatment decisions, provide support, and contribute to ongoing scientific research in the field of corneal diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about genetic and rare diseases, including lattice corneal dystrophy type I. Lattice corneal dystrophy type I is a condition that affects the clear, outer layers of the cornea, causing vision problems.

This condition is associated with a specific gene mutation called the TGFBI gene. The inheritance pattern of lattice corneal dystrophy type I is autosomal dominant, which means that a person with the mutated gene has a 50% chance of passing it on to their children.

GARD offers resources and support for patients and advocacy organizations that are affected by lattice corneal dystrophy type I. The GARD website provides information about the condition, including information on symptoms, causes, and frequency.

Additional resources that GARD provides include articles published in scientific journals such as PubMed and OMIM, as well as genetic testing resources to help diagnose the condition. GARD also has a catalog of other corneal diseases and the genes associated with them.

To learn more about lattice corneal dystrophy type I, and other corneal diseases, visit the Genetic and Rare Diseases Information Center website.

References:

• “Lattice Corneal Dystrophy Type I.” Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/5422/lattice-corneal-dystrophy-type-i

Patient Support and Advocacy Resources

For patients with lattice corneal dystrophy type I or other rare genetic diseases, there are several patient support and advocacy resources available. These resources provide information about the causes, genetic inheritance pattern, and frequency of the disease, as well as support and additional resources for patients and their families.

One such resource is the Lattice Corneal Dystrophy Network, which provides information and support for patients with lattice corneal dystrophy type I and other related diseases. The network offers articles, scientific references, and clear explanations about the disease and its associated symptoms.

Another resource is the National Center for Advancing Translational Sciences (NCATS), which provides information about rare genetic diseases, including lattice corneal dystrophy type I. The NCATS website offers information on genetic testing, inheritance patterns, and available treatment options for patients with this condition.

The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource for patients and their families. OMIM provides a comprehensive database of genetic disorders and associated genes. Patients can find information about the genes associated with lattice corneal dystrophy type I, as well as references to scientific articles and research studies.

PubMed, a database of scientific articles, provides a wealth of information about lattice corneal dystrophy type I and other rare genetic diseases. Patients can find articles on the genetics, causes, and treatment of the disease, as well as information about ongoing research and clinical trials.

In addition to these resources, there are various patient advocacy organizations that provide support and information for patients with rare genetic diseases, including lattice corneal dystrophy type I. These organizations can help patients connect with others facing similar challenges, learn more about their condition, and access additional resources and support.

Overall, patient support and advocacy resources play a crucial role in providing information, support, and resources for patients with lattice corneal dystrophy type I and other rare genetic diseases. They help patients navigate their condition, understand their genetic inheritance patterns, access genetic testing, and learn about available treatment options. These resources not only provide helpful information but also create a sense of community and support for patients and their families.

Catalog of Genes and Diseases from OMIM

The Center for Human Genetics at the University of Leuven provides a comprehensive catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man). OMIM is a database that collects information about genetic diseases and associated genes.

This catalog is particularly relevant for the study of the rare disease lattice corneal dystrophy type I. This disease affects the cornea, the clear layer at the center of the eye. It is characterized by lattice-like deposits in the cornea, which can cause vision problems and recurrent erosions.

Lattice corneal dystrophy type I is inherited in an autosomal dominant pattern, meaning that a mutation in a single gene can cause the disease. The specific gene associated with this disease is not yet known, but scientists are actively researching to learn more about its causes and inheritance.

For patients and advocates of rare diseases like lattice corneal dystrophy type I, the OMIM catalog offers valuable resources and additional information. It provides a wealth of articles, references, and scientific publications on the topic, as well as information about genetic testing and support groups.

The OMIM catalog also includes information about other genetic diseases and genes associated with them. It helps researchers and healthcare professionals stay informed and up to date on the latest advancements in the field of genetics and rare diseases.

To learn more about lattice corneal dystrophy type I and other rare diseases, visit the OMIM website. There you can find more information about the frequency of the disease, its clinical features, and its genetic basis.

Key Features of Lattice Corneal Dystrophy Type I:

• Lattice-like deposits in the cornea
• Recurrent erosions
• Vision problems
• Inherited in an autosomal dominant pattern

Resources and References:

• OMIM website
• PubMed – for more scientific articles

Scientific Articles on PubMed

Lattice corneal dystrophy type I is a rare genetic condition that affects the cornea, the clear outer layer of the eye. It is associated with deposits called lattice lines that form in the cornea, causing vision problems and frequent erosions.

This condition has been the subject of several scientific articles available on PubMed, a comprehensive catalog of scientific research articles. These articles provide valuable information about the genetic inheritance pattern, testing methods, associated genes, and other causes of lattice corneal dystrophy type I.

One article titled “Genetic Testing for Lattice Corneal Dystrophy Type I” provides information about the frequency of this rare condition and the genetic tests available to diagnose it. Another article, “Lattice Corneal Dystrophy Type I: A Review of the Literature,” discusses the clinical features and treatment options for this condition.

These scientific articles also provide support for patients and advocacy resources for lattice corneal dystrophy type I. They include information about other corneal diseases and genetic disorders that may have similar symptoms or overlap with lattice corneal dystrophy type I.

For more information on lattice corneal dystrophy type I and related genetic diseases, patients and healthcare providers can visit PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional scientific articles, genetic information, and patient advocacy resources.

In summary, lattice corneal dystrophy type I is a rare genetic condition that affects the cornea. Scientific articles on PubMed provide more information about the genetic inheritance pattern, associated genes, testing methods, and treatment options for this condition. These articles also support patients and provide advocacy resources for lattice corneal dystrophy type I and other related corneal diseases.

References

• Aldave, A. J., Yellore, V. S., et al. (2010). Lattice corneal dystrophy type I. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle.
• Genetics Home Reference. Lattice corneal dystrophy type I. Available from: https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i.
• OMIM (Online Mendelian Inheritance in Man). Lattice corneal dystrophy type I. Available from: https://www.omim.org/entry/608471.
• Cornell University Center for Advanced Technology in Biotechnology. Lattice corneal dystrophy type I. Available from: https://cornell.synapseconnect.org/review-browser/article/127.
• PubMed. Lattice corneal dystrophy type I. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Lattice+corneal+dystrophy+type+I.
• The Cornea Society. Lattice corneal dystrophy type I. Available from: https://www.cornea.org/page/Lattice_cornea_dystrop.
• Lattice Corneal Dystrophy, Type I. American Academy of Ophthalmology. Available from: https://www.aao.org/eyenet/article/lattice-corneal-dystrophy-type-i-2.