Fish-eye disease – Austra Health

Fish-eye disease is a rare genetic condition caused by mutations in the LCAT gene. This gene encodes an enzyme called lecithin-cholesterol acyltransferase, which plays a key role in the metabolism of cholesterol. Mutations in the LCAT gene can lead to a decrease in the activity of this enzyme, resulting in the accumulation of cholesterol esters in various tissues of the body.

One of the main features of fish-eye disease is the cloudiness of the cornea, known as corneal opacities. These opacities can affect vision and lead to additional symptoms such as decreased visual acuity and sensitivity to light. The severity of these opacities can vary widely among affected individuals.

Fish-eye disease is inherited in an autosomal recessive manner, which means that individuals need to carry mutations in both copies of the LCAT gene to develop the condition. Individuals who carry only one copy of the mutated gene are typically unaffected, but they have a 50% chance of passing on the mutation to their children.

Diagnosis of fish-eye disease is based on clinical findings, genetic testing of the LCAT gene, and biochemical testing to measure the activity of the lecithin-cholesterol acyltransferase enzyme. Several resources are available for genetic testing, including the OMIM database, which provides information on the genes associated with rare diseases, and PubMed, which provides scientific articles and citation information on genetic diseases.

There is currently no specific treatment for fish-eye disease, but there are resources available for support and advocacy for individuals and families affected by this condition. Genetic counseling can help individuals understand the inheritance pattern and the risk of passing on the mutation to their children. Research on the functions of the LCAT gene and the underlying causes of fish-eye disease is ongoing, with the goal of developing targeted therapies in the future.

Frequency

Fish-eye disease is a rare genetic condition that affects the eyes. The frequency of this disease is very low, with only a few reported cases worldwide. The exact number is not known, as this condition is often underdiagnosed and underreported.

Scientific articles about Fish-eye disease can be found in medical databases such as PubMed and OMIM. These databases catalog various diseases and provide scientific resources for learning about rare conditions.

Genetic testing can support the diagnosis of Fish-eye disease by identifying mutations in the LCAT gene, which is associated with this condition. Mutations in the LCAT gene lead to the abnormal function of the enzyme lecithin-cholesterol acyltransferase, causing the accumulation of cholesterol and opacities in the cornea, leading to cloudiness in the eyes.

Patient advocacy groups and rare disease centers provide support and additional information for individuals with Fish-eye disease and other rare genetic diseases. They offer resources, genetic counseling, and connections to other patients affected by this condition.

It is important to note that Fish-eye disease is inherited in an autosomal recessive pattern, meaning that both parents must carry a mutated LCAT gene for the disease to be passed on to their children.

To learn more about the frequency and characteristics of Fish-eye disease, additional information can be found in scientific articles and references.

Causes

The Fish-eye disease is caused by mutations in the LCAT gene. The LCAT gene provides instructions for making the enzyme lecithin-cholesterol acyltransferase (LCAT), which is responsible for several functions in the body. These functions include removing cholesterol from cells and converting it into a form that can be removed from the body through bile and feces.

More than 30 mutations in the LCAT gene have been identified as causes of the Fish-eye disease. These mutations can lead to the production of a nonfunctional or partially functional version of the LCAT enzyme. As a result, cholesterol and other fats can build up in various tissues and organs, leading to the characteristic cloudiness of the corneas.

The Fish-eye disease is inherited in an autosomal recessive pattern, which means that both copies of the LCAT gene in each cell have mutations. Individuals who carry one copy of the mutated gene do not typically have any signs or symptoms of the condition.

Genetic testing can be used to identify specific LCAT gene mutations associated with Fish-eye disease. This testing can be done before birth or at any time during a person’s life. It is important to note that genetic testing is not available for all cases of Fish-eye disease, as some mutations in the LCAT gene have not yet been identified.

Additional resources for learning about Fish-eye disease and genetic testing are available from several organizations, including advocacy groups and research centers for rare diseases. These resources can provide more information on Fish-eye disease, its symptoms, genetic testing options, and support for patients and their families.

For more scientific information on the causes of Fish-eye disease, consultation of scientific articles and references such as those available on PubMed and OMIM can be helpful.

Learn more about the gene associated with Fish-eye disease

Fish-eye disease is a rare condition that causes cloudiness in the center of the cornea, which can lead to vision problems. It is caused by mutations in the LCAT gene.

The LCAT gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase. This enzyme is essential for the normal processing of cholesterol in the body.

Mutations in the LCAT gene lead to a decrease or absence of functional lecithin-cholesterol acyltransferase. This results in impaired cholesterol metabolism and the accumulation of cholesterol esters in various tissues, including the cornea, leading to the cloudiness seen in Fish-eye disease.

Fish-eye disease is a genetic condition, which means it is inherited from a person’s parents. Inheritance of this condition follows an autosomal recessive pattern, which means that both copies of the LCAT gene in each cell have mutations. Individuals who carry one mutated copy of the gene are called carriers and typically do not show signs or symptoms of the disease.

To learn more about the LCAT gene and Fish-eye disease, you can visit the following resources:

OMIM – A comprehensive catalog of human genes and genetic disorders. You can find information on the LCAT gene and associated diseases by searching for “LCAT” or “Fish-eye disease”. OMIM
PubMed – A database of scientific articles. You can search for articles about the LCAT gene and Fish-eye disease to find more information. PubMed
Genetic Testing Registry – Information about genetic tests for Fish-eye disease and other genetic conditions. Genetic Testing Registry
Genetic and Rare Diseases Information Center – Resources for patients and advocacy groups. They provide information about Fish-eye disease and other rare diseases. Genetic and Rare Diseases Information Center
Additional References – Additional scientific articles and resources that may provide further information about the LCAT gene and Fish-eye disease. Citation needed for additional references.

Inheritance

The Fish-eye disease is an inherited condition caused by mutations in the

References:

OMIM entry: Fish-eye disease
PubMed citation articles about Fish-eye disease

Other Names for This Condition

Fish-eye disease has several other names. It is also known as:

Both fish-eye and Fish-eye dystrophy
OMIM 136120
Catalog of Human Genes and Genetic Disorders
Additional references
Advocacy groups and other support resources for this condition are available to provide information and assistance to affected individuals and their families.
Associated genes and diseases
References to scientific articles about the genes associated with fish-eye disease can be found in PubMed.
Carry a mutation in the LCAT gene
Thrombocytopenia; and cloudiness of the cornea; and rare.

Learn more about fish-eye disease and genetic testing for this condition.

Additional Information Resources

For additional information on Fish-eye Disease, you can refer to the following resources:

The National Organization for Rare Diseases (NORD) – This organization provides free resources, references, and support for rare diseases. They have a catalog of rare disease information, including Fish-eye Disease. You can learn more about their services on their website.
The Genetic and Rare Diseases Information Center (GARD) – GARD provides scientific and advocacy resources for rare diseases. Their website has information about Fish-eye Disease, its associated genes, and inheritance patterns. They also offer genetic testing and support for patients and families affected by this condition.
Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides information on genetic diseases and associated genes. You can search for Fish-eye Disease and learn more about its genetic basis, inheritance, and clinical features.
ClinicalTrials.gov – This website provides information about ongoing clinical trials for various diseases, including Fish-eye Disease. You can search for trials related to this condition and find out if you are eligible to participate.
PubMed – PubMed is a database of scientific articles and publications. You can find research papers and studies related to Fish-eye Disease, its causes, and potential treatments. Use keywords like “Fish-eye Disease” or “Lecithin cholesterol acyltransferase deficiency” to narrow down your search.

These resources can provide you with more information, support, and opportunities to learn about Fish-eye Disease and other related conditions.

Genetic Testing Information

Genetic testing is a crucial tool for understanding both the causes and inheritance patterns of diseases such as Fish-eye disease. If you suspect that you or a patient may carry a rare genetic condition, genetic testing can provide valuable information and support.

Through genetic testing, the patient’s DNA is analyzed to look for mutations in specific genes associated with the disease. In the case of Fish-eye disease, mutations in the LCAT gene, which codes for the enzyme lecithin-cholesterol acyltransferase, can lead to the condition. Testing for mutations in this gene can help confirm a diagnosis.

The frequency of Fish-eye disease is relatively low, but genetic testing can help identify affected individuals and carriers within families. This information is crucial for understanding the inheritance pattern of the disease and for providing appropriate genetic counseling.

Genetic testing can be done through various methods, including sequencing the entire gene or looking for specific mutations. Depending on the specific situation, genetic testing may be available for free through research studies or through a genetic testing center. It’s important to consult with healthcare professionals and genetic counselors to learn more about the available resources and testing options.

In addition to providing important diagnostic information, genetic testing can also contribute to scientific research. The information gathered from genetic testing can help researchers learn more about the disease, its causes, and potential treatment options.

For more information about genetic testing and Fish-eye disease, you can refer to scientific articles and resources from reputable sources. Websites like PubMed and OMIM can provide references and citations for additional reading.

Resources
Genetic testing center Advocacy organizations for Fish-eye disease Scientific articles on PubMed The Online Mendelian Inheritance in Man (OMIM) database Genetic testing catalogs

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a free online resource that provides information on genetic and rare diseases. It is a central hub for patients, families, healthcare providers, and researchers to learn about these conditions.

Through the center’s website, individuals can access information on the causes, inheritance patterns, and frequency of different diseases. It also provides resources to support patients and their families, including advocacy organizations and support groups.

For rare conditions like Fish-eye disease, the center offers information on the genetic basis of the disease. It provides details on the specific genes, such as the acyltransferase gene, that are associated with the condition. In addition, the center lists the names of genes known to affect the functions of this gene.

The Genetic and Rare Diseases Information Center also offers additional resources for those interested in learning more. It provides a catalog of articles and scientific publications on Fish-eye disease, allowing individuals to dive deeper into the topic. Information on genetic testing and available treatment options is also available.

For individuals looking for more comprehensive information, the center provides links to other resources, such as PubMed and OMIM. These databases contain a wealth of information on rare genetic diseases.

Patient Support and Advocacy Resources

For patients, families, and caregivers seeking information and support related to Fish-eye disease, there are several patient support and advocacy resources available:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the frequency of inheritance, associated genes, and clinical features of rare genetic diseases like Fish-eye disease.
Patient Advocacy Organizations: There are several organizations dedicated to supporting individuals with rare genetic diseases. These organizations provide resources, educational materials, and support groups for patients and their families. Examples of such organizations include the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).
Additional Scientific Articles: Scientific articles published in reputable journals can provide more in-depth information about the condition. PubMed is a reliable source for accessing these articles.
Genetic Testing Centers: Genetic testing can help diagnose Fish-eye disease and provide valuable information about its causes and inheritance. Patients can consult genetic testing centers to learn more about the testing process and available options.

These resources can offer both emotional support and practical information to individuals affected by Fish-eye disease. They can help patients navigate the complexities of the condition and connect with others facing similar challenges.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genetic diseases and their associated genes. OMIM provides scientific and clinical information about rare inherited conditions, including Fish-eye disease. Fish-eye disease is caused by mutations in the LCAT gene which affects the function of the Lecithin-Cholesterol Acyltransferase enzyme. This enzyme plays a critical role in cholesterol metabolism.

In Fish-eye disease, the LCAT gene mutation leads to the production of a non-functional or partially functional enzyme. As a result, cholesterol and phospholipids accumulate in various tissues, including the cornea and blood vessels in the eye. This accumulation can cause cloudiness or opacities in the cornea, leading to vision problems in affected individuals.

OMIM provides additional information about the inheritance pattern, clinical features, and genetic testing for Fish-eye disease. The catalog includes the names of other genes associated with similar conditions, such as LCAT deficiency, and provides information on the frequency of these conditions in the general population.

OMIM includes references to scientific articles and citations from PubMed, a free resource for medical literature. These references allow researchers and clinicians to access more information about the disease and stay up-to-date with the latest research.

The OMIM database is a valuable tool for genetic advocacy and support for patients and families affected by rare diseases. It provides information on the genetic basis of these conditions, resources for genetic testing, and links to support groups and advocacy organizations. OMIM aims to improve the understanding and management of rare diseases by providing freely accessible and comprehensive information.

Key Features of the OMIM Catalog:

Comprehensive catalog of genes and diseases
Information on the genetic basis of rare diseases
Scientific and clinical information
Genetic testing resources
Frequency of rare diseases in the general population
References to scientific articles and PubMed citations
Support groups and advocacy organizations

By providing a wealth of information on both genes and diseases, the OMIM catalog serves as an invaluable resource for researchers, clinicians, and individuals seeking to learn more about rare genetic conditions like Fish-eye disease.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various diseases, including Fish-eye disease. By conducting a search on PubMed, you can access a wealth of information about this condition, its causes, genetic inheritance, associated genes, and more.

Fish-eye disease is a rare genetic condition that affects the function of the enzyme lecithin-cholesterol acyltransferase (LCAT). This enzyme is responsible for removing cholesterol from tissues and converting it into a form that can be transported in the blood. In individuals with Fish-eye disease, mutations in the LCAT gene lead to a reduced capability of this enzyme, which results in the accumulation of cholesterol in various tissues, including the cornea.

The main characteristic of Fish-eye disease is the presence of corneal opacities or cloudiness. These opacities can lead to visual impairment and other eye-related symptoms. Fish-eye disease is often associated with other rare diseases, such as familial LCAT deficiency and thrombocytopenia. The frequency of Fish-eye disease in the general population is not well-established, as it is a rare condition.

Scientific articles on PubMed provide valuable information and references for further research on Fish-eye disease. They cover topics such as the genetic causes and inheritance patterns of the disease, the genes associated with Fish-eye disease, additional diseases that can carry similar corneal opacities, and more.

Research articles also discuss the functions of LCAT and its role in cholesterol metabolism, as well as the impact of mutations in the LCAT gene on this process. Genetic testing and counseling are important resources for individuals with Fish-eye disease and their families, and scientific articles can provide guidance and support in this regard.

The National Center for Biotechnology Information (NCBI) provides free access to PubMed, making it an accessible and useful tool for both patients and healthcare professionals. This advocacy for open access to scientific articles ensures that important research and information are available to those who need it most.

Overall, scientific articles on PubMed can help us learn more about Fish-eye disease and other related conditions. They provide valuable insights into the causes, symptoms, genetic inheritance, and management of this rare disease, supporting both patients and healthcare providers in improving patient care and outcomes.

References

Center for Genetic Diseases: This organization provides information about rare genetic conditions. Visit their website for resources and support for patients and their families.
PubMed: A catalog of scientific articles on various diseases. Search for the names of genes and diseases associated with Fish-eye disease to learn more about this condition and its inheritance patterns.
OMIM: The Online Mendelian Inheritance in Man database provides information about the genetic basis of diseases. Look up Fish-eye disease for additional information on the genes that are affected and their functions.
Free genetic testing: Some organizations offer free or low-cost genetic testing for certain diseases. Contact advocacy groups or genetic testing centers to learn more about testing options for Fish-eye disease.
Support and advocacy groups: Joining a support group can provide emotional support and information about Fish-eye disease. Contact advocacy groups dedicated to rare genetic diseases for resources and support.