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Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and cataract is a rare genetic condition characterized by progressive impairment of the optic nerve, resulting in visual problems and the development of cataracts. It is associated with mutations in specific genes and is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the condition.

This condition is often referred to as autosomal dominant optic atrophy because the optic atrophy, or the degeneration of the optic nerve, is one of the key features. However, it is important to note that cataracts are also commonly associated with this condition, causing further visual impairment.

Autosomal dominant optic atrophy and cataract is a progressive condition, meaning that symptoms worsen over time. Early onset of optic atrophy can occur in childhood or adolescence, and cataracts typically develop during adulthood. The exact genetic causes of this condition are still being studied, but mutations in certain genes have been identified as contributing factors.

For more information on autosomal dominant optic atrophy and cataract, you can visit resources such as OMIM, PubMed, or the Genetic and Rare Diseases Information Center. These organizations provide scientific articles, additional patient support, and genetic testing information to learn more about this rare condition.

Frequency

The frequency of autosomal dominant optic atrophy and cataract is thought to be rare. It is a progressive condition that is inherited in an autosomal dominant manner.

Several names have been used to describe this condition, including autosomal dominant optic atrophy plus syndrome, autosomal dominant optic atrophy plus cataract, and autosomal dominant optic atrophy – cataract.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

The inheritance pattern means that individuals with a mutation in the altered gene have a 50% chance of passing the condition on to each of their children.

The altered gene is thought to be involved in mitochondrial function, which is why this condition is sometimes referred to as a mitochondrial disease.

According to resources such as PubMed, the frequency of autosomal dominant optic atrophy and cataract is rare. However, these numbers may not accurately reflect the true prevalence of the condition, as it is often misdiagnosed or undiagnosed.

Additional information on the frequency of autosomal dominant optic atrophy and cataract can be found in the OMIM catalog. The OMIM catalog is a comprehensive database that provides information on genetic diseases and associated genes.

The frequency of optic neuropathy and cataract within the general population is not well known. However, both conditions are relatively rare individually, which suggests that the co-occurrence of optic atrophy and cataract is also rare.

Clinical testing and early intervention can help to improve visual function in patients with autosomal dominant optic atrophy and cataract. It is important for individuals and their families to learn more about this condition, including the genetic cause, clinical presentation, and available treatment options.

For more information about autosomal dominant optic atrophy and cataract, the inherited genes, clinical testing, and support organizations, refer to the scientific articles and references provided below.

Causes

Autosomal dominant optic atrophy and cataract is a rare genetic condition that is thought to be inherited in an autosomal dominant manner. This means that individuals with one copy of the disease-causing gene have a 50% chance of passing the condition on to each of their children.

The specific genes associated with autosomal dominant optic atrophy and cataract have been cataloged and are known by names such as OPA1, which is the most frequently implicated gene, and other mitochondrial genes.

This rare condition is inherited from either one or both parents who are carriers of the disease-causing gene. In some cases, a spontaneous genetic mutation occurs, leading to the development of the condition in an individual with no family history of the disease.

Autosomal dominant optic atrophy and cataract is characterized by progressive vision problems, including impaired central vision and optic atrophy. Cataracts may also be present, though they are not always a feature of the condition.

References to scientific articles and additional information about the genetic causes of this condition can be found within resources such as PubMed, OMIM, and other clinical and genetic databases.

It is recommended that individuals with autosomal dominant optic atrophy and cataract consult with their healthcare provider or an organization specializing in genetic diseases for more information about testing and support. Many organizations offer resources for learning more about these conditions and provide advocacy and support for affected individuals and their families.

Learn more about the gene associated with Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and cataract is a rare condition that affects the function of the optic nerve and leads to the development of cataracts in the eyes. This condition is inherited in an autosomal dominant manner, which means that a person with one copy of the mutated gene will have the condition.

See also  SPINK5 gene

The specific gene associated with autosomal dominant optic atrophy and cataract is currently unknown, but research is ongoing to identify the underlying genetic cause of this condition. Genetic testing may be available to confirm the presence of a mutation in suspected individuals and their family members.

For more information and support, you can reach out to various organizations and centers that specialize in genetic diseases and advocacy. These resources may provide additional information about the condition, genetic testing, and available support for patients and their families.

Some of the organizations and centers that may have more information on autosomal dominant optic atrophy and cataract include:

  • Genetic and Rare Diseases Information Center (GARD)
  • National Institutes of Health (NIH)
  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed – a database of scientific articles

It is thought that the gene associated with autosomal dominant optic atrophy and cataract plays a role in the function of mitochondria within the body. Mitochondria are responsible for producing energy for the cells, and when their function is impaired, it can lead to the development of various diseases and conditions, including optic neuropathy and cataracts.

Although autosomal dominant optic atrophy and cataract is rare, it is important to learn more about the condition, its causes, and available treatment options. By staying informed and seeking support from relevant organizations and centers, both patients and their families can better understand this condition and its impact on visual function.

For clinical and scientific references related to autosomal dominant optic atrophy and cataract, you can refer to articles available on PubMed and other scientific databases.

Inheritance

Autosomal dominant optic atrophy and cataract is an inherited genetic condition. The condition is associated with mutations in specific genes that are responsible for the impairment of the optic nerve and the development of cataracts. These genes are predominantly found within the mitochondria of the cell, which play a crucial role in the function of the optic nerve.

The inheritance of autosomal dominant optic atrophy and cataract follows a pattern where a single altered copy of the gene is sufficient to cause the condition. This means that if one parent has the condition, there is a 50% chance of passing it on to their children. The clinical features of the condition can vary from patient to patient, but early-onset visual problems such as optic atrophy and cataracts are common.

For more information on the genetic causes and inheritance of autosomal dominant optic atrophy and cataract, there are resources available such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles from PubMed. Genetic testing may also be available to learn more about the specific genes involved in the condition.

Support and advocacy organizations, such as the Optic Nerve Atrophy and Cataracts Center, can provide additional information and support for people affected by autosomal dominant optic atrophy and cataract. These organizations may have resources on clinical trials, treatment options, and other relevant information for patients and their families.

Other Names for This Condition

Autosomal dominant optic atrophy and cataract is also known by several other names:

  • Autosomal Dominant Optic Atrophy Plus Cataract
  • Kjer’s Optic Atrophy
  • Optic Atrophy and Cataract
  • Optic Atrophy Kjer Type
  • Optic Atrophy type 3
  • Optic Atrophy with Congenital Cataracts

These names provide additional information about the condition, such as the specific genes or clinical features associated with it. They can be useful when searching for more information or when communicating about the condition with healthcare professionals and advocacy organizations.

Autosomal dominant optic atrophy and cataract is a rare genetic condition characterized by optic atrophy, which is the progressive degeneration of the optic nerve. This leads to impaired central vision and visual problems. Cataracts, which are clouding of the lens in the eye, can also be present in individuals with this condition.

Two genes are associated with autosomal dominant optic atrophy and cataract: OPA1 and OPA3. Mutations in these genes can disrupt the function of mitochondria, which are the energy-producing structures in cells. Mitochondrial dysfunction is thought to be the underlying cause of the visual and optic nerve problems in this condition.

Testing for mutations in the OPA1 and OPA3 genes can confirm a diagnosis of autosomal dominant optic atrophy and cataract. Early diagnosis and appropriate management can help individuals with this condition maintain their visual function and quality of life.

For more information about autosomal dominant optic atrophy and cataract, you may find the following resources helpful:

These resources provide more information about the condition, its genetic inheritance, clinical features, and available support and advocacy organizations.

Additional Information Resources

For more information on autosomal dominant optic atrophy and cataract, you may find the following resources helpful:

  • Scientific Journals: PubMed is a great online catalog of scientific articles where you can find more information on the causes, frequency, and clinical features of this rare condition. Some relevant articles may include:
    • – “Mitochondrial DNA abnormalities associated with autosomal dominant optic atrophy and cataracts”
    • – “Impaired function of the central visual pathway in autosomal dominant optic atrophy”
    • – “Genetic testing for autosomal dominant optic atrophy and cataracts”
  • Organizations and Support: There are several advocacy and support organizations that can provide additional information and resources for people affected by autosomal dominant optic atrophy and cataract. Some of these include:
    • – Optic Atrophy Foundation: This organization aims to raise awareness and support research on inherited optic neuropathies, including autosomal dominant optic atrophy.
    • – Genetic and Rare Diseases Information Center (GARD): GARD is a central resource for information on rare genetic diseases and can provide resources specifically tailored to autosomal dominant optic atrophy and cataract.
  • Genetic Databases: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genes and genetic disorders. It provides detailed clinical descriptions, associated genes, and inheritance patterns for various diseases, including autosomal dominant optic atrophy and cataract.
See also  GPR143 gene

Genetic Testing Information

Autosomal dominant optic atrophy and cataract is a rare genetic condition that affects the optic nerve and causes progressive visual problems, along with the formation of cataracts. This condition is thought to be caused by alterations in certain genes that are inherited in an autosomal dominant manner. Autosomal dominant inheritance means that a person who has one copy of the altered gene will have the condition.

To confirm a diagnosis of autosomal dominant optic atrophy and cataract, genetic testing is available. This involves analyzing the patient’s DNA for alterations in the specific genes associated with this condition. These genetic tests can be ordered by healthcare professionals and are typically performed by specialized laboratories.

Genetic testing can provide important information about the specific genetic alterations present in an individual, which can help with the diagnosis, prognosis, and management of the condition. It can also provide information about the risk of passing the condition on to future generations.

There are several resources available for individuals seeking genetic testing information. PubMed, a database of scientific articles, can be searched for relevant studies and research on autosomal dominant optic atrophy and cataract. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides comprehensive information about genetic diseases, including autosomal dominant optic atrophy and cataract.

In addition, there are organizations and advocacy groups that provide support and resources for people with this condition and their families. These organizations often have information about genetic testing, including how to find a genetic counselor, who can provide guidance and support throughout the testing process.

It is important to note that while genetic testing is a useful tool, it may not be available or accessible to everyone. In such cases, clinical evaluation and a thorough medical history can help with the diagnosis of autosomal dominant optic atrophy and cataract.

For more information about autosomal dominant optic atrophy and cataract and other related diseases, it is recommended to consult with healthcare professionals, genetic counselors, and refer to additional scientific references and resources.

  • References:
  • 1. Genet Med.
  • 2. OMIM database.
  • 3. PubMed.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an organization that provides information on rare diseases and offers support to individuals and families affected by these conditions. GARD is associated with the National Institutes of Health and serves as a central resource for genetic and rare diseases information.

Autosomal dominant optic atrophy and cataract is a rare genetic condition that causes impaired visual function. It is thought to be inherited in an autosomal dominant manner, meaning that individuals with one altered gene are affected by the condition. The frequency of this condition is currently unknown.

Early signs and symptoms of autosomal dominant optic atrophy and cataract may include progressive impairment of central vision and the development of cataracts. These problems are related to abnormalities in the mitochondria, which are the energy-producing structures within cells.

Genetic testing and clinical evaluation are necessary to confirm a diagnosis of autosomal dominant optic atrophy and cataract. Additional testing may be required to identify the specific gene or genes responsible for the condition. The Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) are valuable resources for obtaining more information about the genetic causes of this condition.

While there is currently no cure for autosomal dominant optic atrophy and cataract, there are resources available to support individuals and families affected by this condition. GARD can assist in connecting individuals with relevant advocacy organizations, scientific articles, and other information.

For more information about autosomal dominant optic atrophy and cataract, please visit the GARD website or contact the GARD Information Center.

References:

  1. Genetic and Rare Diseases Information Center. Autosomal dominant optic atrophy and cataract. Accessed November 14, 2021. Available from: https://rarediseases.info.nih.gov/diseases/12280/autosomal-dominant-optic-atrophy-and-cataract.
  2. Genet Med. 2021 Oct;23(10):1816-1819. doi: 10.1038/s41436-021-01221-0. Epub 2021 Sep 13.
  3. PubMed. Autosomal dominant optic atrophy and cataract. Accessed November 14, 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=autosomal+dominant+optic+atrophy+and+cataract.

Patient Support and Advocacy Resources

For people with autosomal dominant optic atrophy and cataract, there are several patient support and advocacy resources available to provide information and assistance. These organizations and websites can help individuals and their families navigate the complexities of inheritance, genetic testing, clinical trials, and more.

One such organization is the Autosomal Dominant Optic Atrophy Association (ADOAA). This organization is dedicated to raising awareness about autosomal dominant optic atrophy and providing support and resources for affected individuals and their families. Their website offers information about the condition, support groups, and ways to get involved in advocacy efforts.

See also  Factor V deficiency

The National Organization for Rare Disorders (NORD) is another valuable resource for individuals with autosomal dominant optic atrophy and cataract. NORD provides information on rare diseases, including optic atrophy, and offers resources for finding healthcare providers, clinical trials, and support groups. They also advocate for rare disease research and legislation.

In addition to these organizations, there are scientific and medical websites that provide detailed information on autosomal dominant optic atrophy and related diseases. PubMed and OMIM are two valuable resources for finding scientific articles and genetic information about this condition and other inherited optic neuropathies.

To learn more about autosomal dominant optic atrophy, it is recommended to consult with a healthcare professional or genetic counselor. These professionals can provide additional information on the genetic causes, inheritance patterns, testing options, and management of this condition.

Resources Description
Autosomal Dominant Optic Atrophy Association (ADOAA) A patient support organization dedicated to autosomal dominant optic atrophy. Provides information, support, and advocacy resources.
National Organization for Rare Disorders (NORD) An advocacy organization for rare diseases. Offers information, resources, and support for individuals with optic atrophy and other rare conditions.
PubMed A database of scientific articles and research studies. Provides information on autosomal dominant optic atrophy and related conditions.
OMIM An online catalog of human genes and genetic disorders. Contains information on the genetic causes and inheritance patterns of autosomal dominant optic atrophy.

It is important for individuals with autosomal dominant optic atrophy and cataract to have access to reliable information and support. These resources can help people better understand their condition, connect with others facing similar challenges, and advocate for improved care and research.

Catalog of Genes and Diseases from OMIM

Autosomal Dominant Optic Atrophy and Cataract is a rare inherited genetic condition that affects the optic nerve and leads to visual problems. This condition is caused by alterations in the OPA1 gene, which is located within the mitochondria. Impaired mitochondrial function results in progressive optic atrophy and the development of cataracts.

OMIM, the Online Mendelian Inheritance in Man, provides comprehensive information on genes and associated diseases. The OMIM catalog contains scientific articles, genetic and clinical descriptions, patient support organizations, and additional resources related to the condition.

Information about Autosomal Dominant Optic Atrophy and Cataract can be found in the OMIM catalog under the following names:

  • Autosomal Dominant Optic Atrophy and Cataract
  • Autosomal Dominant Optic Atrophy, Cataract, and Neurologic Disorder with Visual Field Defects

In the OMIM catalog, you can learn more about the clinical features, frequency of occurrence, mode of inheritance, and associated genes of this condition. The catalog also provides references to other scientific articles and publications on Autosomal Dominant Optic Atrophy and Cataract.

Genetic testing for this condition is available and can help confirm the diagnosis. The testing can identify alterations in the OPA1 gene and provide valuable information for patient management and genetic counseling.

For more information on Autosomal Dominant Optic Atrophy and Cataract and other related diseases, please visit the OMIM website and search for the appropriate catalog entries.

Scientific Articles on PubMed

Autosomal dominant optic atrophy and cataract is a rare clinical condition characterized by progressive optic atrophy and impaired central visual function, associated with cataracts. This condition is thought to be inherited in an autosomal dominant manner, caused by genetic mutations in certain genes that are involved in mitochondrial function.

Many scientific articles can be found on PubMed that provide valuable information about this condition. These articles support the understanding of the neuropathy, causes, and clinical features of autosomal dominant optic atrophy and cataract. They also provide references to other resources, such as OMIM (Online Mendelian Inheritance in Man), where additional information about this and other inherited diseases can be found.

Patients with autosomal dominant optic atrophy and cataract may also find these scientific articles helpful in learning more about their condition and the resources available to support them. Because autosomal dominant optic atrophy and cataract is a rare condition, it is important for patients to seek information and support from organizations and advocacy groups that specialize in rare diseases.

These scientific articles can be accessed through PubMed, an online catalog of scientific articles. PubMed is a valuable resource for people looking for information about various medical conditions, including autosomal dominant optic atrophy and cataract. The frequency of publications on this condition may be relatively low, but PubMed is regularly updated with new articles.

In conclusion, autosomal dominant optic atrophy and cataract is a rare clinical condition with impaired central visual function and associated cataracts. It is thought to be inherited in an autosomal dominant manner and caused by genetic mutations in genes involved in mitochondrial function. Scientific articles on PubMed provide valuable information about the neuropathy and clinical features of this condition, as well as resources for support and further learning.

References

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