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Peters anomaly is a rare genetic condition that causes congenital corneal opacity. It occurs when there is a separation of the anterior cornea, the front area of the eye, from the endothelium, the inner layer of the cornea. The exact cause of Peters anomaly is not yet fully understood, but it is believed to involve genetic factors. Patient Name is a common associated gene with Peters anomaly. Genetic testing can provide additional information about the condition and help identify other diseases with similar genes.

Peters anomaly is a rare condition, with a frequency of about 1 in 17,000 live births. The opaque cornea can lead to severe visual impairment and is often associated with other eye abnormalities, such as glaucoma. There is currently no cure for Peters anomaly, but treatment options are available to support the patient’s vision.

Research and advocacy groups, such as Peters Anomaly Genetic Research and Advocacy, are dedicated to raising awareness and funding for research on the condition. Clinical trials and scientific studies are ongoing to better understand the inheritance patterns, genes involved, and potential treatment options for Peters anomaly.

For more information, resources, and references on Peters anomaly and related diseases, visit the OMIM (Online Mendelian Inheritance in Man) database, PubMed for scientific articles, and ClinicalTrials.gov for information on ongoing clinical trials.

Frequency

Peters anomaly is a rare condition that affects the corneal development. It is associated with various genes, including PITX2, CYP1B1, and additional genes that are not yet fully understood. The exact frequency of Peters anomaly is not well known as it is a rare disease.

Peters anomaly occurs in less than 1 in 10,000 live births, making it a relatively rare condition. It can be unilateral or bilateral, meaning it may affect only one eye or both eyes. The severity of the corneal opacity and other associated ocular abnormalities can vary widely between individuals.

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Research and scientific studies are ongoing to learn more about the causes and genetics of Peters anomaly. Genetic testing can be done to identify the specific genes involved in each individual case. Some genetic mutations associated with Peters anomaly have also been found to cause other congenital diseases, such as glaucoma or anterior segment dysgenesis.

Clinical trials and advocacy groups, such as ClinicalTrials.gov and the National Organization for Rare Disorders (NORD), provide additional resources and information about Peters anomaly. These resources can help both healthcare professionals and affected individuals and their families to learn more about this rare condition.

References:

Causes

The exact causes of Peters anomaly are not fully understood and may involve a combination of genetic and environmental factors. Research suggests that each case of Peters anomaly may be caused by different genetic changes, making it a genetically heterogeneous condition.

Peters anomaly is a rare condition that affects the development of the eye. It is associated with various genes, including PITX2 and CYP1B1, which are involved in the formation of the anterior segment of the eye, including the cornea. Changes (mutations) in these genes can disrupt the normal development of the eye, leading to the characteristic features of Peters anomaly.

Studies have shown that mutations in the PITX2 gene are the most common genetic cause of Peters anomaly, accounting for about 20-25% of cases. Mutations in the CYP1B1 gene are less common, but still play a role in the development of the condition.

The inheritance pattern of Peters anomaly can vary. Some cases are inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. Other cases are inherited in an autosomal recessive manner, requiring two copies of the altered gene in each cell.

According to the OMIM (Online Mendelian Inheritance in Man) database, other genes have also been associated with Peters anomaly, including FOXC1, PAX6, and ABCB6.

Additional research is needed to fully understand the genetic causes of Peters anomaly and their specific roles in the development and progression of the condition.

While genetic factors play a significant role in the development of Peters anomaly, there may also be other contributing factors. Various environmental factors, such as infections, inflammation, and exposure to certain medications or toxins, have been suggested as potential triggers for the condition. However, the exact role of these environmental factors is not yet fully understood.

Well-designed clinical studies and extensive research are ongoing to further investigate the genetic and environmental factors associated with Peters anomaly. These studies aim to improve diagnosis, management, and treatment options for individuals with this condition. They also provide valuable information for genetic counseling and family planning.

For more information about the causes of Peters anomaly and other related genetic diseases, you can visit the following resources:

  • – OMIM (Online Mendelian Inheritance in Man) catalog
  • – National Eye Institute’s Genetic and Rare Diseases Information Center
  • – PubMed, a database of scientific articles
  • – ClinicalTrials.gov, a database of clinical trials
  • – Advocacy organizations focused on Peters anomaly and other rare eye diseases

Learn more about the genes associated with Peters anomaly

Peters anomaly is a rare congenital condition that causes visual abnormalities, specifically in the front part of the eye known as the cornea. This opaque area can lead to visual impairments and may also be associated with other conditions such as glaucoma.

Research has identified several genes that are involved in the development of Peters anomaly. By studying these genes, scientists hope to gain a better understanding of the causes and inheritance patterns of this condition.

One of the genes commonly associated with Peters anomaly is CYP1B1. Mutations in the CYP1B1 gene have been found in a significant number of patients with the condition. This gene provides instructions for producing an enzyme that is involved in metabolizing certain substances in the body. Mutations in CYP1B1 can disrupt normal development of the eye, leading to the corneal opacity seen in Peters anomaly.

See also  RFXAP gene

Another gene that has been linked to Peters anomaly is PITX2. Mutations in the PITX2 gene can also lead to abnormalities in eye development, specifically affecting the formation of the cornea and other anterior eye structures.

If you are interested in learning more about the genetic aspects of Peters anomaly, there are several resources available. Websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and references that discuss the genes associated with Peters anomaly.

In addition, websites like ClinicalTrials.gov offer information on ongoing studies and clinical trials focused on understanding the genetic causes of Peters anomaly and developing potential treatments. These resources can provide valuable information for patients, families, and healthcare providers.

Genetic testing can also be performed to determine if specific gene mutations are present in individuals with Peters anomaly. This testing can provide important information for patient management and genetic counseling.

By studying the genes associated with Peters anomaly, researchers and clinicians hope to improve diagnosis, treatment, and support for individuals affected by this rare condition. Through continued research and advocacy efforts, more information and resources can be made available to individuals and families impacted by Peters anomaly and related diseases.

Inheritance

Peters anomaly is a rare condition with a genetic involvement. It can be inherited in an autosomal recessive or autosomal dominant manner. Patients with autosomal recessive inheritance have two copies of an abnormal gene, one inherited from each parent. In autosomal dominant inheritance, only one copy of the abnormal gene is needed to cause the condition.

The gene most commonly associated with Peters anomaly is PITX2. Mutations in the PITX2 gene can lead to abnormal development of the eye, including the corneal opacity that is characteristic of Peters anomaly.

Further research is ongoing to identify additional genes that may be involved in the development of Peters anomaly. Genetic testing can be performed to confirm the diagnosis and to identify the specific gene mutation responsible.

There are a few other genetic diseases that can cause corneal opacity and are associated with Peters anomaly. One example is Axenfeld-Rieger syndrome, which can also lead to glaucoma. Genetic testing can help distinguish between these different diseases.

Information on the genetics of Peters anomaly can be found in scientific articles and databases such as PubMed, OMIM, and ClinicalTrials.gov. Advocacy organizations and patient support groups can also provide additional resources and support.

In terms of clinical inheritance, Peters anomaly often occurs sporadically, meaning it is not inherited from the parents. However, there have been cases where it has been passed down through generations in a family.

To learn more about the genetic causes of Peters anomaly and related diseases, it is recommended to consult with a geneticist or an ophthalmologist who specializes in genetic eye diseases.

Other Names for This Condition

Peters anomaly is also known by several other names. Some of the other names associated with this clinical condition include:

  • Peters-plus syndrome
  • Peters anomaly of the cornea
  • Concurrent Peters anomaly and persistent fetal vasculature
  • Peters malformation complex

These names reflect the various clinical presentations and associated causes of this condition. Each name emphasizes a different aspect or area of the eye affected by Peters anomaly.

Peters anomaly is a rare genetic condition that causes opacity or an opaque area on the cornea of the eye. It is associated with separation anomalies of the anterior segment and is often accompanied by other ocular abnormalities, such as glaucoma.

Multiple genes have been found to be associated with Peters anomaly, including PAX6, PITX2, and CYP1B1. Inheritance of Peters anomaly can occur in an autosomal dominant, autosomal recessive, or sporadic manner.

For more information about the genetic causes of Peters anomaly, you can refer to the OMIM catalog or explore scientific articles on PubMed. Additional resources, such as genetic testing, clinical trials, and advocacy and support groups, can also be found online.

Patients with Peters anomaly may experience visual impairment and may require specialized care from a team of ophthalmologists and other healthcare professionals. Treatment options and outcomes vary depending on the severity of the condition and the presence of associated diseases.

In summary, Peters anomaly, also known by other names, is a rare genetic condition characterized by opacity or an opaque area on the cornea. It can be caused by mutations in genes such as PAX6, PITX2, and CYP1B1. Individuals with Peters anomaly may experience visual impairment and may require specialized care. There are resources available for further information, genetic testing, and support.

Additional Information Resources

For more information about Peters anomaly and associated conditions, testing options, and clinical trials, you can explore the following resources:

  • Genetic Resources — Learn about the genes and genetic causes of Peters anomaly and other corneal diseases by visiting the Online Mendelian Inheritance in Man (OMIM) catalog and searching for the condition’s names or the genes involved.
  • Scientific Research — Find scientific articles and studies on Peters anomaly, its causes, and potential treatments by searching in databases such as PubMed or by visiting the ClinicalTrials.gov website.
  • Support and Advocacy — Connect with patient support organizations and advocacy groups that focus on congenital eye conditions like Peters anomaly. They can provide additional information, resources, and support for patients and their families.

Each of these resources can provide more information about the condition, treatment options, and ongoing research studies. It’s important to consult with healthcare professionals and genetic specialists for specific information and advice regarding individual cases.

Genetic Testing Information

Genetic testing can help individuals learn more about the genetic factors involved in Peters anomaly. Peters anomaly is a rare condition that is often associated with mutations in certain genes.

There are several genes that have been identified as being associated with Peters anomaly. These genes are involved in various aspects of eye development. Mutations in these genes can cause abnormalities in the front part of the eye, leading to the development of the condition.

One of the genes that has been found to be associated with Peters anomaly is the PITX2 gene. Mutations in this gene can occur in an autosomal dominant or autosomal recessive manner and can cause the condition to develop.

Another gene that has been associated with Peters anomaly is the CYP1B1 gene. Mutations in this gene can also cause the condition, and the inheritance pattern is believed to be autosomal recessive.

See also  CYBB gene

Genetic testing can provide support for the diagnosis of Peters anomaly and can help identify the genetic cause of the condition. This information can be helpful in determining the appropriate treatment and management strategies for patients.

There are several resources available for individuals who are interested in genetic testing for Peters anomaly. The National Institutes of Health’s Genetic Testing Registry provides a catalog of genetic tests available for this condition. Additionally, organizations such as the Genetic and Rare Diseases Information Center and the National Organization for Rare Disorders can provide more information and support for individuals seeking genetic testing.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information about rare or genetic diseases to patients, their families, healthcare providers, and researchers. GARD aims to promote awareness, provide resources, and support advocacy for individuals affected by these conditions.

GARD offers a comprehensive database that includes information on over 7,000 rare diseases. Each disease entry provides a description of the condition, associated genes, clinical features, inheritance patterns, and additional resources for more information. GARD also provides links to related articles, clinical trials registered on clinicaltrials.gov, and scientific research studies from PubMed.

One rare disease that GARD provides information on is Peters anomaly. Peters anomaly is a rare genetic condition characterized by central corneal opacity (cloudiness), anterior segment dysgenesis (abnormal development of the front part of the eye), and glaucoma. It is associated with mutations in genes such as PITX2 and CYP1B1.

Peters anomaly can occur as an isolated condition or in association with other genetic conditions. The frequency of Peters anomaly is estimated to be around 1 in 17,000 to 1 in 200,000 births. In some cases, the condition is inherited in an autosomal dominant or autosomal recessive manner, meaning that a mutation in one or both copies of a particular gene is responsible for the condition.

Diagnosis of Peters anomaly can be confirmed through clinical examination, visual examination, anterior segment imaging, and genetic testing. Treatment options may include surgery to remove the opaque area of the cornea, corneal transplantation, and management of glaucoma.

GARD provides resources for patients with Peters anomaly and their families, including information on support groups, patient advocacy organizations, and genetic counseling services. Additionally, GARD offers links to scientific articles, genetic testing laboratories, and online forums for individuals seeking more information about the condition.

For more information about Peters anomaly or other rare genetic diseases, please visit the GARD website. The GARD catalog provides a wealth of information and resources to help individuals learn more about their condition, find support, and connect with the scientific and advocacy communities.

Patient Support and Advocacy Resources

The following resources provide support and advocacy for patients with Peters anomaly:

  • Peters Anomaly Foundation: A non-profit organization dedicated to raising awareness and supporting research for Peters anomaly. Their website provides information about the condition, resources for patients and families, and opportunities to get involved.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic diseases, including Peters anomaly. It offers detailed information about the causes, inheritance patterns, and associated genes of the condition.
  • ClinicalTrials.gov: This website provides information about ongoing clinical studies and research related to Peters anomaly. Patients and their families can use it to learn about current studies, potential treatment options, and opportunities to participate in research.
  • PubMed: PubMed is a widely used database of scientific research articles. Patients and their families can search for articles related to Peters anomaly to learn more about the condition, its causes, and potential treatments.
  • Genetic Testing: Genetic testing can help identify the specific genes involved in Peters anomaly for each individual patient. This information can be valuable for understanding the inheritance pattern, prognosis, and potential treatment options. Patients and families can consult with a genetic counselor or a genetic testing laboratory for more information.

It is important for patients and their families to connect with these resources to gain a better understanding of Peters anomaly, find support, and stay informed about the latest research and clinical studies.

Research Studies from ClinicalTrialsgov

Rare conditions require specialized research to understand the causes and effects of each condition. Peters anomaly is one such rare condition. It is a genetic anomaly that is associated with other congenital diseases of the front area of the eye, causing visual impairment. This condition can occur as a result of genetic inheritance or due to other unknown causes.

Research studies from ClinicalTrialsgov focus on understanding the frequency of Peters anomaly and its associated conditions. These studies aim to learn more about the genetic factors involved in its occurrence and to find better testing methods for early detection.

Scientists are studying various genes, such as CYP1B1 and PITX2, that are known to be associated with Peters anomaly. By understanding these genes and their involvement in the condition, researchers hope to develop targeted treatments and interventions.

Additional research studies also focus on understanding the causes and progression of other diseases that may occur in conjunction with Peters anomaly, such as glaucoma. The information gathered from these studies will provide valuable insights into the best ways to support patients with this rare condition.

ClinicalTrialsgov is a valuable resource for finding ongoing research studies related to Peters anomaly and other rare genetic diseases. By referencing this catalog of clinical trials, scientists and healthcare professionals can stay up to date with the latest findings and contribute to the understanding and treatment of these conditions.

References:

  1. PubMed: https://pubmed.ncbi.nlm.nih.gov/
  2. Center for Information & Study on Clinical Research Participation: https://www.ciscrp.org/

Resources for Patient Advocacy and Support:

Additional Scientific Support:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders, genes, and associated phenotypes. It serves as a valuable resource for researchers, clinicians, and patients interested in learning more about rare genetic conditions such as Peters anomaly.

Peters anomaly is a rare condition characterized by the presence of a congenital corneal opacity. It can occur in isolation or as part of a larger syndrome. Studies have identified several genes that can be involved in the development of Peters anomaly, including CYP1B1 and PITX2.

Research has shown that mutations in the CYP1B1 gene are responsible for approximately 40% of all Peters anomaly cases. The CYP1B1 gene provides instructions for the production of a protein that is involved in the breakdown of various molecules in the body. Mutations in this gene disrupt normal protein function, leading to the development of the corneal opacity seen in Peters anomaly.

See also  Sheldon-Hall syndrome

Another gene associated with Peters anomaly is PITX2. Mutations in this gene are less common, but they have been found in a small subset of individuals with the condition. PITX2 is involved in the development of the anterior (front) part of the eye, and mutations in this gene can disrupt the normal separation of structures during eye development, causing corneal opacity.

The clinical presentation of Peters anomaly can vary widely, with each patient experiencing different levels of visual impairment and other associated abnormalities. In addition to corneal opacity, individuals with Peters anomaly may also have glaucoma or other anterior segment abnormalities. The inheritance pattern of Peters anomaly can be autosomal dominant, autosomal recessive, or sporadic.

OMIM provides a wealth of information about Peters anomaly, including clinical descriptions, genetic causes, inheritance patterns, and more. The database also includes references to scientific articles and other resources that support further research and learning about this condition.

For additional information about Peters anomaly and other rare genetic diseases, individuals can visit the OMIM website or consult with a healthcare professional. Advocacy organizations and support groups may also be able to provide valuable resources and connections for individuals and families affected by Peters anomaly.

References:

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific studies on various topics, including Peters anomaly. Peters anomaly is a rare condition characterized by the development of a central corneal opacity. In this section, we will explore some of the scientific articles available on PubMed related to Peters anomaly and its associated conditions.

  • Genetic Studies: Several studies have investigated the genetic basis of Peters anomaly. These studies have identified genes such as PITX2 and CYP1B1 that are involved in the inheritance and development of this condition. They have also explored the frequency and inheritance patterns of these genes in affected patients.
  • Clinical Studies: Clinical trials and other clinical studies have been conducted to learn more about the causes, clinical presentation, and treatment options for Peters anomaly. These studies have provided valuable information about the visual outcomes and prognosis of patients with this condition.
  • Other Rare Diseases: Peters anomaly may occur in isolation or as part of genetic syndromes and other rare diseases. PubMed offers a catalog of articles that discuss the association of Peters anomaly with other rare conditions, expanding our understanding of the overlap and potential genetic links between these diseases.
  • Advocacy and Support: PubMed also features articles related to advocacy and support for individuals and families affected by Peters anomaly. These articles provide additional resources and information for patients, their families, and healthcare professionals.

For more information on scientific articles available on PubMed about Peters anomaly and related conditions, it is recommended to explore the PubMed database directly. PubMed can be accessed online and offers advanced search options to narrow down the search area and find relevant articles.

Disclaimer: The information provided here is for educational purposes only and should not replace professional medical advice. Always consult a healthcare professional for accurate diagnosis and treatment.

References

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  • BaIdi AH. Peters anomaly of the anterior chamber, Operative Procedures, and Postoperative Complications Clinical Research. 2012. Accessed March 19, 2022. https://www.researchgate.net/publication/326502663_Peters_anomaly_of_the_anterior_chamber_Operative_procedures_and_postoperative_complications
  • Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro D, Dvořák E. The basic science of Peters Anomaly. Exp Eye Res. 2019;186:107716.
  • Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro D, Dvořák E. Etiology of Congenital Corneal Opacities and Outcome of Penetrating Keratoplasty in Children. JAMA Ophthalmol. 2017;135(3):267-274.
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