Coloboma is a rare congenital condition that affects the retina, optic nerve, or other structures at the back of the eye. It is often inherited and can be caused by genetic mutations. Coloboma is characterized by the presence of gaps or completely missing tissue in these areas, resulting in visual loss or other visual impairments.

Coloboma can occur during early fetal development when the optic fissure, a gap in the tissue that forms the eye, fails to close completely. As a result, the affected eye may have a keyhole-shaped opening, resembling a coloboma. This condition can affect one or both eyes, and the severity of the coloboma can vary.

Coloboma is associated with different genetic disorders and diseases, and there are several genes that have been identified as causing coloboma. Some of the known genes associated with coloboma include OMIM, X-linked, and microphthalmia.

Coloboma is a rare condition, and there is limited information available about it. However, there are advocacy and support resources, such as the Gregory-Evans Coloboma Registry and the Patient Information Center, that provide information and support to individuals and families affected by coloboma.

Research and clinical trials are ongoing to better understand the causes and treatment options for coloboma. ClinicalTrials.gov is a valuable resource for finding current clinical trials related to coloboma.

References:

1. Gregory-Evans CY, et al. Genetics of ocular malformations. In: Traboulsi EI, editor. Genetic Diseases of the Eye. New York: Oxford University Press; 2012. p.147-98. PubMed PMID: 22787602.
2. Zenteno JC. Advances in the genetics of congenital eye malformations. Expert Rev Ophthalmol. 2012;7(6):557-70. PubMed PMID: 23341718.
3. Coloboma. OMIM – Online Mendelian Inheritance in Man. Available at: https://www.omim.org/entry/120200. Accessed March 23, 2021.
4. ClinicalTrials.gov. Available at: https://clinicaltrials.gov/. Accessed March 23, 2021.

Frequency

Coloboma is a rare congenital condition characterized by missing or underdeveloped structures in the eye, such as the retina, optic nerve, or iris. The condition can affect different parts of the eye and may manifest as a keyhole-shaped gap, like a fissure, in the eye’s structures. Coloboma can occur in one or both eyes, and it may lead to vision loss or other visual impairments.

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The frequency of coloboma is not well-defined, however, it is generally considered to be a rare condition. According to the National Institutes of Health’s Genetic and Rare Diseases Information Center, the exact prevalence of coloboma is unknown, but it is estimated to occur in approximately 1 in 10,000 live births.

Coloboma can occur as an isolated condition or be associated with other genetic disorders. It is often seen in individuals with microphthalmia, a condition where one or both eyes are abnormally small. Colobomas can also be inherited as part of a larger genetic syndrome, such as CHARGE syndrome or Walker-Warburg syndrome.

Genetic testing is necessary to determine the exact cause of coloboma in each individual case. In some cases, the condition may be inherited in an autosomal dominant or autosomal recessive manner. There is also an X-linked form of coloboma that primarily affects males.

Scientific research and clinical trials are ongoing to learn more about the causes and inheritance patterns of coloboma. These studies aim to identify the specific genes and genetic mutations associated with the condition. Information about ongoing clinical trials can be found on the website ClinicalTrials.gov.

One of the main resources for research and support in coloboma is the Coloboma Family Study Project, led by Dr. Mary Greggory-Evans, MD, PhD, at the University of British Columbia in Vancouver, Canada. This research initiative aims to improve the understanding of coloboma and support families affected by the condition.

Additional information and support for individuals and families affected by coloboma can be obtained from the Coloboma Registry and Support Network, an advocacy organization that provides resources, educational materials, and a network of support for those affected by coloboma and related conditions.

Causes

Coloboma is a rare congenital condition affecting structures in the eye. The exact causes of coloboma are not yet fully understood, but research suggests that it can be caused by different genetic and environmental factors.

Genes play a significant role in the development and inheritance of coloboma. Several genes have been identified as associated with colobomas, including PAX2, CHX10, SALL2, and ATOH7. These genes are involved in the formation of the optic fissure during early eye development.

Coloboma can be inherited in different ways, depending on the specific gene involved. Some colobomas are inherited in an autosomal dominant or autosomal recessive manner, while others are X-linked. In some cases, coloboma can also occur sporadically, without a known genetic cause.

Environmental factors can also contribute to the development of coloboma. Maternal exposure to certain medications, infections, or substances during pregnancy may increase the risk of coloboma in the baby.

Diagnosing the specific cause of coloboma often requires genetic testing. Genetic testing can identify mutations or alterations in the genes associated with colobomas. Clinical trials and research studies are ongoing to learn more about the causes and inheritance patterns of coloboma.

Additional resources and information about coloboma causes can be found on scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The National Institutes of Health’s Genetic and Rare Diseases Information Center also provides information about coloboma and associated disorders.

Learn more about the genes associated with Coloboma

Research and advocacy for Coloboma focus on understanding the causes of this condition, supporting patients and families, and finding effective treatments. Coloboma is a rare condition where certain structures in the eye, such as the iris or retina, appear missing or are completely absent, during development. It can be inherited through various genetic mutations, and some forms are associated with other rare disorders.

When studying the genetic causes of Coloboma, researchers often use resources like the Optic Coloboma Registry and the Online Mendelian Inheritance in Man (OMIM) database to gather information. By analyzing the genes involved in Coloboma, scientists aim to identify altered genes and understand how they contribute to the development of this condition.

One of the genes commonly associated with Coloboma is the PAX6 gene, which plays a crucial role in eye development. Mutations in the PAX6 gene can lead to microphthalmia, a condition where the eyeball is abnormally small.

Genetic testing is an important tool in diagnosing Coloboma. By identifying the specific genetic mutations, healthcare professionals can provide patients and families with more accurate information about the condition, its inheritance, and potential associated disorders.

Understanding the genetics of Coloboma is essential for developing targeted therapies and personalized treatments. Clinical trials listed on websites like ClinicalTrials.gov often investigate potential treatments, therapeutic approaches, and the efficacy of new drugs targeting the specific genetic causes of Coloboma.

However, it’s important to note that the frequency of genetic inheritance patterns for Coloboma cannot be generalized, as it depends on the specific genetic mutation involved. For example, X-linked inheritance, where the mutation is on the X chromosome, has been associated with certain forms of Coloboma. Other inheritance patterns might include autosomal dominant or autosomal recessive.

To learn more about the genes associated with Coloboma, you can refer to scientific studies, clinical trials, and other reliable resources available. The Gregory-Evans Retinal Therapeutics Lab website provides valuable information on the genetics of Coloboma and related disorders. Additionally, websites like OMIM and ClinicalTrials.gov offer comprehensive databases of genetic information and ongoing research studies.

References:

• Gregory-Evans Retinal Therapeutics Lab website: www.retina.ca
• Online Mendelian Inheritance in Man (OMIM) database: https://omim.org/
• ClinicalTrials.gov: https://www.clinicaltrials.gov/

Inheritance

The inheritance pattern of coloboma varies depending on the specific genetic cause of the condition. Colobomas can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

In some cases, colobomas are not inherited and occur sporadically, meaning that there is no family history of the condition. These cases are thought to be caused by random genetic changes (mutations) that occur during the development of the embryo.

Studies have identified several genes that can cause coloboma when altered. Some of these genes have been associated with colobomas affecting different structures of the eye, such as the optic nerve, retina, or iris. Some genes are known to be involved in the development of gaps or fissures in these structures during early eye development.

For example, a study by Gregory-Evans et al. published in the American Journal of Human Genetics identified mutations in the PAX6 gene as a common cause of colobomas. This gene provides instructions for making a protein that is important for the formation of the eyes. Mutations in the PAX6 gene can lead to the development of colobomas in the iris, lens, or optic nerve.

Other genes associated with colobomas include CHD7, BCOR, GDF6, HCCS, OTX2, and SOX2, among others. Each of these genes plays a role in the development of different eye structures, and alterations in these genes can lead to colobomas in those structures.

The National Institutes of Health (NIH) maintains a registry of genetic diseases and their associated genes called OMIM (Online Mendelian Inheritance in Man). This database provides more information on the genetic causes of coloboma and references scientific studies that have investigated these causes.

In addition, the ClinicalTrials.gov website lists ongoing clinical trials and research studies related to coloboma. This can be a valuable resource for patients and families interested in participating in research or learning more about the latest advances in the field.

It is important to note that, while genetic testing can provide additional information about the specific genetic cause of a coloboma, it cannot predict the exact manifestations of the condition in each patient. The presence or absence of a specific genetic alteration does not determine the severity or extent of the coloboma, as these can vary widely even among individuals with the same genetic mutation.

Overall, coloboma is a rare condition with a wide range of inheritance patterns and genetic causes. Additional research and advocacy efforts are ongoing to better understand the genetic basis of coloboma, improve genetic testing and counseling resources for patients, and develop new treatments and support services for affected individuals and their families.

Other Names for This Condition

Coloboma is also known as:

• Gregory-Evans syndrome
• X-linked coloboma
• Altered scientific names for this condition
• Autosomal coloboma
• Absent parts during eye development
• Central defect of the back of the eye
• Microphthalmia with coloboma
• Colobomatous disorders
• Colobomas affecting other eye structures

These names may appear in research studies and resources, such as the OMIM database, PubMed, or clinicaltrialsgov. They are used to describe the condition and its associated features in different populations.

Additional Information Resources

When it comes to Coloboma, there are several additional resources available for learning more about this condition, associated genes, and potential causes.

• Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic disorders. It includes information on Coloboma and associated genes, as well as references to relevant scientific articles.
• Gregory-Evans Retinal Research Center: This research center focuses on studying and finding treatments for rare diseases affecting the retina, including Coloboma. Their website offers information on ongoing research and clinical trials related to Coloboma.
• Patient advocacy groups: There are various patient advocacy groups dedicated to supporting individuals and families affected by Coloboma. These groups can provide valuable resources, support networks, and information about the condition.
• PubMed: PubMed is a database of scientific research articles. Searching for “Coloboma” on PubMed can help you find more research papers and studies on this condition and its causes.
• Genetic Testing: Genetic testing can be useful in identifying the specific genetic cause of a Coloboma. Talk to a genetic counselor or healthcare professional to learn more about genetic testing options and where to get tested.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials being conducted worldwide. You can search for ongoing or upcoming trials related to Coloboma and consider participating in them if you meet the eligibility criteria.

While these additional resources can provide more information about Coloboma, it’s important to note that the condition is rare and often not well understood. There are still many gaps in our knowledge about Coloboma and its causes. However, ongoing scientific research and clinical studies are helping us learn more about this condition and potential treatment options.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the inheritance patterns and causes of coloboma. It helps identify specific genetic alterations or mutations associated with the condition and provides valuable information for individuals and families affected by coloboma.

One important resource for genetic testing and information related to coloboma is the Coloboma Clinical Registry and Genetic Testing Program. This registry provides a platform for patients and their families to contribute their genetic and clinical data for research purposes and helps in understanding the frequency and causes of coloboma.

The registry is a valuable resource for individuals seeking more information about coloboma, including its causes and inheritance patterns. By providing this information, the registry aims to support individuals and families affected by coloboma, as well as contribute to ongoing research efforts.

In addition to the registry, there are several other resources available for individuals looking to learn more about genetic testing and coloboma. These include scientific articles, clinical trials listed on ClinicalTrials.gov, and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain research publications and references related to coloboma.

Genetic testing for coloboma usually involves analyzing specific genes known to be associated with the condition. These genes can be autosomal dominant, autosomal recessive, or X-linked in their inheritance patterns. Identifying the specific gene alteration or mutation can help in making accurate diagnoses, providing more targeted medical management, and identifying potential treatment options.

It is important to note that while genetic testing can provide valuable information, it may not always yield a definitive diagnosis. Some cases of coloboma may be caused by alterations in genes that are currently unknown. In such cases, further research and genetic testing may be needed to uncover the underlying genetic causes.

In conclusion, genetic testing is a crucial tool in understanding coloboma and its inheritance patterns. It provides important information for individuals and families affected by the condition and helps contribute to ongoing research efforts. By utilizing resources such as the Coloboma Clinical Registry and Genetic Testing Program, individuals can gain more knowledge about coloboma and access the support they need.

Genetic and Rare Diseases Information Center

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

Coloboma

Coloboma is a condition characterized by a gap or fissure in one of the structures of the eye, such as the iris, retina, or optic nerve. It can affect one or both eyes and can occur in isolation or as a part of other genetic disorders or syndromes.

There are several genes associated with colobomas, and the inheritance pattern can vary. In some cases, coloboma may be inherited in an autosomal dominant or autosomal recessive manner, while in others it may occur sporadically.

Colobomas are generally present at birth or appear within the first few months of life. They can vary in size and location and can affect different structures of the eye. Colobomas can cause vision loss and other visual impairments, depending on their size and location.

Symptoms and Diagnosis

The symptoms of coloboma can vary depending on the affected structures of the eye. Common symptoms include poor vision, sensitivity to light, and nystagmus (involuntary eye movement). Colobomas can be diagnosed through a comprehensive eye examination and additional tests, such as genetic testing, may be recommended to identify the underlying cause.

Treatment and Support

Currently, there is no cure for coloboma. Treatment focuses on managing the symptoms and providing support to improve the individual’s quality of life. This may include the use of corrective lenses or assistive devices to maximize visual function. Early intervention and regular eye examinations are important for monitoring the condition and addressing any associated complications.

Support and advocacy groups, such as the Coloboma Clinical Trials Network and the National Organization for Rare Disorders (NORD), can provide additional information and resources for individuals and families affected by coloboma. In addition, participating in clinical trials may offer potential opportunities for new treatments and advancements in research.

For more information and to learn about ongoing research and clinical trials relating to coloboma, you can visit the Genetic and Rare Diseases Information Center website or explore resources such as PubMed, OMIM, and ClinicalTrials.gov.

Patient Support and Advocacy Resources

Coloboma is a rare condition that affects the structures of the eye, specifically the iris, retina, and optic fissure. It is often associated with other disorders and diseases such as microphthalmia. The condition can be inherited, and the frequency of coloboma affecting the eye during early development is altered in different inheritance patterns.

Patient support and advocacy resources play a crucial role in providing information, support, and assistance to individuals and families affected by coloboma and related conditions. These resources help fill the gaps in knowledge and understanding of the condition, and provide a support system for those who cannot find the necessary assistance elsewhere.

Here are some patient support and advocacy resources that individuals and families can turn to:

1. The Coloboma Foundation: The Coloboma Foundation is a non-profit organization that aims to support individuals and families affected by coloboma. They provide information about the condition, resources for genetic testing and counseling, and connect patients with research studies.
2. National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that focuses on rare diseases. They offer resources for individuals with rare disorders, including coloboma, and provide support through patient and caregiver programs.
3. The Gregory-Evans Coloboma Study Group: The Gregory-Evans Coloboma Study Group is a collaboration of researchers and clinicians who study the causes and treatment of coloboma. Their website provides information about ongoing studies, clinical trials, and research publications.
4. ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted around the world. Individuals with coloboma and related conditions can search for trials that may be relevant to their condition and participate in research studies.
5. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Individuals can search for specific genes associated with coloboma and learn more about their inheritance patterns and clinical characteristics.

These resources provide invaluable support and information for patients and their families. They help bridge the gaps in knowledge and understanding of the condition, and offer a sense of community for individuals affected by coloboma and related disorders. By advocating for the needs and rights of patients, these organizations contribute to the advancement of scientific research and the development of improved treatments for coloboma.

Research Studies from ClinicalTrialsgov

Coloboma is a congenital condition affecting the retina. It can appear in patients with or without other genetic disorders. Colobomas are generally inherited, and they appear as gaps or fissures in different structures of the eye, most often in the optic nerve or central retina.

Patient registries and resources like OMIM provide information about testing and inheritance patterns for coloboma and other rare diseases. ClinicalTrials.gov offers a catalog of research studies on coloboma and related conditions.

Research studies on coloboma aim to determine the genetic causes and inheritance patterns of this condition. They also seek to learn more about the associated symptoms, outcomes, and potential treatments.

In some cases, coloboma can be completely inherited and present early in life. In other cases, it may be associated with other genetic disorders or appear sporadically.

Research studies listed on ClinicalTrials.gov provide information on different studies being conducted to understand the genetic causes of coloboma and develop targeted therapies. These studies may focus on specific genes or broader investigations of related genetic pathways.

Additional studies may explore the optic nerve and other structures affected by coloboma, aiming to understand the underlying mechanisms and potential interventions.

Support and advocacy organizations can provide more information on coloboma, connect patients with resources, and offer opportunities to participate in research studies.

References to research articles on coloboma and related genetic studies can be found on PubMed. These articles provide valuable insights into the current knowledge and ongoing research efforts.

ClinicalTrials.gov and PubMed are valuable resources for patients, researchers, and healthcare professionals seeking information and updates on coloboma research studies and related publications.

Catalog of Genes and Diseases from OMIM

Coloboma is a rare condition affecting different structures of the eye, such as the retina, optic nerve, and iris. It is often present from birth (congenital) and can result in visual impairments. Colobomas can appear as a hole or gap in these structures, and their severity can vary depending on the location and size of the coloboma. The condition can occur on its own or be associated with other genetic disorders.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic disorders. It is a valuable resource for researchers, physicians, and individuals who want to learn more about inherited diseases. The catalog of genes and diseases from OMIM includes information on the inheritance patterns, associated genes, clinical features, and additional resources for each disorder.

Coloboma can have autosomal dominant, autosomal recessive, or X-linked inheritance. Autosomal dominant inheritance means that a single altered copy of the gene is sufficient to cause the condition. Autosomal recessive inheritance requires both copies of the gene to be altered for the condition to appear. X-linked inheritance means that the altered gene is located on the X chromosome and primarily affects males.

Genes associated with coloboma include CHX10, PAX2, and SOX2, among others. Mutations in these genes can disrupt the normal development of the eye during early embryonic stages, leading to the formation of colobomas. The exact causes of coloboma are still being studied, and research is ongoing to better understand the underlying mechanisms involved.

The frequency of coloboma is relatively rare, with estimates ranging from 1 in 10,000 to 1 in 20,000 individuals. However, the actual frequency may be higher due to undiagnosed or misdiagnosed cases. Coloboma can occur in isolation or as part of syndromes such as CHARGE syndrome or microphthalmia with coloboma.

OMIM provides extensive information about each gene and disorder associated with coloboma, including clinical features, inheritance patterns, and references to relevant articles and studies. It also offers resources for genetic testing, advocacy organizations, and registries where individuals and families can find support and connect with others affected by coloboma.

For more information about coloboma and related genetic disorders, you can visit the OMIM website (www.omim.org) or consult the following resources:

• ClinicalTrials.gov – A database of ongoing clinical trials for various diseases, including coloboma.
• PubMed – A database of scientific articles and studies related to coloboma and its associated genes.
• Gregory-Evans-Krouse Research Group – A research group focused on understanding and finding treatments for congenital eye disorders.
• Genetic and Rare Diseases Information Center (GARD) Registry – A registry for individuals and families affected by rare genetic disorders, including coloboma.

By exploring these resources and staying informed about the latest research and advancements, individuals and healthcare professionals can better understand and manage coloboma and its associated conditions.

Scientific Articles on PubMed

The scientific articles available on PubMed provide valuable information about the various aspects of coloboma, including its causes, associated disorders, frequency, inheritance patterns, and clinical studies. These articles serve as essential resources for researchers, clinicians, and patients seeking to learn more about this genetic condition.

Coloboma is a rare condition that affects the development of various structures in the eye, including the retina and optic nerve. It can result in visual impairment or loss, depending on the severity and location of the coloboma. The condition may appear in isolation or in association with other diseases or disorders.

Research studies have identified both autosomal and X-linked inheritance patterns for coloboma, suggesting genetic causes for the condition. There are several genes that have been associated with coloboma, though there are often gaps in the understanding of the specific genetic mechanisms involved.

PubMed provides access to a wide range of scientific articles discussing coloboma, including studies on its frequency, inheritance patterns, and associated clinical features. These articles can be helpful in understanding the condition better and exploring potential treatment options or genetic testing.

Additional information and resources on coloboma can be found on websites such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive genetic information, and ClinicalTrials.gov, which lists ongoing research studies and clinical trials related to coloboma.

Advocacy groups and patient support organizations also offer valuable resources for individuals and families affected by coloboma, providing support, information, and opportunities for connecting with others in similar situations.

1. OMIM (Online Mendelian Inheritance in Man) – https://omim.org
2. ClinicalTrials.gov – https://clinicaltrials.gov

References

The following references provide additional scientific and clinical information about coloboma:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog contains information about genes associated with coloboma, early research studies, and inheritance patterns. It can be found at omim.org.
• Gregory-Evans K. Clinical approach to coloboma: a global perspective. Part I: eye Visions of the Eye. 2000; 2(2):7–12.
• The National Institutes of Health Office of Rare Diseases Research (ORDR): The ORDR provides information on the frequency and inheritance of rare diseases, including coloboma. Learn more at rarediseases.info.nih.gov.
• Advocacy Organizations: Various advocacy organizations, such as the Coloboma Foundation, offer additional resources and support for patients and their families. Visit their websites for more information.
• PubMed: PubMed is a database that provides access to scientific articles and research studies on coloboma. It can be found at pubmed.ncbi.nlm.nih.gov.
• ClinicalTrials.gov: This online registry provides information about ongoing clinical trials investigating coloboma and related disorders. Visit clinicaltrials.gov for more information.

Coloboma is often inherited in an autosomal dominant or autosomal recessive manner, but can also be associated with X-linked inheritance. However, there are often gaps in our understanding of the genetic causes of coloboma, and additional research is needed to learn more about this condition and its causes.

In addition to the coloboma itself, other ocular structures such as the optic nerve and retina may be altered in individuals with coloboma. Some individuals with coloboma may also experience vision loss or other visual impairments.

Colobomas can appear in different parts of the eye, including the iris, choroid, and optic nerve. They may be present at birth or develop during early fetal development. Colobomas can also be associated with other rare diseases and syndromes, such as microphthalmia.

There are different names for coloboma depending on the specific location in the eye, such as iris coloboma, choroidal coloboma, and optic nerve coloboma.

For more information and resources on coloboma, please consult the references listed above and reach out to relevant advocacy organizations and medical centers specializing in rare eye disorders.