Retinoblastoma – Austra Health

Retinoblastoma is a rare type of cancer that occurs in the retina of the eye. It is the most common type of eye cancer in children, with an estimated frequency of 1 in every 15,000 live births. Retinoblastomas are typically diagnosed in children under the age of 5.

Studies have shown that retinoblastomas are caused by changes (mutations) in the RB1 gene. In most cases, these mutations occur in both copies of the gene, which leads to the development of tumors in the retina. However, there are also cases where only one copy of the gene is mutated, resulting in a hereditary form of retinoblastoma.

Without treatment, retinoblastomas can spread to other parts of the eye and even to other organs in the body. However, with early detection and appropriate treatment, the prognosis for retinoblastoma patients is generally favorable.

There are several treatment options available for retinoblastoma, including chemotherapy, radiation therapy, and surgical removal of the affected eye. The choice of treatment depends on the size and location of the tumor, as well as the patient’s age and overall health.

More research is needed to better understand the causes of retinoblastoma and to develop more effective treatments. In recent years, there has been a growing interest in the field of retinoblastoma research, with numerous studies being conducted to investigate the genetic and molecular mechanisms underlying this condition.

Patients and their families can find support and learn more about retinoblastoma through various advocacy groups and resources, such as the Retinoblastoma International and the American Association for Cancer Research. These organizations provide information about the disease, genetic testing, clinical trials, and other resources that can help patients and their families navigate the challenges of retinoblastoma.

In conclusion, retinoblastoma is a rare but serious condition that affects the retina of the eye. It is caused by mutations in the RB1 gene and can lead to the development of tumors in the eye. Early detection and appropriate treatment are crucial for ensuring a favorable outcome for retinoblastoma patients. Ongoing research and advancements in genetic testing and treatment options are providing hope for improved outcomes in the future.

Frequency

Retinoblastoma is a rare condition, affecting approximately 1 in every 15,000 live births worldwide. It is the most common primary malignant tumor of the eye in children, accounting for approximately 3% of all childhood cancers.

Resources for information on the frequency of retinoblastoma can be found in various catalogs and databases, such as OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive list of genetic diseases, including retinoblastoma, along with references to scientific articles and clinical studies.

The gallie.org website is another valuable resource for patients and their families to learn more about the condition. It provides information on the history, genetic causes, and inheritance patterns of retinoblastoma.

Research studies and clinical trials related to retinoblastoma can be found on ClinicalTrials.gov, which is a central database for ongoing research studies in the field of medicine. This database can provide information on the frequency of retinoblastoma and ongoing research efforts.

Retinoblastoma is primarily caused by mutations in the RB1 gene, which is located on chromosome 13. In rare cases, other genes and chromosomal abnormalities may be associated with the development of retinoblastoma.

Genetic testing can be done to determine the presence of RB1 gene mutations in individuals with a family history of retinoblastoma or those who have been diagnosed with the condition. This testing can help with early detection and provide information on the risk of passing on the condition to future generations.

Advocacy and support organizations, such as the Retinoblastoma Center of Houston and the Children’s Oncology Group, provide additional resources and information for patients and their families. These organizations offer support services and help connect families with the latest research and treatment options.

Retinoblastoma is often characterized by clinical signs such as leukocoria (white pupil), strabismus (crossed eyes), and an enlarged or misshapen eye. Early detection and treatment are crucial for preserving vision and preventing the spread of the cancer to other parts of the body.

References:

Gallie BL. Retinoblastoma. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1452/
Ajaiyeoba AI, Akang EE, Campbell OB, Olurin O. Current trends in retinoblastoma management. Nigerian journal of medicine : journal of the National Association of Resident Doctors of Nigeria. 2006;15(3):221-227.
Retinoblastoma – Genetic and Rare Diseases Information Center (GARD). National Library of Medicine, National Institutes of Health. Available from: https://rarediseases.info.nih.gov/diseases/6666/retinoblastoma

Causes

This section will provide information on the causes of retinoblastoma. Retinoblastoma is a rare type of eye cancer that occurs in young children. It is caused by changes in certain genes that play a role in the development and growth of cells in the retina, the light-sensitive tissue at the back of the eye.

There are two forms of retinoblastoma: hereditary and non-hereditary. In hereditary retinoblastoma, a child inherits an altered gene from one or both parents. This gene is called the RB1 gene and is located on chromosome 13. Children with hereditary retinoblastoma have a 50% chance of passing the altered gene to their children.

Non-hereditary retinoblastoma, also known as sporadic retinoblastoma, occurs without the inheritance of the altered gene. Most cases of retinoblastoma are sporadic. However, children with non-hereditary retinoblastoma can still pass the altered gene to their children in future generations.

It is important to note that the altered RB1 gene is not the only cause of retinoblastoma. Additional genetic changes can occur in retinoblastoma cells, leading to the development of retinoblastomas with or without RB1 gene alterations. Scientists are still studying these genetic changes to learn more about their role in retinoblastoma.

Retinoblastoma is also associated with other genetic conditions. For example, children with a rare condition called trilateral retinoblastoma are at an increased risk of developing retinoblastoma and tumors in the brain. Genetic testing and counseling can provide more information about the risk of retinoblastoma in families affected by these conditions.

If you would like to learn more about the causes of retinoblastoma, you can find additional information in the following resources:

OMIM – Online Mendelian Inheritance in Man, a catalog of genes and genetic disorders
ClinicalTrials.gov – a database of clinical studies
PubMed – a database of scientific articles
Retinoblastoma International – a patient advocacy and support center
Johns Hopkins Medicine – more information about testing, genetics, and research on retinoblastoma

Learn more about the genes and chromosome associated with Retinoblastoma

Retinoblastoma is a rare, genetic eye cancer that primarily affects children. It is caused by mutations in the RB1 gene, which is located on chromosome 13. The RB1 gene is responsible for producing a protein that helps control cell division and prevent the formation of tumors.

Scientific studies, research, and clinical observations have provided valuable information about the genes and chromosome associated with retinoblastoma. The RB1 gene is considered the main gene associated with this condition, and mutations in this gene are found in the majority of retinoblastoma cases.

Retinoblastoma follows an autosomal dominant inheritance pattern, which means that a person only needs to inherit one copy of the mutated RB1 gene to develop the condition. If a child inherits the mutated gene from one parent, they have a 50% chance of developing retinoblastoma.

There is a hereditary form of retinoblastoma that can be passed down from generation to generation. In these cases, individuals are born with a mutated RB1 gene, increasing their susceptibility to developing retinoblastoma. However, retinoblastoma can also occur sporadically, without any family history of the disease.

Genetic testing can be done to identify RB1 gene mutations in individuals with suspected or confirmed retinoblastoma. This testing can help confirm the diagnosis, provide information about disease prognosis, and inform treatment decisions.

There are several resources available for learning more about the genes and chromosomes associated with retinoblastoma. The National Center for Biotechnology Information (NCBI) provides a database called OMIM (Online Mendelian Inheritance in Man), which catalogues scientific information about genetic diseases, including retinoblastoma and RB1 gene mutations.

In addition to OMIM, the Retinoblastoma International (RBI) website offers support, advocacy, and resources for patients and families affected by retinoblastoma. The RBI website includes articles, patient stories, references to research studies, and information about genetic counseling and testing for retinoblastoma.

Frequent genetic testing, family history, and additional resources will help researchers and scientists in understanding the causes, genetics, and other factors associated with retinoblastomas. These studies and resources are essential in advancing the knowledge and treatment options for this rare and complex condition.

Inheritance

Retinoblastoma is a rare form of cancer that primarily affects the eyes, specifically the retinas. It is a genetic condition that can be inherited from one or both parents. In some cases, retinoblastoma can also develop spontaneously without a family history of the disease.

There are two forms of retinoblastoma: hereditary and non-hereditary. Hereditary retinoblastoma is caused by a mutation in the RB1 gene, which is responsible for regulating cell growth and division. This mutation can be passed down from one generation to the next. Non-hereditary retinoblastoma, on the other hand, occurs due to spontaneous mutations in the RB1 gene and is not passed down from parent to child.

Retinoblastoma is often associated with other genetic disorders, such as osteosarcoma and pinealomas. These conditions can occur in individuals with a family history of retinoblastoma or in those with no known family history. Scientific studies have identified additional genes and chromosome abnormalities that are associated with retinoblastoma.

Other Names for This Condition

Retinoblastoma is also known by other names, including:

Retinoblastoma, Hereditary
Genetic Retinoblastoma
Retinoblastoma, Familial
Retinoblastoma, Bilateral
RB

This condition is rare and primarily affects children. It is characterized by the development of tumors in the retina of the eye. Retinoblastoma can be inherited from genes passed down through families, or it can occur without a family history of the condition.

Retinoblastoma is associated with mutations in the RB1 gene, which is located on chromosome 13. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the RB1 gene can disrupt the normal regulation of cell growth and lead to the development of retinoblastomas.

Additional research is ongoing to learn more about the causes and frequency of retinoblastoma. Scientific studies and clinical trials are being conducted to investigate the genetics, inheritance patterns, and associated diseases of this condition. Information and resources can be found at reputable sources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the National Institutes of Health’s genetic testing registry.

For patients and families affected by retinoblastoma, there are advocacy and support organizations that provide information and resources. These organizations can offer guidance on genetic testing, treatment options, and available clinical trials. They may also offer support groups for individuals and families dealing with the challenges of this rare condition.

Retinoblastoma is often diagnosed through a comprehensive eye examination and imaging tests. Treatment options may include surgery, radiation therapy, and chemotherapy, depending on the stage and severity of the disease. Regular follow-up care is important to monitor for potential recurrence and to address any long-term effects of treatment.

In summary, retinoblastoma is a rare condition primarily affecting children, characterized by the development of tumors in the retina of the eye. It can be inherited from genes passed down through families or occur without a family history. Further research and genetic testing are underway to better understand the causes and frequency of this condition. Advocacy and support organizations are available to provide information and resources to patients and families affected by retinoblastoma.

Additional Information Resources

Here are some additional information resources about retinoblastoma:

Retinoblastoma Center: Provides information on retinoblastoma, including its causes, symptoms, and treatment options. The center also offers support for patients and their families.
Retinoblastoma Genetics: Learn about the genetics of retinoblastoma and the specific genes that can cause this rare form of cancer.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic basis of retinoblastoma and other rare diseases.
Retinoblastoma Testing: Find out more about genetic testing options for retinoblastoma and how they can help diagnose the condition.
Chromosome 13q Deletion Syndrome: Learn about this rare chromosome disorder that is associated with retinoblastoma and other diseases.
ClinicalTrials.gov: Find ongoing clinical trials and research studies related to retinoblastoma and its treatment options.
Retinoblastoma Information Center: A central resource for patient information on retinoblastoma, including its history, causes, and associated conditions.
Retinoblastoma Publications: Access scientific articles and publications about retinoblastoma from trusted sources such as PubMed.
Retinoblastoma Support and Advocacy: Discover organizations and support groups that offer assistance to individuals and families affected by retinoblastoma.

By exploring these additional resources, you can learn more about retinoblastoma, its causes and inheritance patterns, genetic testing options, treatment approaches, and find support from others who have experienced this condition.

Genetic Testing Information

Retinoblastoma is a rare genetic disorder that affects the retina of the eye. It is caused by mutations in the RB1 gene on chromosome 13. Genetic testing can provide valuable information about the inheritance pattern, frequency, and associated genes of this condition.

Genetic testing is a way to analyze an individual’s DNA to identify changes or mutations in specific genes. This can help determine the risk of developing retinoblastoma and provide information about the likelihood of passing the condition to future generations.

There are two types of retinoblastoma: hereditary and non-hereditary. Hereditary retinoblastoma is caused by a mutation that is present in every cell of the body, while non-hereditary retinoblastoma is caused by a mutation that only affects the cells of the eye.

Genetic testing can be done to determine the presence of RB1 gene mutations in individuals with retinoblastoma or their family members. This information can help with diagnosis, treatment decisions, and genetic counseling for affected individuals and their families.

Genetic testing for retinoblastoma can be done using various methods, such as DNA sequencing, deletion/duplication analysis, and other molecular genetic testing methods. It is usually performed on a blood sample or a sample of tumor tissue.

Genetic testing can provide important information about the risk of developing other cancers and diseases associated with retinoblastoma. It can also help identify other family members who may be at risk for the condition.

Genetic testing for retinoblastoma is typically offered to individuals with a personal or family history of the condition, as well as those with clinical features suggestive of hereditary retinoblastoma.

For more information on genetic testing for retinoblastoma, you can visit the following resources:

OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders, including retinoblastoma. Provides detailed information on the genetics and inheritance of retinoblastoma. Available for free online.
PubMed – A database of scientific research articles. Search for “retinoblastoma genetics” or related terms to find the latest studies and research on the genetic causes and inheritance patterns of retinoblastoma.
ClinicalTrials.gov – A registry of clinical trials. Search for “retinoblastoma genetics” to find clinical trials and studies that are investigating the genetic aspects of retinoblastoma.
Retinoblastoma Genetics Center – A center dedicated to research, advocacy, and support for individuals and families affected by retinoblastoma. Provides additional information and resources on retinoblastoma genetics.

In conclusion, genetic testing can provide valuable information about the genetics and inheritance of retinoblastoma. It can help with diagnosis, treatment decisions, and genetic counseling for affected individuals and their families. There are various resources available to learn more about the genetic aspects of retinoblastoma and the available genetic testing options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource that provides information about genetic and rare diseases. GARD is a central repository for information on over 7,000 rare diseases, including Retinoblastoma. GARD provides information on the genetic basis of these diseases and offers support and resources for patients and their families.

Retinoblastoma is a rare genetic condition that affects the cells of the retina, the light-sensitive tissue at the back of the eye. It is caused by mutations in the RB1 gene, which is located on chromosome 13. The RB1 gene codes for a protein that helps regulate cell division. Mutations in this gene can lead to uncontrolled cell growth and the development of retinoblastomas.

Retinoblastoma can be inherited in two ways: through a germline mutation in the RB1 gene, or through a somatic mutation that occurs in the early stages of development. Germline mutations are present in all of the body’s cells and can be passed on from one generation to the next. Somatic mutations, on the other hand, occur only in the cells that will become retinoblastomas and are not passed on to future generations.

The frequency of retinoblastoma is estimated to be around 1 in 15,000 to 20,000 live births. The condition is more common in certain populations and is associated with a family history of retinoblastoma or with other cancers.

GARD provides information on the signs and symptoms of retinoblastoma, as well as on the diagnosis and treatment options available. The website also includes links to additional resources, such as scientific articles, clinical trials, and genetic testing laboratories. GARD is a valuable resource for patients, families, and healthcare providers interested in learning more about retinoblastoma and other rare diseases.

References:

“Retinoblastoma.” Genetic and Rare Diseases Information Center. Accessed March 1, 2022. https://rarediseases.info.nih.gov/diseases/3979/retinoblastoma.
Gallie BL. Retinoblastoma gene. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews, University of Washington, Seattle. 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1452/.
“Retinoblastoma.” OMIM. Accessed March 1, 2022. https://www.omim.org/entry/180200.

Patient Support and Advocacy Resources

The diagnosis of retinoblastoma can be overwhelming for patients and their families, as it is a rare and potentially life-threatening condition. Fortunately, there are several patient support and advocacy resources available to help individuals and families navigate this journey.

Research Studies from ClinicalTrialsgov

The Retinoblastoma Genetics Center is conducting ongoing research studies to investigate the causes and inheritance patterns of retinoblastoma, a rare genetic condition that leads to the development of tumors in the retina of the eye.

Retinoblastoma is caused by mutations in the RB1 gene, which is located on chromosome 13. Inheritance of the condition can be either sporadic, occurring in individuals with no family history, or hereditary, passing from one generation to the next.

ClinicalTrials.gov provides a centralized catalog of research studies that are currently investigating retinoblastoma and other related diseases. These studies aim to uncover more information about the genetic factors that contribute to the development of retinoblastoma and other cancers, as well as to improve diagnostic testing and treatment options.

Family history and genetic testing can help identify individuals who may be at an increased risk of developing retinoblastoma. Genetic counseling and support services are available to assist families in understanding the implications of the condition and making informed decisions about testing and treatment options.

About three-quarters of all retinoblastomas are caused by mutations in the RB1 gene. However, there are other rare genes and chromosome abnormalities that have also been found to be associated with the condition. Research studies aim to identify these additional genetic factors and understand their frequency in individuals with retinoblastoma.

The Retinoblastoma Genetics Center works in collaboration with patient advocacy groups, such as the International Retinoblastoma Staging Working Group, to provide free resources and support for individuals and families affected by retinoblastoma. These organizations offer information about the condition, its causes, inheritance patterns, and available treatment options.

Scientific articles and references about retinoblastoma can be found in databases such as PubMed and OMIM. These resources provide further information on the genetics, clinical presentation, and management of retinoblastoma.

Research studies from ClinicalTrials.gov are essential in advancing our understanding of retinoblastoma and improving patient outcomes. By participating in these studies, individuals and families can contribute to the development of new treatments and interventions that could benefit future generations.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and rare genetic diseases. It provides information about the testing, genetics, and inheritance of various diseases, including retinoblastoma.

Retinoblastoma is a rare cancer that affects the retina, the light-sensitive tissue at the back of the eye. It usually occurs in young children and can lead to vision loss or even death if not diagnosed and treated early.

OMIM offers free access to information about retinoblastoma and many other genetic diseases. The catalog includes detailed descriptions of the genes associated with these conditions, as well as references to scientific articles and clinical trials. It also provides information about the frequency of the disease and the inheritance patterns.

For retinoblastoma, OMIM provides information about the RB1 gene, which is located on chromosome 13. Mutations in this gene can lead to the development of retinoblastoma. The catalog also includes information about other genes and genetic factors that may be associated with the condition.

In addition to the genetic information, OMIM provides resources for patients and families affected by retinoblastoma. These resources include information about support groups, advocacy organizations, and research centers that specialize in the condition. OMIM also provides links to clinicaltrials.gov, where patients can find information about ongoing clinical studies for retinoblastoma.

By using OMIM, patients, families, and healthcare professionals can learn more about retinoblastoma and other rare diseases. The catalog provides a centralized source of information that can help with diagnosis, treatment decisions, and genetic counseling. OMIM bridges the gap between scientific research and clinical practice, providing a valuable resource for the medical community and patients alike.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on retinoblastoma. Retinoblastoma is a rare condition that affects the retina of the eye. It is a type of cancer that primarily occurs in children.

Retinoblastoma has a complex history, with scientists and clinicians working together to understand its causes and develop effective treatments. The frequency of retinoblastoma is relatively low, but it is important to support research in this area to learn more about the condition and improve patient outcomes.

Scientists have discovered that retinoblastoma is associated with mutations in the RB1 gene, located on chromosome 13. This gene plays a critical role in regulating cell division and preventing the formation of tumors. Mutations in RB1 can be inherited from a parent or can occur spontaneously in the germline.

There are also other rare genetic conditions associated with retinoblastoma, such as the hereditary form of retinoblastoma and trilateral retinoblastoma. These conditions have additional genetic changes that contribute to the development of tumors.

Research studies, including clinical trials listed on clinicaltrialsgov, are ongoing to investigate the causes of retinoblastoma and develop new treatments. Genetic testing is often recommended for patients with retinoblastoma and their family members to identify mutations in the RB1 gene and determine the risk of passing the condition to future generations.

PubMed provides a wealth of information about retinoblastoma and related diseases. The database includes articles on the genetics, clinical characteristics, and treatment options for retinoblastoma. It is a valuable resource for researchers, clinicians, and families affected by retinoblastoma.

References:

Gallie BL. Retinoblastoma: Genetic Counseling and Testing. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1452/
Gallie BL. Retinoblastoma. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1452/
OMIM. Retinoblastoma. Available from: https://www.omim.org/entry/180200

Additional articles on retinoblastoma can be found on PubMed by searching for keywords such as “retinoblastoma,” “RB1 gene,” and “trilateral retinoblastoma.” It is important to stay updated on the latest research in order to provide the best care for patients with retinoblastoma and their families.

References

Catalog of Clinical Resources and Patient Support: A comprehensive list of information and support for patients and families affected by retinoblastoma. Available at: https://cancer.gov/types/retinoblastoma/patient
OMIM: A database of human genes and genetic disorders. Retinoblastoma information available at: https://www.omim.org/entry/180200
Retinoblastoma Resource: Provides information, advocacy, and support for families affected by retinoblastoma. Available at: https://www.retinoblastoma.org/
Retinoblastoma Information: Information about the causes, history, and inheritance of retinoblastoma. Available at: https://www.cancer.net/cancer-types/retinoblastoma
Retinoblastoma – Genetics Home Reference: More information about the condition and its genetic inheritance. Available at: https://ghr.nlm.nih.gov/condition/retinoblastoma
Retinoblastoma – PubMed Central: Research articles, studies, and clinical trials related to retinoblastoma. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=retinoblastoma

Additional Scientific Studies:

Gallie BL. Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer. Semin Cancer Biol. 2000;10(4):255-269. doi:10.1006/scbi.2000.0335
Genetics Home Reference. RB1 gene. Available at: https://ghr.nlm.nih.gov/gene/RB1
Retinoblastoma – Cancer Genetics Web. Available at: https://www.cancerindex.org/geneweb/RB

Free Genetic Testing Resources:

Hereditary Retinoblastoma Testing – ClinicalTrials.gov. Available at: https://clinicaltrials.gov/ct2/show/NCT01668561
Genetic Testing for Retinoblastoma – Retinoblastoma Resource. Available at: https://www.retinoblastoma.org/retinoblastoma/genetics-testing/603-genetic-testing-for-retinoblastoma

Frequency

Causes

Learn more about the genes and chromosome associated with Retinoblastoma

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

References:

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

RECOMMENDED

Greig cephalopolysyndactyly syndrome

PLA2G6 gene

IRF5 gene