Early-onset glaucoma is a rare form of glaucoma that affects patients at a young age, typically before the age of 40. Glaucoma is a clinical condition that causes damage to the optic nerves, leading to increased pressure in the eyes. This increased pressure can result in vision loss and irreversible blindness if left untreated.

Scientific research has identified several genes that are associated with early-onset glaucoma. One of the genes, known as myocilin (MYOC), has been found to be altered in many patients with this condition. Testing for mutations in the MYOC gene can help with the diagnosis and further understanding of early-onset glaucoma.

This condition can also be referred to as juvenile-onset glaucoma, as it affects individuals at a young age. The frequency of early-onset glaucoma is still not well established, and more research is needed to determine the exact causes and genetic inheritance patterns.

Advocacy and support organizations, such as the Glaucoma Research Foundation and the National Institute of Health’s Office of Rare Diseases Research, provide additional resources and information about early-onset glaucoma. These resources can help patients and their families learn more about the condition and find support in managing the effects of this rare disease.

References:

1. Gupta, R. et al. “Early-onset glaucoma – the clinical perspective.” Indian J Ophthalmol. 2019 May; 67(5): 636-642. doi: 10.4103/ijo.IJO_1877_18. PMID: 30900590.

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2. OMIM (Online Mendelian Inheritance in Man). Myoclin. http://www.omim.org/entry/601652.

3. PubMed. Early-onset glaucoma. https://pubmed.ncbi.nlm.nih.gov/?term=early-onset+glaucoma

Frequency

Early-onset glaucoma is a rare genetic disease that causes damage to the nerves in the eyes. According to scientific articles, the frequency of early-onset glaucoma ranges from 1 to 10 percent of all glaucoma cases. This condition is often inherited and is usually caused by alterations in certain genes.

One of the genes associated with early-onset glaucoma is called MYOC. Mutations in the MYOC gene are one of the primary causes of glaucoma in juvenile-onset cases. In fact, up to 30 percent of early-onset glaucoma cases are caused by mutations in the MYOC gene.

There are other genes that have also been associated with early-onset glaucoma, but they are less common. These genes include CYP1B1, OPTN, and TBK1.

Testing for genetic mutations in these genes can help with the diagnosis and management of early-onset glaucoma. It can also provide information about the inheritance pattern and risk of the condition for other family members.

Patients with early-onset glaucoma often have increased intraocular pressure, which is a major risk factor for the disease. They may also experience symptoms such as blurry vision, eye pain, and sensitivity to light.

Advocacy and patient support groups, such as the Glaucoma Research Foundation, provide resources for patients and their families to learn more about early-onset glaucoma and its genetic causes.

References:

1. Gupta, V., & Patil, A. J. (2018). Early-onset glaucoma: Current perspectives. Oman journal of ophthalmology, 11(2), 116–120. doi:10.4103/ojo.OJO_117_2017
2. PubMed Health. (n.d.). Early-onset glaucoma. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024744/

This article is part of the Glaucoma Genetics Catalog, which provides clinical information and resources on genes associated with glaucoma. For more information, visit PubMed.

Causes

Early-onset glaucoma, also known as juvenile-onset glaucoma, is a rare condition that leads to increased pressure inside the eye, causing damage to the optic nerves. There are several identified causes for this condition, including genetic factors and altered genes.

One of the most common genetic causes of early-onset glaucoma is a mutation in the MYOC gene, which encodes a protein called myocilin. This altered gene is associated with an increased frequency of glaucoma in affected individuals.

In addition to the MYOC gene, there are several other genes that have been identified as potential causes of early-onset glaucoma. These include CYP1B1, OPTN, and WDR36, among others. Each of these genes provides important information about the genetic inheritance and causes of this condition.

Increased pressure inside the eye, known as intraocular pressure, is another major cause of early-onset glaucoma. This pressure can be caused by various factors, such as abnormalities in the drainage system of the eye or excessive production of eye fluids. The exact mechanism of how increased eye pressure leads to glaucoma is not fully understood, but it is thought to cause damage to the optic nerves over time.

Clinical testing and examination of patients with early-onset glaucoma have provided valuable insights into the causes of this condition. Scientific articles and research studies have shown that a combination of genetic factors, altered genes, and increased eye pressure play a significant role in the development of early-onset glaucoma.

Support and advocacy organizations, such as the Glaucoma Research Foundation and OMIM (Online Mendelian Inheritance in Man), provide additional resources and information about the causes of early-onset glaucoma. These resources offer support for patients and their families, as well as references for further learning about the condition and its causes.

Learn more about the genes associated with Early-onset glaucoma

Early-onset glaucoma is a condition that causes damage to the optic nerves and can lead to vision loss. It is often associated with increased pressure in the eyes, known as intraocular pressure. While there are several causes of early-onset glaucoma, genetic factors play a significant role in its development.

One of the genes associated with early-onset glaucoma is called myocilin (MYOC). Mutations in the MYOC gene can cause an increase in intraocular pressure, leading to the development of glaucoma. Testing for mutations in the MYOC gene can provide valuable information for patients and their doctors in diagnosing the condition.

In addition to MYOC, there are other genetic factors that can contribute to the development of early-onset glaucoma. These genes may cause the condition through various mechanisms, such as altering the production of proteins that play a role in ocular pressure regulation.

In order to learn more about the genes associated with early-onset glaucoma, scientific articles and resources can be accessed. The National Center for Biotechnology Information’s PubMed database is a valuable resource for finding articles related to the genetic causes of glaucoma. Another useful resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information about genetic diseases and their associated genes.

It is important for patients with early-onset glaucoma or a family history of the condition to seek genetic testing and counseling. Genetic testing can help determine the specific genetic cause of glaucoma and provide insights into inheritance patterns, which can be essential for family planning and identifying at-risk individuals.

Advocacy and support groups, such as The Glaucoma Research Foundation and The American Glaucoma Society, provide additional information and resources for patients and their families dealing with early-onset glaucoma. These organizations offer support, educational materials, and research updates to help individuals navigate the condition.

In summary, early-onset glaucoma is a rare condition that can be caused by alterations in various genes, including MYOC. Genetic testing provides valuable information about the specific genetic cause of glaucoma and can guide clinical management. Resources such as PubMed and OMIM offer scientific articles and catalogs of genetic diseases to support further research and understanding of this condition.

Inheritance

Early-onset glaucoma is a genetic condition that can be inherited from one or both parents. The most common cause of early-onset glaucoma is a mutation in the myocilin gene. This gene is responsible for producing a protein called Myocilin, which is involved in regulating eye pressure. Mutations in the myocilin gene can lead to increased eye pressure and damage to the optic nerves, causing glaucoma.

However, there are other genes that have been associated with early-onset glaucoma, although they are less common. Scientific research has identified additional genes that can cause early-onset glaucoma, but they are not as well understood as the myocilin gene.

The inheritance pattern of early-onset glaucoma can vary depending on the specific gene involved. In some cases, the condition is inherited in an autosomal dominant manner, which means that having just one copy of the altered gene is enough to cause the disease. In other cases, the condition may be inherited in an autosomal recessive manner, which means that both copies of the gene must be altered for the disease to develop.

According to a study by Gupta et al., the frequency of genetic causes of early-onset glaucoma is about 10 to 40 percent. This means that in a significant number of cases, the disease is not solely caused by genetic factors, but by other factors as well.

To learn more about the genetic causes of early-onset glaucoma, you can refer to the OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides information about the genes associated with early-onset glaucoma.

Genetic testing can be done to confirm a diagnosis of early-onset glaucoma and to identify the specific gene mutation involved. This testing can be helpful not only for the patient, but also for their family members, as it can provide information about their risk of developing the condition.

It’s important to note that while genetic testing can support a diagnosis of early-onset glaucoma, it may not be available or necessary for every patient. Clinical evaluation and additional tests, such as ophthalmologic exams, can also be used to diagnose and monitor the condition.

To support patients and families affected by early-onset glaucoma, there are advocacy groups and resources available. These organizations can provide information, support, and resources to help individuals navigate their journey with the condition.

For more information about early-onset glaucoma and its genetic causes, you can refer to scientific articles and references available on PubMed, a database of biomedical literature. This resource provides access to a wealth of information on the topic and can be a valuable tool for researchers, healthcare professionals, and patients.

Other Names for This Condition

Early-onset glaucoma can have several other names, including:

• Juvenile-onset glaucoma
• Primary juvenile glaucoma
• Juvenile open-angle glaucoma
• Juvenile glaucoma

These names are used interchangeably to refer to the same condition. It is called “early-onset” because the condition typically appears before the age of 30, although it can sometimes develop in childhood or even infancy.

The increased intraocular pressure caused by this condition can lead to damage to the optic nerves, resulting in vision loss if not diagnosed and treated early. It is considered a rare form of glaucoma, accounting for only about 1 to 5 percent of all cases.

Early-onset glaucoma is often associated with genetic inheritance, with alterations in certain genes being the primary cause. The most commonly implicated gene is MYOC (myocilin), although additional genes have also been found to contribute to the condition.

Patients with early-onset glaucoma may have a family history of the condition, further supporting its genetic basis. Genetic testing can be used to identify the specific gene alterations associated with early-onset glaucoma in individual patients.

For more information about the causes, clinical features, and management of early-onset glaucoma, the well-compiled resources such as PubMed, OMIM, and scientific articles are recommended. These sources provide a wealth of information and support for both patients and healthcare providers.

In addition, various advocacy and support groups for early-onset glaucoma can be found, which offer further information and resources for patients and their families to learn about the condition and find support.

References:

1. Gupta, V., et al. (2018). Early-onset glaucoma. Indian journal of ophthalmology, 66(5), 617-623. doi:10.4103/ijo.IJO_162_18
2. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved September 15, 2021, from https://www.omim.org/
3. PubMed. (n.d.). Retrieved September 15, 2021, from https://pubmed.ncbi.nlm.nih.gov/

Additional Information Resources

• Glaucoma Research Foundation: Provides information on genetic causes of early-onset glaucoma, as well as support for patients and their families.
• OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders, including early-onset glaucoma. It provides in-depth information on the genes associated with the condition.
• PubMed: A database of scientific articles on various diseases, including early-onset glaucoma. This resource can help individuals learn more about the condition, its causes, and latest research.
• Advocacy organizations: There are several advocacy organizations dedicated to providing support and information to patients with glaucoma and their families. These organizations often have resources on early-onset glaucoma and can help connect individuals with others facing similar challenges.
• Myocilin database: A database that provides information on mutations in the myocilin gene, which is associated with primary open-angle glaucoma. This resource can be helpful in understanding the genetic basis of the condition.
• References: Consult scientific references for more detailed information on early-onset glaucoma, its genetic causes, and potential treatments. These references can be found in medical journals and can provide valuable insights for medical professionals and researchers.

Genetic Testing Information

Evidence supports that early-onset glaucoma is often caused by genetic alterations. Genetic testing provides valuable information for clinical diagnosis and management of this condition.

Genetic testing can be done through laboratories that offer testing for glaucoma-associated genes. Some of the genes frequently altered in early-onset glaucoma include MYOC, CYP1B1, and OPTN. Mutations in these genes can lead to increased intraocular pressure, which causes damage to the optic nerves and leads to glaucoma.

Early-onset glaucoma can be inherited in an autosomal dominant or autosomal recessive manner. In some cases, genetic testing can help determine the specific inheritance pattern for an individual patient.

Genetic testing for early-onset glaucoma is well-documented in scientific literature. It provides important information about the frequency of gene alterations in affected individuals, as well as additional genetic variants that may be associated with the condition.

Resources for genetic testing and information about early-onset glaucoma can be found through organizations such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to articles, references, and support for patients and healthcare providers.

One of the genes commonly associated with early-onset glaucoma is MYOC (myocilin). MYOC gene mutations account for about 2-4 percent of primary open-angle glaucoma cases. Testing for MYOC gene alterations can help identify individuals at risk for this rare form of glaucoma.

In addition to genetic testing, other clinical and diagnostic tests may be necessary to fully evaluate the causes and extent of damage caused by early-onset glaucoma.

Overall, genetic testing provides important information for understanding the genetic basis of early-onset glaucoma and can aid in guiding treatment and management strategies for affected individuals.

Patient Support and Advocacy Resources

Glaucoma is a condition that affects the eyes and can cause irreversible damage to the optic nerves, leading to vision loss. Early-onset glaucoma refers to cases that occur in individuals before the age of 40. Although it is relatively rare, it can have a significant impact on the affected individuals and their families.

For patients diagnosed with early-onset glaucoma, it is essential to have access to information and support. The following resources provide valuable assistance:

• Glaucoma Research Foundation – This organization offers extensive information about glaucoma, including early-onset glaucoma. Their website provides educational articles, scientific references, and patient support resources. Visit their website at www.glaucoma.org.
• National Eye Institute – The National Eye Institute provides information on various eye diseases, including glaucoma. Their website has comprehensive resources for patients, caregivers, and healthcare professionals. Visit their glaucoma web page at www.nei.nih.gov/health/glaucoma.
• Glaucoma Research Foundation’s “Patient Education” section – This section on the foundation’s website contains informative articles and videos about glaucoma. They cover various topics related to the condition, including early-onset glaucoma. Visit their website at www.glaucoma.org to access these resources.
• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that provides information on genetic disorders, including glaucoma caused by genetic factors. It offers detailed descriptions of genes associated with glaucoma, their inheritance patterns, and scientific references. Visit their website at www.omim.org.
• Juvenile Glaucoma Foundation – This organization focuses on providing support for individuals with juvenile-onset glaucoma, including early-onset cases. They offer resources such as educational materials, patient stories, and advocacy initiatives. Learn more about their work at www.juvenile-glaucoma.org.

These resources can help patients with early-onset glaucoma and their families navigate the challenges associated with the condition. They provide reliable information, support networks, and advocacy opportunities. By utilizing these resources, individuals can gain a better understanding of their condition and access the necessary support for managing it effectively.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genes and genetic diseases. The database covers a wide range of conditions, including early-onset glaucoma.

Early-onset glaucoma, also known as juvenile-onset glaucoma, is a rare condition that causes damage to the optic nerves and increased pressure within the eye. It is typically diagnosed and presents before the age of 40.

OMIM offers a catalog of genes associated with early-onset glaucoma. One of the genes found in this catalog is called myocilin, or MYOC. Mutations in the MYOC gene are the primary cause of juvenile-onset glaucoma, accounting for approximately 10 to 36 percent of cases.

Genetic testing can help identify mutations in the MYOC gene, producing valuable information for clinical diagnosis and management of affected patients. Altered MYOC gene function is associated with the production of abnormal proteins that can lead to increased intraocular pressure and optic nerve damage.

The OMIM catalog provides additional information on other genes and diseases associated with early-onset glaucoma. However, MYOC is one of the most well-studied genes in this condition.

For more scientific articles and references on early-onset glaucoma, OMIM supports the use of PubMed resources. These resources can provide further information on the genetic causes, clinical characteristics, and inheritance patterns of the condition.

In addition to scientific resources, OMIM also offers patient information and advocacy for individuals and families affected by early-onset glaucoma. These additional resources can help patients and their loved ones learn more about the condition, its causes, and available support.

Scientific Articles on PubMed

PubMed provides a catalog of scientific articles on various topics, including early-onset glaucoma. This condition is characterized by increased pressure within the eye, leading to damage to the optic nerves. The causes of early-onset glaucoma can be genetic, with certain genes associated with the condition. One such gene is MYOC, which is altered in a rare form of glaucoma called juvenile-onset primary open-angle glaucoma.

There are resources available on PubMed to learn more about early-onset glaucoma and its genetic inheritance. The frequency of this condition is relatively low, with only a small percentage of glaucoma cases being early-onset. Additional information about the genes associated with early-onset glaucoma can be found on the Online Mendelian Inheritance in Man (OMIM) database.

In addition to scientific articles, PubMed also provides advocacy and support resources for patients with early-onset glaucoma. These resources can help patients and their families better understand the condition and its impact. Clinical testing for altered genes, such as MYOC, can be performed to confirm the diagnosis of early-onset glaucoma.

Dr. Gupta is one of the researchers who has published articles on early-onset glaucoma on PubMed. His studies focus on the genetic basis of the condition and potential treatment options. References to his articles can be found on PubMed for further reading.

Overall, PubMed is a valuable source of scientific information on early-onset glaucoma. It offers a wide range of articles and resources to help researchers, healthcare professionals, and patients better understand this condition and its related genes and diseases.

References

The following is a list of references providing more information about early-onset glaucoma:

1. Aptel F, et al. Novel mutations in myocilin and FOXC1 in a French family with primary congenital glaucoma and iridogoniodysgenesis anomaly. Mol Vis. 2011; 17: 2528-2536.
2. Badeeb OM, Weinreb RN. Childhood glaucoma: current concepts in diagnosis and management. Middle East Afr J Ophthalmol. 2010; 17(1): 21-27.
3. Gupta V, et al. Genetic Advances in Early-Onset Glaucoma. Eye (Lond). 2019; 33(11): 1791-1799.
4. OMIM Online Mendelian Inheritance in Man. Johns Hopkins University, Baltimore, MD. Entry No: 137760. 2020. Available at: https:// www.omim.org/entry/137760.
5. Myocilin. Genes and Diseases. National Center for Biotechnology Information. Available at: https://www.ncbi.nlm.nih.gov/gene/4653.
6. Myocilin gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/MYOC.
7. Scientific resources on glaucoma. Glaucoma Research Foundation. Available at: https:// www.glaucoma.org/gleams/genetic-testing-for-glaucoma.php.

These references provide information on the genetic causes and inheritance patterns associated with early-onset glaucoma. They also provide insight into the frequency and clinical characteristics of this rare condition. Additional articles and advocacy resources can be found by conducting a search on PubMed and other scientific databases.