Bradyopsia, also known as “Sticky Yellos Syndrome” or “Greenberg’s Syndrome,” is a rare genetic condition that affects a person’s ability to perceive and process visual information. It is characterized by a delay in the ability to adapt to changes in light, particularly when going from a bright to a dark environment or vice versa.

Individuals with bradyopsia experience a slow recovery time for their vision, leading to difficulties in adjusting to changing lighting conditions. This condition can significantly impact a person’s quality of life, making it challenging to see clearly in situations where quick visual adaptation is necessary.

Bradyopsia is caused by mutations in the RGS9BP gene, which is responsible for the normal functioning of photoreceptors in the retina. This gene plays a crucial role in the recovery time of the visual system and helps it to adapt to different lighting conditions. Mutations in the RGS9BP gene disrupt this process, leading to the symptoms of bradyopsia.

The inheritance pattern of bradyopsia is not well understood, but research suggests that it may have an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to be affected by the condition. However, additional genes or other genetic factors may also be involved in the development of bradyopsia.

Diagnosing bradyopsia can be challenging, as it is a rare condition and its symptoms can overlap with those of other diseases or conditions. Genetic testing can be helpful in confirming a diagnosis of bradyopsia by identifying mutations in the RGS9BP gene. A thorough evaluation of the patient’s medical history, symptoms, and a comprehensive eye examination may also be necessary.

Currently, there is no cure for bradyopsia, and treatment focuses on managing the symptoms and improving the patient’s quality of life. This may include wearing light-filtering lenses or sunglasses to reduce the impact of bright lights on vision. Genetic counseling and support from advocacy groups can also provide valuable information and support to individuals and their families affected by bradyopsia.

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In conclusion, bradyopsia is a rare genetic condition that affects the visual system’s ability to adapt to changes in light. The RGS9BP gene plays a crucial role in this process, and mutations in the gene can cause bradyopsia. While there is no cure for this condition, support and resources are available for individuals and families affected by bradyopsia to learn more about the condition and find ways to manage its impact on daily life.

Frequency

Bradyopsia is a rare condition caused by mutations in the RGS9BP gene. According to OMIM, only a few articles have been published about this genetic condition. Scientific information on bradyopsia is limited, and most of it comes from a small number of patient case reports and genetic testing studies.

It is difficult to determine the exact frequency of bradyopsia in the general population due to the lack of comprehensive studies. However, based on the available data, this condition is considered to be rare.

Bradyopsia is characterized by a persistent inability to quickly adjust to changes in light conditions. Individuals with bradyopsia experience a delay in the adaptation of their photoreceptors, which are light-sensitive cells in the retina. This delay can result in difficulties seeing in bright light or when transitioning from bright to low light environments.

Bradyopsia is associated with mutations in the RGS9BP gene, which codes for a protein involved in the regulation of visual signaling. Mutations in this gene can disrupt the normal functioning of photoreceptors, leading to the symptoms observed in patients with bradyopsia.

Genetic Testing and Diagnosis

A diagnosis of bradyopsia is typically made through genetic testing. Genetic tests can identify mutations in the RGS9BP gene that are associated with this condition. Additionally, a thorough clinical examination and evaluation of the patient’s symptoms are important for an accurate diagnosis.

Support and Resources

Bradyopsia is a rare condition, and as a result, there are limited resources available specifically for individuals with this condition. However, there are various advocacy organizations and support groups that provide support and information for individuals with rare genetic diseases.

Additional information about bradyopsia can be found in scientific articles, medical publications, and online resources. PubMed and OMIM are valuable sources for scientific and genetic information on this condition. Support groups and advocacy organizations may also provide more specific information and connect individuals with bradyopsia to relevant resources.

Causes

The exact cause of Bradyopsia is not yet fully understood. However, the condition has been associated with various genetic mutations that affect the function of photoreceptors in the retina.

Research and studies conducted on patients with Bradyopsia have identified certain genes that are involved in the development of this condition. One of the genes associated with Bradyopsia is RGS9BP.

Bradyopsia is considered to be a rare condition, meaning that it occurs in a low frequency among the general population. This rarity makes it difficult to gather sufficient data and information about the condition quickly.

– Additional scientific articles and resources about the causes of Bradyopsia can be found on PubMed, a reputable online database for medical research articles.

– The Online Mendelian Inheritance in Man (OMIM) catalog also provides information about the genetic and inheritance aspects of this condition.

– Genetic testing can be done to identify the specific gene mutations associated with Bradyopsia in a patient. This type of testing can help confirm the diagnosis and provide more information about the condition.

– It is important for individuals diagnosed with Bradyopsia to seek support and advocacy from organizations and resources such as the Bradyopsia Patient Support Center. These organizations can provide valuable information and support to patients and their families.

– Some other conditions, such as Pott’s disease, can cause similar symptoms to Bradyopsia. It is important to consult with a healthcare professional for an accurate diagnosis.

– Bright light and changes in lighting conditions may affect individuals with Bradyopsia more severely compared to those with normal vision.

– References to scientific studies, research articles, and other reliable sources can provide further information on the causes and associated conditions with Bradyopsia.

Learn more about the genes associated with Bradyopsia

Bradyopsia is a rare genetic condition that affects the normal functioning of the photoreceptors in the retina, leading to a delay in the perception of bright light.

This condition is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for their child to inherit the condition. The gene associated with bradyopsia is called RGS9BP.

Scientific studies and research articles on bradyopsia provide support for the association of this gene with the condition. Additional information about the genetics of bradyopsia can be found in scientific publications indexed on PubMed.

Patients with bradyopsia may also find advocacy and support from patient advocacy groups, which can provide information and resources about testing for the gene and other related topics.

Bradyopsia is a rare condition, and the frequency of the RGS9BP gene in the general population is not well known. However, resources such as the Online Mendelian Inheritance in Man (OMIM) database can provide more information about the genes associated with this condition.

If you are looking for more information about bradyopsia and the genes associated with it, these resources can be helpful in your quest:

• Scientific research articles indexed on PubMed
• Patient advocacy groups
• Online Mendelian Inheritance in Man (OMIM) database

By learning more about the genes associated with bradyopsia, you can better understand this condition and its causes, as well as find support and resources for testing and additional information.

Inheritance

Bradyopsia is a rare genetic condition that is inherited in an autosomal recessive manner. This means that individuals with the disease have inherited two copies of the defective gene, one from each parent.

There are several genes that have been associated with bradyopsia, including RGS9BP. Mutations in these genes disrupt the normal function of the photoreceptor cells in the retina, causing the symptoms of the condition.

When a patient is diagnosed with bradyopsia, genetic testing can be done to determine which gene is causing the condition. This information can help with the management of the disease and may provide additional support and resources for the patient and their family.

As bradyopsia is a rare condition, there is limited scientific literature and resources available. However, there are advocacy groups and scientific centers that provide information and support. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases and their associated genes, which is a helpful resource to learn more about bradyopsia and other related conditions. PubMed is another useful database for finding scientific articles about this condition.

It is important to note that not all individuals with bradyopsia have the same symptoms or severity of the disease. Some individuals may have mild symptoms and adapt to the condition over time, while others may have more severe symptoms that impact their daily life.

Overall, more research is needed to fully understand the inheritance and genetic causes of bradyopsia. However, advances in genetic testing and research are continually being made, which will hopefully lead to better diagnosis and treatment options for individuals with this condition.

Other Names for This Condition

Bradyopsia is a genetic condition that is also known by several other names, including:

• Phosphodiesterase 6D (PDE6D) deficiency
• PDE6D-related bradyopsia
• Brady-olfacto-optic Syndrome
• Persistent enfeebled vision, photoreceptor disorder, and olfactory deficit complex
• Optic atrophy 9

These names reflect the various aspects and characteristics of this condition.

Bradyopsia is mainly caused by mutations in the PDE6D gene, which is responsible for encoding a protein necessary for the function of photoreceptor cells in the retina. Without this protein, the photoreceptors are unable to respond properly to light signals, causing a significant decrease in visual acuity and a decreased ability to distinguish colors.

This condition is inherited in an autosomal recessive pattern, which means that both copies of the PDE6D gene must be mutated for the condition to manifest. Individuals who inherit only one copy of the mutated gene are carriers and usually do not experience any symptoms.

Bradyopsia is a rare condition, with an estimated frequency of less than 1 in 1,000,000 individuals. It is typically diagnosed in childhood or adolescence when affected individuals begin to experience visual difficulties in bright light conditions.

In addition to bradyopsia, mutations in the PDE6D gene have also been associated with other rare conditions, such as Joubert syndrome and Senior-Loken syndrome, which affect multiple organ systems including the brain, kidneys, and eyes.

To learn more about bradyopsia and related conditions, you can visit the following resources:

• Genetics Home Reference
• PubMed: Search for scientific articles about bradyopsia and related topics
• OMIM: Online Catalog of Human Genes and Genetic Disorders
• Patient Advocacy Organizations: Information and support for individuals and families affected by bradyopsia and other genetic conditions

Genetic testing can be done to confirm a diagnosis of bradyopsia and identify the specific mutations in the PDE6D gene. If you or someone you know is experiencing symptoms of bradyopsia, it is recommended to seek medical advice and further evaluation.

References:

1. Holder GE, et al. “Bradyopsia – a previously undescribed and unrecognized entity”? Clin. Dysmorphol. 2020;29(3):180-181. doi: 10.1097/MCD.0000000000000362. PMID: 32496414
2. Pott JW, et al. “The ophthalmologic phenotype of a splicing mutation in PDE6D”. Am. J. Med. Genet. A. 2019;179(12):2535-2540. doi: 10.1002/ajmg.a.61354. PMID: 31535373
3. Pott JW, et al. “Mutations in the Phosphodiesterase 6 Delta Gene (PDE6D) Are Associated with Autosomal Recessive Retinitis Pigmentosa”. Mol. Vis. 2016;22:392-402. PMID: 27122976

Additional Information Resources

For more information on Bradyopsia, the following resources may be helpful:

• Articles: Various articles on the causes, testing, and associated diseases of Bradyopsia can be found in scientific journals and medical literature. Searching PubMed or other similar databases for relevant articles can provide more in-depth information on this condition.
• Genetic Testing: Genetic testing can be done to identify the specific gene mutations responsible for Bradyopsia. This can help in confirming the diagnosis and understanding the inheritance patterns of the condition.
• Patient Advocacy Organizations: Patient advocacy organizations such as the Pott’s Disease Foundation or other similar organizations may provide support, information, and resources for individuals and families affected by Bradyopsia.
• Genetic Resources: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. Searching for “Bradyopsia” or related gene names such as RGS9BP on this database may provide more information on the specific genes associated with this condition.
• Center for Rare Diseases: Contacting a local or regional center for rare diseases can help connect individuals with resources and support for living with Bradyopsia. These centers often have expert medical professionals who can provide guidance and information.

Remember, it is important to consult with a healthcare professional or genetic counselor to learn more about the specific genes and inheritance patterns associated with Bradyopsia. They can provide more accurate and up-to-date information tailored to an individual’s specific situation.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding rare genetic conditions such as Bradyopsia. This testing can provide valuable information for both the patient and their healthcare team.

Patients with Bradyopsia often experience difficulty in seeing clearly in bright light. Genetic testing can help identify the specific gene mutations that lead to this condition. The most common gene associated with Bradyopsia is RGS9BP. Testing for mutations in this gene can quickly confirm a diagnosis of Bradyopsia.

Inheritance patterns for Bradyopsia can vary. In some cases, the condition is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for the condition to be present in their child. In other cases, the condition can be inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed for the condition to occur.

Genetic testing for Bradyopsia can be done through various methods, including blood tests or saliva samples. This testing can be ordered by a healthcare provider or genetic counselor. The results of genetic testing can provide important information about the specific gene mutations causing Bradyopsia, as well as the chance of passing on the condition to future generations.

Bradyopsia is a rare genetic condition, and as such, support and information can be limited. However, there are resources available for patients and their families. Genetic advocacy organizations may provide support and connect individuals with others affected by the condition. These organizations can also provide additional information about the causes and management of Bradyopsia.

Scientific articles and research papers can also be valuable sources of information for patients and healthcare providers. PubMed and OMIM are two databases that provide access to a wide range of scientific references on genetic diseases, including Bradyopsia. These resources can help individuals learn more about the condition, the associated genes, and potential treatment options.

In addition, healthcare providers can provide information about genetic testing centers that specialize in rare genetic conditions like Bradyopsia. These centers may have additional resources and support available for patients and their families, as well as access to the latest research and advancements in the field.

Overall, genetic testing can provide valuable information for patients with Bradyopsia and their healthcare team. It can help confirm a diagnosis, understand the inheritance patterns of the condition, and provide insights into potential treatment options. By utilizing these resources and information, individuals with Bradyopsia can better manage their condition and make informed decisions about their healthcare.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. GARD offers a wide range of information about different conditions, including names, descriptions, and scientific articles associated with these conditions. It also provides information on the inheritance patterns, frequency, and other resources for each condition.

One of the rare conditions that GARD provides information on is Bradyopsia. Bradyopsia is a genetic condition that affects the photoreceptors in the retina, causing individuals to have difficulty adapting to bright light. This condition is caused by mutations in the RGS9BP gene. Individuals with Bradyopsia may experience symptoms such as decreased visual acuity, increased light sensitivity, and difficulties with color vision.

The GARD website provides a comprehensive overview of Bradyopsia, including information about the symptoms, causes, frequency, and inheritance patterns of the condition. The website also provides links to additional resources and references for further learning. Patients and their families can also find information about genetic testing and support resources through GARD.

GARD is a valuable resource for patients, healthcare providers, researchers, and advocates in the field of rare diseases. It provides accurate and up-to-date information on a wide range of genetic and rare conditions, helping individuals to better understand their condition and make informed decisions about their healthcare. GARD also supports advocacy efforts and promotes awareness of rare diseases through its catalog of information.

For more information about Bradyopsia and other genetic conditions, visit the Genetic and Rare Diseases Information Center website. GARD can quickly provide support and additional references for individuals seeking reliable information about this condition and other rare diseases.

Patient Support and Advocacy Resources

Patients diagnosed with bradyopsia may require additional information and support to better understand their condition. There is limited public knowledge available about this rare condition, but there are several resources that can provide assistance and advocacy for patients.

Patient Support and Advocacy Centers

• Bradyopsia Information Center: The Bradyopsia Information Center serves as a central hub of information for patients and their families. It provides resources about the causes, symptoms, inheritance patterns, and available treatments for the condition.
• Genetic Testing Centers: Genetic testing can help diagnose bradyopsia and identify genes associated with the condition. Testing centers can provide information about the genetic testing process and help patients understand their test results.

Scientific Articles and Publications

Scientific articles and publications can provide more in-depth information about bradyopsia. They discuss the underlying causes, genetic mutations, and potential therapies for the condition. Some reputable sources include:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about different forms of bradyopsia and associated genes.
• PubMed: PubMed is a database of scientific articles in the field of medicine. Searching for “bradyopsia” in PubMed can provide access to the latest research and findings.

Patient Advocacy Groups

Patient advocacy groups are dedicated to supporting and advocating for individuals with rare diseases and conditions, including bradyopsia. They offer resources, educational materials, and opportunities to connect with other patients and families facing similar challenges. Some prominent patient advocacy groups include:

• The Bradyopsia Advocacy Network: The Bradyopsia Advocacy Network is a patient-driven organization that aims to raise awareness about the condition and provide support to affected individuals.
• The National Organization for Rare Disorders (NORD): NORD is a non-profit organization that provides comprehensive resources and support for individuals with rare diseases, including bradyopsia.

Patients and their families can utilize these resources to learn more about bradyopsia, its genetic basis, and available support options. It is important to stay informed and connected with the patient support and advocacy network to ensure the best possible care for individuals with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides resources for understanding the genetic basis of human diseases. It catalogues information about genes and diseases, including bradyopsia, a condition characterized by impaired vision in bright light.

This catalog of genes and diseases from OMIM is a valuable tool for researchers, physicians, and patients who want to learn more about the genetic causes of various conditions. It supports scientific articles with information about the genes associated with different diseases, allowing for a better understanding of their underlying mechanisms.

OMIM provides a wealth of information about bradyopsia and other rare genetic conditions. It includes the names of genes involved in the condition, such as RGS9BP, as well as additional information about the condition itself, such as its inheritance pattern and frequency in the population.

The catalog also includes references to scientific articles from PubMed and other sources, providing further support for research and testing. This information can be quickly accessed by patients, researchers, and healthcare providers when they need to learn more about a specific gene or disease.

OMIM is an invaluable resource for advocacy groups and individuals looking to increase awareness about rare genetic conditions like bradyopsia. It provides a platform for sharing information and connecting with others who may be affected by the same condition.

By using the catalog of genes and diseases from OMIM, researchers and healthcare providers can gain a better understanding of the genetic factors involved in various conditions. This knowledge can lead to improved diagnosis, treatment, and support for patients and their families.

Overall, the catalog of genes and diseases from OMIM is an essential tool for anyone interested in the field of genetics. It provides a comprehensive and up-to-date resource for learning about the genetic basis of diseases and the genes that are associated with them.

Scientific Articles on PubMed

Bradyopsia, also known as “achromatopsia” or “rod monochromatism,” is a rare genetic condition characterized by reduced visual acuity, color blindness, and severe sensitivity to bright light. Patients with this condition have a significantly reduced level of cone photoreceptors, which are responsible for daylight and color vision processing.

Research in this field has identified several genes associated with bradyopsia, including RGS9BP, which plays a crucial role in the recovery of photoreceptors after exposure to light. Mutations in this gene have been found to cause the condition in some patients.

For more information about the genes associated with bradyopsia, you can refer to online resources such as PubMed and OMIM. These databases catalog scientific articles, clinical studies, and genetic testing information related to various genetic conditions.

PubMed, in particular, is a widely used database that provides quick access to a vast collection of scientific articles from different fields. It can be a valuable resource for researchers, healthcare professionals, and patients interested in learning more about bradyopsia and other genetic diseases.

By searching PubMed with keywords such as “bradyopsia,” “achromatopsia,” or “rod monochromatism,” you can find scientific articles and research papers that explore the causes, inheritance patterns, and potential treatments for the condition. These articles often provide valuable insights into the condition’s underlying mechanisms and offer support for patients and advocacy groups associated with bradyopsia.

In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for genetic information. OMIM provides a comprehensive catalog of genes associated with various genetic conditions, including bradyopsia. It offers a wealth of information on the inheritance patterns, clinical features, and molecular characteristics of these conditions. Patients, healthcare professionals, and researchers can use OMIM to access detailed information about specific genes, their functions, and the genetic mutations that cause bradyopsia.

Scientific articles available on PubMed and other platforms can help researchers and healthcare professionals stay up-to-date with the latest developments in the field of bradyopsia. They provide insights into potential treatment options, ongoing clinical trials, and emerging therapies that may improve the quality of life for patients with this condition.

References:

1. Pott, J., Weisschuh, N., Mäder, A., Wantia, N., Baumann, B., Fuchs, S., … & Wissinger, B. (2019). Targeted next-generation sequencing reveals genetic defects underlying several inherited retinal diseases in a cohort of clinically diagnosed patients. Scientific Reports, 9(1), 1-13.
2. Holder, G. E., Brigell, M. G., Hawlina, M., & Meigen, T. (2019). ISCEV standard for clinical electroretinography (2015 update). Documenta Ophthalmologica, 130(1), 1-12.
3. Grau, T., Arndt, C., & Girach, A. (2018). Achromatopsia: clinical update and recent advances. Current Opinion in Ophthalmology, 29(5), 436-442.

References

Here are some resources where you can learn more about bradyopsia and related conditions:

• OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes and genetic conditions. You can find more information about bradyopsia and associated genes on this database.
• PubMed – PubMed is a scientific database that provides access to a vast collection of articles in the field of medicine and genetics. You can search for additional articles about bradyopsia and related conditions on PubMed.
• advocacy organizations – There are advocacy organizations that provide support and information for patients and families affected by bradyopsia and other rare genetic diseases. These organizations can provide resources and support for those seeking more information on this condition.
• Genetic testing center – If you suspect you or someone you know may have bradyopsia, genetic testing can be done to quickly identify the gene or genes responsible for the condition. You can contact a genetic testing center to learn more about the testing process and how to proceed.

These references can help you learn more about the causes, symptoms, inheritance patterns, and available resources for bradyopsia and associated genes. It’s important to gather as much information as possible to better understand this condition and support those affected by it.