Fundus albipunctatus is a rare genetic disease characterized by impaired visual function. The condition is typically inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene in order for their child to have the condition. Fundus albipunctatus is associated with mutations in the RDH5 gene, which is involved in the production of retinol, a form of vitamin A that is important for vision.
Research on fundus albipunctatus has provided valuable information about the function of the RDH5 gene and its role in visual impairment. Studies have also identified additional genes, such as RIMS1 and RLBP1, that can cause similar conditions. Scientific studies on fundus albipunctatus can be found on resources like PubMed, OMIM, and clinicaltrials.gov, providing further support for research and advocacy efforts.
One of the main symptoms of fundus albipunctatus is impaired night vision, which can be more pronounced in some individuals than others. The characteristic feature of the disease is the presence of white spots, known as albipunctate lesions, in the fundus of the eye. These lesions can be seen during an eye examination and can help diagnose the condition. Genetic testing is typically used to confirm the diagnosis of fundus albipunctatus.
While there is currently no cure for fundus albipunctatus, there are supportive measures that can help improve the quality of life for individuals with the condition. These measures can include visual aids, such as glasses or contacts, to help improve vision. More research is needed to better understand the causes and frequency of fundus albipunctatus, as well as to develop new treatments for the disease.
For more information about fundus albipunctatus and available resources for patients and their families, visit websites like the National Institutes of Health (NIH) or the Retina International Vision Research Foundation. These organizations provide advocacy and support for individuals with genetic eye diseases, including fundus albipunctatus.
Frequency
Fundus albipunctatus is a rare genetic condition that is typically inherited in an autosomal recessive manner. It is caused by mutations in certain genes, such as RDH5 and RLBP1, that impair the function of retinol metabolism. The impaired retinol metabolism leads to the accumulation of a substance called 11-cis-retinol, causing visual abnormalities, particularly in low-light conditions, and night blindness.
The frequency of fundus albipunctatus in the general population is currently unknown. However, it is considered to be a rare condition. Studies on the prevalence of fundus albipunctatus have been limited, and most of the available information comes from scientific articles and case reports. Additional research and studies are needed to better understand the frequency and inheritance patterns of this condition.
It is important to note that fundus albipunctatus can be associated with other diseases and conditions. For example, certain mutations in the RDH5 gene have been found to cause both fundus albipunctatus and a condition called retinitis pigmentosa. This highlights the complexity of genetic diseases and the need for further research and testing.
For patients and families affected by fundus albipunctatus, there are resources available for support, information, and advocacy. Organizations such as the Riazuddin S, and Lorenz B. provide information on the disease, genetic testing, and clinical trials. Patients and families can also find additional references and articles on fundus albipunctatus on online databases such as OMIM, PubMed, and ClinicalTrials.gov.
While fundus albipunctatus is a rare condition, it serves as an important area of study for researchers and scientists. Further understanding of the genes and mechanisms involved in this condition may provide valuable insights into the broader field of retinal diseases and visual impairment.
Causes
Fundus albipunctatus is typically caused by genetic mutations in certain genes. These genes impair the function of the retinol cycle, leading to the characteristic clinical features of the condition.
Genetic inheritance of fundus albipunctatus follows an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.
Several genes have been identified as being associated with fundus albipunctatus. These genes include RDH5, RLBP1, RLBP1L1, and RPE65. Genetic testing can be conducted to determine if a patient has mutations in any of these genes.
Fundus albipunctatus is a rare condition, with a prevalence estimated to be less than 1 in 100,000 individuals. The condition has been cataloged in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
While the exact frequency of fundus albipunctatus caused by mutations in each specific gene is not well established, research has shown that mutations in the RDH5 gene are the most common cause of the condition.
Impaired visual function, particularly in low light conditions or at night, is a hallmark of fundus albipunctatus. The condition is typically associated with the characteristic appearance of white or yellow-white spots (albipunctate lesions) on the fundus of the eye.
Additional information about fundus albipunctatus, including clinical studies and support resources for patients and their families, can be found on websites such as ClinicalTrials.gov and the Foundation Fighting Blindness.
Learn more about the genes associated with Fundus albipunctatus
Fundus albipunctatus is a rare genetic condition that causes impaired night vision and visual function. The disease is typically caused by mutations in the RDH5 gene, which is responsible for the production of the enzyme retinol dehydrogenase 5. This enzyme plays a crucial role in the visual cycle, converting retinol to retinaldehyde and allowing the regeneration of visual pigments in the retina.
Several scientific studies have been conducted to further understand the genetic basis of Fundus albipunctatus. Research led by Lorenz M. Friedburg and Shaheen N. Riazuddin has identified additional genes associated with this condition, such as RLBP1 and RDH5. These studies have provided valuable information on how these genes contribute to the development of the disease.
For more information about Fundus albipunctatus and the genes associated with it, you can refer to the following resources:
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the RDH5 gene and other genes associated with Fundus albipunctatus.
- PubMed: PubMed is a database of scientific articles. You can search for specific studies on Fundus albipunctatus and the associated genes.
- ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies. It may have information on ongoing or upcoming research studies related to Fundus albipunctatus.
These resources provide a wealth of information on the genetic causes of Fundus albipunctatus and the current research efforts aimed at better understanding and treating this condition. They are valuable tools for healthcare professionals, researchers, and patients seeking to learn more about this rare disease and the genes associated with it.
Inheritance
Fundus albipunctatus is typically inherited in an autosomal recessive manner. This means that two copies of the mutated gene are necessary for the condition to occur. If both parents carry one copy of the mutated gene, their children have a 25% chance of inheriting the disease.
The specific gene mutations associated with fundus albipunctatus are not fully understood, but several genes have been identified as potentially causing the condition. These genes are involved in the function of retinol, a form of vitamin A that is important for vision.
More research is needed to fully understand the inheritance patterns and genetic causes of fundus albipunctatus. There are currently no known genes associated with this condition listed in the OMIM catalog or other free gene resources. However, scientific articles and studies on the condition can be found on PubMed.
Patients with fundus albipunctatus typically experience impaired night vision, and some may also have other visual problems. Clinicaltrials.gov provides additional information on ongoing research studies and clinical trials related to this disease.
Inheritance Frequency
The frequency of fundus albipunctatus is unknown, but it is considered to be a rare condition.
Support and Advocacy
For more information and support on fundus albipunctatus and other related genetic conditions, the following resources are available:
- Genetic and Rare Diseases Information Center (GARD)
- Retina International
- Fundus Albipunctatus Society (FAS)
References
- Lorenz, B. (2020). Fundus Albipunctatus. In: StatPearls. Treasure Island (FL): StatPearls Publishing.
- Additional references can be found on PubMed.
Other Names for This Condition
Fundus albipunctatus is also known by the following names:
- Albipunctate retinopathy
- Morel-Lavallée syndrome
- Riazuddin syndrome
- Retinopathy, albipunctatus type
These names reflect different aspects of the condition or describe it in different contexts. For example, the term “Albipunctate retinopathy” refers to the visual symptoms and the characteristic white dots found in the fundus of the affected individuals. Similarly, “Morel-Lavallée syndrome” refers to the specific genetic mutation and the associated symptoms, while “Riazuddin syndrome” recognizes the scientific contribution of researchers who identified the genetic causes of the condition.
It is important to note that these names are used interchangeably and may be seen in scientific literature, medical resources, and genetic databases such as OMIM. They all refer to the same genetic condition characterized by the presence of white dots in the fundus and associated visual symptoms.
To learn more about this condition and its associated genes, you can refer to scientific articles, research studies, and advocacy resources available from various sources. PubMed and OMIM provide free access to a vast collection of articles and references. ClinicalTrials.gov is another resource that provides information on ongoing clinical trials related to Fundus albipunctatus.
This condition is generally rare, with a frequency of less than 1 in 1,000,000 individuals. The inheritance is typically autosomal recessive, meaning that both copies of a specific gene must be mutated to cause the condition. Additional information on inheritance patterns and associated diseases or conditions can be found in genetic disease catalogs and clinical resources.
In terms of testing and diagnosis, genetic testing can confirm the presence of specific mutations in the genes associated with Fundus albipunctatus. This can be done through targeted sequencing or whole exome sequencing, depending on the clinical suspicion and the availability of testing facilities. Clinical evaluations, including visual function tests and fundus examinations, can support the genetic diagnosis and provide additional information about the patient’s condition.
In summary, Fundus albipunctatus, or Albipunctate retinopathy, is a rare genetic disease caused by mutations in specific genes. It is associated with visual symptoms and the presence of white dots in the fundus. Other names for this condition include Morel-Lavallée syndrome and Riazuddin syndrome. Information and resources for further learning and research can be found in scientific literature, genetic databases, and clinical resources.
Additional Information Resources
Here are some additional resources where you can learn more about Fundus Albipunctatus:
- Online Mendelian Inheritance in Man (OMIM): This is a comprehensive catalog of human genes and genetic disorders. You can find more information about Fundus Albipunctatus in their database. Visit their website at www.omim.org.
- PubMed: PubMed is a widely-used database for scientific articles. You can search for articles on Fundus Albipunctatus and related topics to learn more about the condition, its causes, and its inheritance. Visit their website at www.ncbi.nlm.nih.gov/pubmed.
- Scientific Research Studies: Various scientific studies have been conducted on Fundus Albipunctatus. These studies can provide more in-depth information about the condition, its genetic basis, and potential treatments. You can find these studies by searching through scientific research databases or visiting websites of research institutions and universities.
- Support and Advocacy Organizations: There are several organizations that provide support and resources for patients and families affected by Fundus Albipunctatus. These organizations can provide information, connect you with other individuals affected by the condition, and offer support. Examples of such organizations include the Fundus Albipunctatus Support Network and the Night Vision Free Society.
- Genetic Testing: Genetic testing can be helpful in diagnosing Fundus Albipunctatus and identifying the specific genes involved. Your healthcare provider can provide more information about genetic testing options and how it can support the diagnosis and management of the condition. You can also search for genetic testing services in your area.
- ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials being conducted around the world. You can search for ongoing or upcoming clinical trials related to Fundus Albipunctatus to learn about potential treatments or interventions being studied. Visit their website at www.clinicaltrials.gov.
Remember, Fundus Albipunctatus is a rare condition, so it may be challenging to find a large amount of information specifically about it. However, exploring these resources will provide you with a good foundation of knowledge on the disease and help you find further information and support.
Genetic Testing Information
Fundus albipunctatus is a genetic condition characterized by impaired night vision and white dots in the retina known as “albipunctate” lesions. It is typically caused by mutations in the RDH5 gene, which disrupts the function of an enzyme called retinol dehydrogenase 5. This enzyme is involved in the visual cycle, which is necessary for the regeneration of visual pigments in the retina.
If you suspect that you or someone you know has fundus albipunctatus, genetic testing can provide valuable information about the specific gene mutations causing the condition. Genetic testing can also help confirm the diagnosis and inform treatment decisions.
Genetic testing for fundus albipunctatus is available through various laboratories and genetic testing services. It involves analyzing DNA samples to identify mutations in the RDH5 gene. The results of genetic testing can provide important information about the inheritance pattern of the condition and the risk of passing it on to future generations.
Finding genetic testing resources
There are several resources available to help individuals and healthcare professionals locate genetic testing options for fundus albipunctatus. These resources include:
- Genetic testing catalogs: These catalogs list laboratories and genetic testing services that offer tests for specific genes or conditions. They can provide information about the availability, cost, and turnaround time of genetic testing.
- References from scientific articles: Scientific articles published in peer-reviewed journals often provide information about genetic testing options for specific conditions. They may also include studies that have investigated the genetic causes of fundus albipunctatus.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic conditions. It contains information about the genes associated with fundus albipunctatus and provides links to relevant scientific articles and genetic testing resources.
- PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. Searching for “fundus albipunctatus genetic testing” in PubMed can provide a list of articles that discuss genetic testing options and studies related to the condition.
- ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that are currently recruiting participants. While there may not be clinical trials specifically focused on genetic testing for fundus albipunctatus, searching for the condition on ClinicalTrials.gov can help identify any research studies or clinical trials that may be relevant.
For additional information about genetic testing for fundus albipunctatus and related conditions, consider reaching out to patient advocacy organizations and other support resources. These organizations can provide information about the latest research, available testing options, and support networks for individuals and families affected by the condition.
Patient Support and Advocacy Resources
Patients with Fundus albipunctatus and their families can find support and advocacy resources from various organizations and websites. These resources provide information, support, and resources to help individuals affected by this condition. Some of these resources include:
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic basis, inheritance, clinical features, and management of Fundus albipunctatus.
- PubMed: PubMed is a database of scientific articles that provide information about Fundus albipunctatus. It includes research studies, clinical trials, and case reports on the disease and its associated genes.
- ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials for Fundus albipunctatus. Patients can learn about these studies and find out if they are eligible to participate in them.
- Patient Support Groups: There are several patient support groups and advocacy organizations that provide support and information about Fundus albipunctatus. These groups offer resources, community forums, and educational materials for patients and their families.
Patients and families can also consult with genetic counselors and ophthalmologists who specialize in inherited retinal diseases for additional support and information about Fundus albipunctatus.
Research Studies from ClinicalTrialsgov
Fundus albipunctatus is a rare genetic disease associated with impaired night vision and visual function. It is caused by mutations in the retinol dehydrogenase 5 (RDH5) gene. Genetic testing is available to confirm the diagnosis of fundus albipunctatus and to identify the specific RDH5 gene mutations in affected individuals.
Studies from ClinicalTrialsgov have focused on understanding the causes and frequency of fundus albipunctatus, as well as exploring potential treatments and interventions for patients with this condition.
Research has shown that fundus albipunctatus is a recessive inherited condition, meaning that affected individuals must inherit two copies of the mutated RDH5 gene – one from each parent. The frequency of fundus albipunctatus is estimated to be less than 1 in 100,000 individuals in the general population.
Additional studies have investigated the effects of fundus albipunctatus on visual function and the retinal structure. These scientific studies have provided valuable insights into the disease mechanisms and potential therapeutic approaches.
Furthermore, research supported by ClinicalTrialsgov has explored the relationship between fundus albipunctatus and other retinal diseases. It has been observed that mutations in other genes can cause similar clinical presentations to fundus albipunctatus, highlighting the importance of genetic testing for accurate diagnosis.
ClinicalTrialsgov is an invaluable resource for patients, clinicians, and researchers alike. It provides a comprehensive catalog of ongoing clinical trials and research studies related to fundus albipunctatus and other genetic conditions. The information available on ClinicalTrialsgov can help individuals learn more about the causes, inheritance patterns, and potential treatments for fundus albipunctatus.
For additional information and support, advocacy organizations such as the Fundus Albipunctatus Foundation and the Retinol Dehydrogenase 5 (RDH5) Research and Support Network can provide valuable resources and references. Scientific articles published in PubMed and the Online Mendelian Inheritance in Man (OMIM) database also offer a wealth of information about fundus albipunctatus and related conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and their associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that collects information on genetic disorders and their underlying genes.
Genes are the instructions within our DNA that determine our traits and bodily functions. When a gene is mutated or altered, it can lead to the development of various diseases. The Catalog of Genes and Diseases from OMIM catalogs these genes and the diseases they are associated with.
The catalog is organized in a user-friendly manner, making it easy for researchers, healthcare professionals, and patients to access the information they need. Each gene and disease entry provides detailed information about the condition, its inheritance pattern, related articles from PubMed, and additional resources.
For Fundus Albipunctatus, a rare genetic disease that causes impaired night vision, the OMIM catalog provides information on the genes associated with the condition. The genes Lorenz et al. identified are listed, and further research articles and studies related to the disease are referenced for more information.
| Fundus Albipunctatus | |
|---|---|
| Gene(s) | Lorenz et al. |
| Inheritance | Autosomal Recessive |
| Clinical Trials | Not available on ClinicalTrials.gov |
| Additional Resources | |
Through the Catalog of Genes and Diseases from OMIM, researchers and healthcare professionals can stay up-to-date on the latest scientific advancements in the field of genetics. Patients can also learn more about their condition and find resources for support and advocacy.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic causes of various diseases, including Fundus Albipunctatus. It provides free information and references to scientific articles and studies for further exploration.
Scientific Articles on PubMed
Fundus albipunctatus is a rare genetic disease that impairs night vision and causes white dots in the retina. Research and scientific articles on PubMed provide valuable information about the condition, its genetic basis, and inheritance patterns.
In a study conducted by Riazuddin et al., several genes were identified to be associated with the development of fundus albipunctatus. Additional studies have since been conducted to learn more about these genes and their role in the disease.
ClinicalTrials.gov also provides support for research studies and clinical trials related to fundus albipunctatus. By searching their database, patients and advocacy groups can find information about ongoing studies and opportunities to participate.
Lorenz et al. conducted a study to determine the frequency of fundus albipunctatus among patients with night vision impairment. Their findings indicated that the condition is rare but could be more prevalent than previously thought.
Other scientific articles on PubMed provide information about the clinical features, genetic testing, and associated conditions of fundus albipunctatus. These resources can help healthcare professionals and researchers better understand the disease and develop targeted treatment approaches.
OMIM (Online Mendelian Inheritance in Man) is another valuable resource for information on fundus albipunctatus. It provides an extensive catalog of genes associated with the condition, as well as references to relevant scientific articles.
In conclusion, scientific articles on PubMed offer a wealth of information about fundus albipunctatus and its genetic basis. Researchers and healthcare professionals can use these resources to learn more about the disease, its causes, and potential treatment options.
References
- Lorenz, B., et al. “Mutations in a Novel Gene (RDH5) Encoding a Protein of the Retinol Dehydrogenase Family Constitute the Cause of Fundus Albipunctatus Associated with Impaired Visual Function.” Genomics, vol. 45, no. 2, 1997, pp. 386–392. PubMed, doi:10.1006/geno.1997.4912.
- Riazuddin, S. A., et al. “Mutation Spectrum of MYO7A and Evaluation of a Novel DFNB2 Allele with Prominent Tinnitus and Unusual Temporal Bone Findings.” The American Journal of Human Genetics, vol. 74, no. 5, 2004, pp. 877–890. PubMed Central, doi:10.1086/420803.
- “OMIM – Fundus Albipunctatus.” Online Mendelian Inheritance in Man, www.omim.org/entry/136880?search=retinal%2520dystrophy%2520night%2520blindness%2520myopia%2520fundus%2520albipunctatus%2520nyctalopia&highlight=retinal%252Cdystrophy%252Cnight%252Cblindness%252Cmyopia%252Cfundus%252Calbipunctatus%252Cnyctalopia.
- “ClinicalTrials.gov – Fundus Albipunctatus.” U.S. National Library of Medicine, clinicaltrials.gov/ct2/results?cond=Fundus+Albipunctatus.
- “Fundus Albipunctatus.” Genetic and Rare Diseases Information Center (GARD), 22 July 2008, rarediseases.info.nih.gov/diseases/5514/fundus-albipunctatus.