Leber hereditary optic neuropathy

Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial genetic disorder. It is characterized by the progressive loss of vision, typically affecting young adults, mostly males. LHON is named after Theodor Leber, a German ophthalmologist, who first described the condition in 1871.

LHON is caused by mutations in the mitochondrial genome, specifically in genes MT-ND1, MT-ND4, MT-ND4L, and MT-ND6. These genes are responsible for producing proteins needed for the function of mitochondria in the optic nerve. The specific mechanisms by which these mutations lead to vision loss are still unknown.

The frequency of LHON varies among different populations, with the estimated prevalence of about 1 in 30,000 individuals worldwide. LHON is associated with a central vision loss, resulting in a severe reduction in visual acuity. The age of onset is typically in the second or third decade of life. Affected individuals often experience sudden, painless vision loss in one eye, followed by involvement of the other eye within weeks or months.

Diagnosis of LHON can be confirmed through genetic testing, which can detect the presence of the responsible mutations. The genetic cause can be confirmed if one of the common mutations in MT-ND1, MT-ND4, or MT-ND6 is present in the patient’s mitochondrial DNA. Testing for other genes associated with LHON, such as OPA1, OPA3, and OPA8, may be done if no primary mutation is found.

Currently, there is no cure for LHON. Treatment options are limited and mainly focus on supportive measures to maintain visual function and quality of life. However, there are ongoing clinical trials and research studies aimed at finding potential therapies for this condition.

For individuals with LHON and their families, there are various resources available, such as patient advocacy groups, support centers, and additional information on LHON. The OMIM database, PubMed, and the Bartnik LHON Catalog are valuable sources for scientific articles, studies, and case reports related to LHON. These resources provide a wealth of information to learn more about the condition and the latest research developments.

Frequency

Leber hereditary optic neuropathy (LHON) is a rare genetic condition characterized by the loss of central vision. It is caused by mutations in mitochondrial genes, specifically the MT-ND1, MT-ND4, and MT-ND6 genes. LHON primarily affects the optic nerve, leading to progressive vision loss. It is more often observed in males than females.

The frequency of LHON varies across different populations. According to scientific research studies, LHON is estimated to occur in about 1 in 30,000 individuals in the general population. However, the exact frequency may be higher due to underdiagnosis and underreporting.

LHON is inherited in a mitochondrial pattern, meaning it is passed down from the mother to her children. This type of inheritance is different from the more familiar dominant or recessive patterns seen in diseases caused by mutations in nuclear genes. Mitochondrial DNA is only passed on through the mother, so only females can pass the mutation to their children. However, males who inherit the mutation are more likely to develop symptoms of LHON than females.

In some cases, LHON may be caused by additional rare genetic mutations on the X chromosome. The presence of these additional mutations can contribute to the variability in the frequency of LHON among affected individuals. Ongoing genetic research aims to learn more about these genes and their role in the development of LHON.

To diagnose LHON, genetic testing is often recommended. Various genetic testing resources are available, including the OMIM catalog, which provides information on genes associated with LHON. PubMed and other scientific databases also offer a wealth of research articles on LHON. Additionally, clinicaltrials.gov can help individuals find information on ongoing clinical trials and advocacy resources for LHON patients.

Support and patient advocacy groups, such as the Leber’s Hereditary Optic Neuropathy Society and the LHON Project, offer resources and support for individuals affected by LHON. These organizations aim to raise awareness about the condition and contribute to the advancement of research on LHON and related diseases.

Causes

Leber hereditary optic neuropathy (LHON) is caused by specific mutations in genes involved in the production of energy in mitochondria, the powerhouses of cells. LHON is primarily caused by mutations in the MT-ND1, MT-ND4, and MT-ND6 genes, which are located in the mitochondrial DNA (mtDNA).

LHON is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene to develop the condition. However, LHON exhibits incomplete penetrance, which means that not all individuals with the mutation will experience vision loss. It is not fully understood why some individuals with the mutations develop LHON while others do not.

The exact mechanism by which these gene mutations lead to optic neuropathy is not well understood. It is believed that the mutations interfere with the function of the mitochondrial electron transport chain, leading to reduced energy production in the optic nerve. This results in the death of the nerve cells, leading to the characteristic vision loss seen in LHON.

While LHON primarily affects males, females can also be affected, although to a lesser extent. The reason for the male predominance is unclear, but it is thought to be related to the sex-linked inheritance of the mtDNA. Studies have suggested that hormonal factors may play a role in the expression of the disease in females.

In addition to the primary LHON-causing genes, other genetic and environmental factors may also contribute to the development of LHON. Rare mutations in other mitochondrial genes have been associated with LHON-like optic neuropathy. Furthermore, certain nuclear genes have been found to interact with the mitochondrial genes involved in LHON, potentially modulating the severity of the disease.

Overall, the causes of LHON are multifactorial and require further research to fully understand the complex interactions between genetic and environmental factors.

References:

Bartnik, E., & Bulinski, K. (2015). Leber’s hereditary optic neuropathy-causative mutations in mitochondrial complex (genes and pathways). Neurologia i neurochirurgia polska, 49(2), 129-133. PMID: 25651191
Leber Hereditary Optic Neuropathy. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy#genes
Leber Hereditary Optic Neuropathy. (n.d.). In OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/535000
Leber Hereditary Optic Neuropathy. (n.d.). In Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/10357/leber-hereditary-optic-neuropathy#ref_4650

Learn more about the genes and chromosome associated with Leber hereditary optic neuropathy

Leber hereditary optic neuropathy (LHON) is a rare genetic condition that primarily affects the optic nerve, causing vision loss. LHON is typically inherited in a mitochondrial pattern, which means it is passed down from the mother to her children. However, there are also rare cases where LHON is inherited through an autosomal dominant pattern.

There are three main genes associated with LHON: MT-ND1, MT-ND4, and MT-ND6. These genes provide instructions for making proteins involved in oxidative phosphorylation, a process that produces energy for the cell. Mutations in these genes can disrupt the normal functioning of the mitochondria and lead to the vision loss associated with LHON.

The gene mutations associated with LHON are located on the mitochondrial chromosome, which is separate from the nuclear chromosomes. The mitochondrial chromosome is passed down from the mother to both males and females, but only the mother can pass on the LHON gene mutations to her offspring. This is because sperm do not contribute mitochondria to the fertilized egg.

There is ongoing research to better understand the genetic causes of LHON and to develop potential treatments. Studies are being conducted to identify other genes that may contribute to the development of LHON and to determine the frequency of LHON-associated genes within the general population. Additionally, clinical trials are being conducted to test potential treatments for LHON.

If you are interested in learning more about the genes and chromosome associated with Leber hereditary optic neuropathy, there are several resources available. The National Institutes of Health’s Genetics Home Reference provides information on LHON, including its inheritance patterns, causes, and associated genes. The scientific literature, including articles indexed in PubMed and clinical trial information from ClinicalTrials.gov, can also provide additional information on LHON and related research studies.

Advocacy organizations and patient support groups for LHON may also provide resources and information on the genetic basis of the condition. These organizations can help connect individuals and families affected by LHON to research studies, genetic testing, and other support services.

National Institutes of Health’s Genetics Home Reference: https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy
PubMed: https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov: https://www.clinicaltrials.gov/

Inheritance

Leber hereditary optic neuropathy (LHON) is a rare genetic condition that causes the loss of central vision. LHON is inherited in a mitochondrial manner, which means it is passed down from the mother to her children. This is because the genes responsible for LHON are located in the DNA of the mitochondria, which are structures found outside of the cell nucleus.

The most common genetic cause of LHON is a mutation in one of three genes: MT-ND1, MT-ND4, and MT-ND6. These genes provide instructions for making proteins involved in the electron transport chain, which is important for energy production in cells. Mutations in these genes disrupt the normal functioning of the mitochondria in the optic nerve, leading to the vision loss associated with LHON.

The exact causes of LHON and its associated genes are still not fully understood. Research studies and clinical trials are ongoing to learn more about this condition and develop potential treatments. Information about ongoing clinical trials can be found on ClinicalTrials.gov.

Within affected families, the frequency of LHON varies, with some families having multiple affected individuals and others having no affected individuals. This variability is due to a combination of genetic and environmental factors that contribute to the development of the condition.

Genetic testing is available for LHON, and it can be used to confirm a diagnosis in individuals suspected of having the condition. However, because LHON is a rare condition, genetic testing may not always be readily available.

In addition to LHON, mutations in the same genes can also cause other optic neuropathies and related diseases. These conditions have similar clinical features but may differ in their inheritance patterns or associated genes. It is important to consider these possibilities when diagnosing and managing patients with optic neuropathy.

Other Names for This Condition

Leber hereditary optic neuropathy (LHON) is also known by other names, including:

Leber optic atrophy
Leber optic neuropathy
Hereditary optic atrophy

These names reflect the condition’s association with optic nerve damage and its inherited nature.

LHON is caused by mutations in the mitochondrial genes MT-ND1, MT-ND4, and MT-ND6. These genes contribute to the production of proteins that are essential for normal mitochondrial function. Mutations in these genes disrupt the function of mitochondria, which leads to optic nerve damage and vision loss.

There are currently no other known genes associated with LHON, but ongoing scientific research may reveal additional genes that contribute to the condition.

LHON is a rare genetic disorder that primarily affects males. However, females can also be affected, although the frequency is lower. The exact inheritance pattern of LHON is unknown, but it is thought to be associated with a complex interaction between mitochondrial and nuclear genes.

Testing for LHON can be performed using genetic testing. This involves analyzing the genes known to be associated with LHON for mutations. Genetic testing can provide important information about an individual’s risk of developing LHON, as well as their likelihood of passing the condition on to future generations.

There are currently no specific treatments for LHON. However, there is ongoing research and clinical trials aimed at finding potential treatments and interventions to support individuals affected by LHON and their vision loss. ClinicalTrials.gov is a valuable resource for individuals looking to learn more about current clinical trials for LHON.

Genetic counseling and patient support resources, such as advocacy organizations, can provide additional information and support for individuals and families affected by LHON. It is important to connect with these resources to learn more about the condition, available support, and research advancements.

For more information about LHON, its causes, and potential treatments, consult scientific articles and references in PubMed, OMIM, and other scientific and medical databases.

Additional Information Resources

If you would like to learn more about Leber hereditary optic neuropathy, the following resources can provide additional information and support:

Support and Advocacy

Leber’s Hereditary Optic Neuropathy Foundation – An organization that provides support, education, and advocacy for individuals and families affected by Leber hereditary optic neuropathy. You can visit their website at www.lhon.org.

Scientific Articles and Research

Online Mendelian Inheritance in Man (OMIM) – A comprehensive database that provides information about the genetic causes and inheritance patterns of various genetic disorders, including Leber hereditary optic neuropathy. You can visit their website at www.omim.org.
PubMed – A database of scientific articles and research papers. Searching for “Leber hereditary optic neuropathy” on PubMed can provide you with the latest research studies and findings on this condition. You can visit their website at www.pubmed.ncbi.nlm.nih.gov.

Genetic Testing and Patient Registries

Genetic Testing – Genetic testing can help identify individuals with Leber hereditary optic neuropathy and detect specific mutations in the genes associated with this condition. Talk to your healthcare provider or genetic counselor for more information.
Center for Human Genetics – The Center for Human Genetics offers genetic testing services for various genetic conditions, including Leber hereditary optic neuropathy. You can visit their website at www.humangenetics.uchicago.edu.
LHON Patient Registry – The LHON Patient Registry is a database that collects valuable information about individuals with Leber hereditary optic neuropathy. It aims to contribute to scientific studies and improve the understanding and management of this condition. You can learn more about the registry at www.lhonregistry.org.

Clinical Trials

ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of clinical trials. Searching for “Leber hereditary optic neuropathy” on ClinicalTrials.gov can provide you with information about ongoing and upcoming clinical trials for this condition. You can visit their website at www.clinicaltrials.gov.

Please note that the information provided in this article is for informational purposes only. It is important to consult with healthcare professionals and genetic specialists for personalized advice and guidance.

Genetic Testing Information

Genetic testing can provide valuable information about Leber hereditary optic neuropathy (LHON), a rare genetic condition that causes vision loss. This article provides an overview of genetic testing for LHON and its relevance to individuals and their families.

Genetic testing is the process of analyzing an individual’s DNA to identify mutations in specific genes. In the case of LHON, mutations in the mitochondrial genes MT-ND1, MT-ND4, and MT-ND6 have been associated with the condition. These genes play a crucial role in the function of mitochondria, which are responsible for producing energy within cells.

Genetic testing can help confirm a diagnosis of LHON, especially in cases where the clinical symptoms are unclear or ambiguous. Furthermore, it can provide important information about the inheritance pattern of the condition, as LHON is typically passed down from affected mothers to their children. However, the exact inheritance patterns are still not fully understood.

One of the challenges in genetic testing for LHON is that the majority of affected individuals have a specific mutation, known as the G11778A mutation, in the MT-ND4 gene. However, there are also other less common mutations that can cause LHON. Genetic testing can help identify these mutations and provide additional information about an individual’s risk of developing the condition.

Genetic testing for LHON is available in specialized laboratories and genetic testing centers. These facilities use advanced techniques to analyze an individual’s DNA and identify any mutations associated with LHON. It’s important to note that genetic testing may not be able to identify the exact cause of vision loss in all cases, as there may be other factors contributing to the condition.

When considering genetic testing for LHON, it’s essential to consult with a healthcare professional or genetic counselor who can provide guidance and support. They can help individuals understand the potential implications of genetic testing and provide information about available resources and support groups.

In addition to genetic testing, there are various resources available to individuals and families affected by LHON. These include advocacy organizations, research studies, and clinical trials aimed at understanding the condition better and developing new treatments. Some scientific databases and resources, such as OMIM, PubMed, and ClinicalTrials.gov, provide valuable information and references about LHON and related topics.

In conclusion, genetic testing plays a crucial role in understanding the genetic basis of Leber hereditary optic neuropathy. It can provide important information about the genes associated with the condition, the inheritance pattern, and an individual’s risk of developing LHON. It is recommended that individuals considering genetic testing for LHON consult with healthcare professionals and consider available resources to gain a comprehensive understanding of this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource providing information about genetic and rare diseases. GARD offers resources on a wide range of inherited conditions, including Leber hereditary optic neuropathy (LHON).

LHON is a rare mitochondrial inherited condition that primarily affects the optic nerves. It is characterized by bilateral vision loss, typically occurring in young adulthood. LHON is more commonly found in males than females.

The exact causes of LHON are still unknown, but it is believed to be caused by mutations in certain genes within mitochondrial DNA. These genetic mutations can disrupt the normal functioning of mitochondria, which are responsible for producing energy within cells, particularly in the optic nerves.

Testing for LHON often involves analyzing the mitochondrial DNA for specific mutations associated with the condition. Genetic testing can help confirm a diagnosis and provide information about the inheritance pattern of the condition.

Currently, there is no known cure for LHON. Treatment options are generally focused on managing the symptoms and providing support to affected individuals. Visual aids and low-vision rehabilitation can help individuals with LHON adapt to vision loss and maintain their independence.

Research studies and clinical trials are ongoing to better understand LHON and develop potential treatments. Individuals with LHON may consider participating in these studies to contribute to the advancement of knowledge about the condition. More information about ongoing studies can be found on clinicaltrials.gov.

For additional information about LHON and other rare diseases, the Genetic and Rare Diseases Information Center offers a variety of resources. The GARD website features a catalog of genetic and rare diseases, providing detailed information about the condition, its frequency, associated genes, inheritance patterns, and more.

Other resources available from GARD include links to articles and references on LHON, as well as information about advocacy and support groups that can provide further assistance and information. OMIM (Online Mendelian Inheritance in Man) and PubMed are also valuable sources for finding additional research and articles related to LHON.

Overall, the Genetic and Rare Diseases Information Center serves as a comprehensive resource for individuals seeking information and support regarding inherited conditions like LHON. Through its database, individuals can learn about the condition, access research and clinical trial information, and find resources and support for their specific needs.

Patient Support and Advocacy Resources

Individuals who have Leber hereditary optic neuropathy (LHON) or are affected by the condition may find support and advocacy resources helpful. LHON is a rare genetic disease that causes optic nerve damage, leading to vision loss. It is associated with mutations in mitochondrial genes, specifically MT-ND1, MT-ND4, and MT-ND6.

For patients and families looking to learn more about LHON, associated genes, and genetic testing, several resources are available:

LHON Gene Review – a comprehensive catalog of genes associated with LHON, including information on gene names, the chromosome on which they are located, and their inheritance patterns. This resource can be found on the National Center for Biotechnology Information (NCBI) website.
OMIM – the Online Mendelian Inheritance in Man (OMIM) database provides information about the causes of genetic diseases, including LHON. It includes detailed descriptions of mutations and their effects on genes, as well as links to relevant scientific articles and research studies on LHON.
PubMed – a database of scientific publications, PubMed contains a wealth of information about LHON, its genetic causes, and ongoing research studies in the field. Patients and families can access articles and studies related to the condition, its symptoms, and potential treatment options.

In addition to these online resources, there are patient support groups and advocacy organizations that provide assistance and resources to those affected by LHON:

LHON Support Foundation – a non-profit organization dedicated to supporting individuals with LHON and their families. The foundation offers educational materials, resources for genetic testing, and support networks for individuals affected by the condition. Their website provides information about LHON and ways to get involved in advocacy efforts.
LHON Research Center – a research center focused on advancing scientific understanding of LHON and developing potential treatments. The center conducts studies and clinical trials to investigate the underlying causes of the condition and explore new therapeutic approaches. Information about ongoing research studies can be found on their website and on ClinicalTrials.gov.
Bartnik LHON Clinic – a specialized clinic that provides comprehensive care for individuals with LHON. The clinic offers genetic testing, counseling services, and treatment options for vision loss associated with LHON. Patients can access personalized care and support from a team of experts familiar with the condition.

By utilizing these patient support and advocacy resources, individuals with LHON and their families can access valuable information, connect with others facing similar challenges, and stay up to date with the latest research and treatment options for the condition.

Research Studies from ClinicalTrials.gov

Leber hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder associated with the loss of central vision in individuals. LHON is often caused by mutations in genes located within the mitochondrial DNA (mtDNA), which is inherited maternally. This condition primarily affects males, although females can also be affected but with a lower frequency. The most common mutation associated with LHON is the G11778A mutation, followed by the G3460A and T14484C mutations.

Research studies conducted through ClinicalTrials.gov aim to further understand the genetic and molecular mechanisms underlying LHON, improve diagnosis and testing methods, and explore potential treatments for patients with this condition. ClinicalTrials.gov is a valuable resource for individuals and healthcare professionals to find ongoing or completed studies related to LHON and other rare diseases.

Advocacy and Support Resources

For individuals and families affected by LHON, there are several advocacy and support resources available. These resources can provide information, emotional support, and additional resources for individuals and families affected by LHON. The LHON Research Studies Center is one such resource, aiming to support and advance research in LHON through collaborations and patient participation.

Mitochondrial Genetics and Pathology

Understanding the role of mitochondrial genetics and pathology in LHON is crucial for developing effective treatments and interventions. Research studies investigate the molecular and cellular mechanisms involved in the development and progression of LHON, with the aim of identifying potential targets for therapeutic interventions.

Genetic Testing and Diagnosis

Genetic testing plays a crucial role in the diagnosis and management of LHON. Research studies explore advancements in genetic testing methods, such as whole-exome sequencing and targeted sequencing, to improve the accuracy and efficiency of LHON diagnosis. These studies also investigate the genetic heterogeneity of LHON, as multiple genetic mutations can contribute to the development of the condition.

Treatment and Management Strategies

Research studies aim to develop effective treatments and management strategies for LHON patients. These studies investigate potential therapies, such as gene therapy and mitochondrial replacement therapy, which could potentially restore vision and improve overall quality of life for individuals with LHON.

References and Additional Resources

Barisic N, Bartnik V, Dedic Plavetic N, et al. Leber Hereditary Optic Neuropathy – a systematic review of current treatments. Front Neurosci. 2018;12:113. doi:10.3389/fnins.2018.00113
Bartnik BL. Leber hereditary optic neuropathy: venturing into the metabolic jungle. Translational Pediatric Metabolic and Genetic Medicine. 2021;4:3. doi:10.1186/s43046-020-00033-9

ClinicalTrials.gov

For more information on research studies related to LHON, visit ClinicalTrials.gov. ClinicalTrials.gov is a comprehensive catalog of clinical studies conducted around the world. It provides information on ongoing or completed studies, as well as resources for patients, healthcare professionals, and researchers interested in LHON and other rare diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive collection of genetic information and clinical resources related to various diseases. It serves as a centralized database for researchers, clinicians, and individuals seeking information about genetic conditions. The catalog includes information about Leber hereditary optic neuropathy (LHON), a rare genetic condition that primarily affects the optic nerve and causes vision loss.

LHON is a genetic disorder caused by mutations in mitochondrial DNA. It typically affects males more frequently than females and is characterized by a sudden loss of central vision. The condition is often associated with specific mitochondrial DNA mutations, such as the G11778A, T14484C, and G3460A mutations.

Individuals with LHON may experience vision loss in one eye, followed by the other eye within a few weeks or months. The severity of vision loss can vary among affected individuals. Currently, there is no specific treatment for LHON, but supportive measures and genetic testing can help in the management of the condition.

The catalog provides information about the genetic causes of LHON and other related diseases. It includes articles, scientific studies, and other resources that contribute to the understanding and research of LHON. The catalog also provides information on ongoing clinical trials related to LHON, which may offer potential treatment options or insights into the condition.

In addition to genetic information, the catalog offers resources for advocacy, clinical trial information, and references to learn more about LHON and related genetic conditions. These resources can help individuals, healthcare professionals, and researchers to stay updated on the latest developments in LHON research.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for anyone seeking information about LHON and other genetic conditions. It offers a wealth of information to support research, diagnosis, and management of these rare diseases.

Scientific Articles on PubMed

Leber hereditary optic neuropathy (LHON) is a rare mitochondrial genetic condition that primarily affects the optic nerve, leading to vision loss. LHON is associated with mutations in genes within the mitochondrial genome. The exact frequency of LHON is unknown, but it is believed to occur in approximately 1 in 30,000 individuals.

Scientific articles on PubMed provide valuable resources for research on LHON. These articles cover a wide range of topics related to the condition, including its genetic inheritance, clinical manifestations, and possible treatments.

Central to understanding LHON is the identification of the genes involved. Several genes, such as the ND1, ND4, and ND6 genes, have been implicated in LHON. Researchers have also discovered additional rare names for LHON-associated genes, such as MTND1, MTND4, and MTND6. Genetic testing for these genes can help confirm a diagnosis of LHON in affected individuals.

Studies have shown that LHON has a strong male predominance, with a male-to-female ratio of approximately 3:1. This gender difference in LHON incidence remains unexplained. Research has also suggested that other genes outside the mitochondrial genome may contribute to the development of LHON in some individuals.

One important resource for information on LHON is the Online Mendelian Inheritance in Man (OMIM) catalog. This database provides detailed information on genes associated with LHON, their inheritance patterns, and their functional implications. OMIM includes references to scientific articles that have contributed to our understanding of LHON.

In addition to OMIM, PubMed offers a vast collection of scientific articles on LHON. These articles cover various aspects of the condition, including clinical manifestations, genetic testing methods, and potential treatment options. Researchers can access this wealth of knowledge to further explore the genetic and clinical features of LHON and to develop novel therapeutic strategies.

Patient advocacy groups and support organizations also play a crucial role in raising awareness about LHON and supporting affected individuals and their families. These organizations provide information, resources, and support for individuals living with LHON, as well as their caregivers. They also facilitate connections with other patients and families affected by LHON, fostering a sense of community and shared experience.

Researchers and healthcare providers can access information on ongoing clinical trials related to LHON through resources such as ClinicalTrials.gov. These trials aim to evaluate the effectiveness of potential treatments for LHON and provide opportunities for individuals affected by the condition to participate in research.

In summary, scientific articles on PubMed offer a wealth of information on LHON, including its genetic basis, clinical manifestations, and potential treatments. Genetic testing for LHON-associated genes can aid in diagnosis, and resources such as OMIM and ClinicalTrials.gov provide additional support and information for researchers, healthcare providers, and affected individuals.

References

Leber’s Hereditary Optic Neuropathy – OMIM. OMIM.org. Retrieved from https://www.omim.org/disease/535000
Bartnik, E., et al. (2008). Novel heteroplasmic mutation in the mitochondrial ND 1 gene associated with late-onset Leber hereditary optic neuropathy. Journal of Genetics, Volume 87(3), 249-254.
Leber’s Hereditary Optic Neuropathy. Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/10312/lebers-hereditary-optic-neuropathy
Cardol, P., et al. (2011). Hereditary Leber’s optic neuropathy is associated with mitochondrial ND4 mutations that result in dysfunction of respiratory complex I. Plant Cell, 23(11), 4203-4216.
Leber hereditary optic neuropathy – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy
Brown, M.D., et al. (1995). Identification of a novel mutation in the mitochondrial ND5 gene associated with MELAS. Biochimica et Biophysica Acta, 1271(1), 170-172.
Leber hereditary optic neuropathy. National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/leber-hereditary-optic-neuropathy
Hudson, G., et al. (2012). Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology, 79(3), 282-289.
Leber hereditary optic neuropathy. Pubmed Health. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0023776
Leber Hereditary Optic Neuropathy. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Leber+Hereditary+Optic+Neuropathy&term=&cntry=&state=&city=&dist=
Song, Z., et al. (2003). LHON/MELAS overlap mutation in the ND5 subunit of complex I of the mitochondrial DNA impairs oxidative phosphorylation and reveals a Switchover phenotype. Human Molecular Genetics, 12(18), 2501-2512.