Leber hereditary optic neuropathy

Common Name(s)

Leber hereditary optic neuropathy, Leber's optic atrophy, Leber's Disease

Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber hereditary optic neuropathy" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber hereditary optic neuropathy" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Leber hereditary optic neuropathy" returned 77 free, full-text research articles on human participants. First 3 results:

Point mutations associated with Leber hereditary optic neuropathy in a Latvian population.
 

Author(s): Aleksandra Aitullina, Kristine Baumane, Solveiga Zalite, Renate Ranka, Egija Zole, Ilva Pole, Svetlana Sepetiene, Guna Laganovska, Viesturs Baumanis, Liana Pliss

Journal:

 

To study mutations associated with Leber hereditary optic neuropathy (LHON) in patients suspected of having this mitochondrial disorder in a Latvian population. Additional aims were to determine the heteroplasmy status of all non-synonymous polymorphisms identified in the current ...

Last Updated: 9 Dec 2013

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Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy.
 

Author(s): Nahid Akhtar Khan, Periyasamy Govindaraj, Vuskamalla Jyothi, Angamuthu K Meena, Kumarasamy Thangaraj

Journal:

 

Mitochondrial DNA (mtDNA) mutations are known to cause Leber hereditary optic neuropathy (LHON). However, the co-occurrence of double pathogenic mutations with different pathological significance in pedigrees is a rare event.

Last Updated: 27 Jun 2013

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Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy.
 

Author(s): Anais Thouin, Philip G Griffiths, Gavin Hudson, Patrick F Chinnery, Patrick Yu-Wai-Man

Journal:

 

Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex ...

Last Updated: 13 May 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Leber hereditary optic neuropathy" returned 5 free, full-text review articles on human participants. First 3 results:

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.
 

Author(s): Gerald Pfeffer, Ailbhe Burke, Patrick Yu-Wai-Man, D Alastair S Compston, Patrick F Chinnery

Journal: Neurology. 2013 Dec;81(24):2073-81.

 

To determine whether the association between multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) (known as "Harding disease") is a chance finding, or the 2 disorders are mechanistically linked.

Last Updated: 10 Dec 2013

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Genotype-phenotype correlations in Leber hereditary optic neuropathy.
 

Author(s): Katarzyna Tońska, Agata Kodroń, Ewa Bartnik

Journal: Biochim. Biophys. Acta. ;1797(6-7):1119-23.

 

Leber hereditary optic neuropathy (LHON), acute or subacute vision loss due to retinal ganglion cell death which in the long run leads to optic nerve atrophy is one of the most widely studied maternally inherited diseases caused by mutations in mitochondrial DNA. Although three common ...

Last Updated: 21 Jun 2010

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Leber hereditary optic neuropathy.
 

Author(s): P Y W Man, D M Turnbull, P F Chinnery

Journal: J. Med. Genet.. 2002 Mar;39(3):162-9.

 

Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the British population. It is characterised by bilateral subacute loss of central vision owing to focal degeneration ...

Last Updated: 18 Mar 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
 

Status: Recruiting

Condition Summary: Leber Hereditary Optic Neuropathy

 

Last Updated: 2 Sep 2013

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Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients
 

Status: Recruiting

Condition Summary: Leber Hereditary Optic Neuropathy

 

Last Updated: 14 Feb 2014

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Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation
 

Status: Recruiting

Condition Summary: Leber's Hereditary Optic Neuropathy; G11778A Gene Mutation; Human Mitochondrial ND4 Gene

 

Last Updated: 15 Jul 2014

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