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 Jul 2015

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How do you compare to others with this condition?

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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 Jul 2015

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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 81 free, full-text research articles on human participants. First 3 results:

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.
 

Author(s): Nicole J Van Bergen, Jonathan G Crowston, Jamie E Craig, Kathryn P Burdon, Lisa S Kearns, Shiwani Sharma, Alex W Hewitt, David A Mackey, Ian A Trounce

Journal:

 

Primary Open Angle Glaucoma (POAG) is a common neurodegenerative disease characterized by the selective and gradual loss of retinal ganglion cells (RGCs). Aging and increased intraocular pressure (IOP) are glaucoma risk factors; nevertheless patients deteriorate at all levels of IOP, ...

Last Updated: 27 Oct 2015

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Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial.
 

Author(s): Byron L Lam, William J Feuer, Joyce C Schiffman, Vittorio Porciatti, Ruth Vandenbroucke, Potyra R Rosa, Giovanni Gregori, John Guy

Journal: JAMA Ophthalmol. 2014 Apr;132(4):428-36.

 

IMPORTANCE Establishing the natural history of G11778A Leber hereditary optic neuropathy (LHON) is important to determine the optimal end points to assess the safety and efficacy of a planned gene therapy trial. OBJECTIVE To use the results of the present natural history study of ...

Last Updated: 11 Apr 2014

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Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass.
 

Author(s): Michio Hirano

Journal: Brain. 2014 Feb;137(Pt 2):308-9.

 

Last Updated: 6 Feb 2014

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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 6 free, full-text review articles on human participants. First 3 results:

Is there treatment for Leber hereditary optic neuropathy?
 

Author(s): Jason H Peragallo, Nancy J Newman

Journal: Curr Opin Ophthalmol. 2015 Nov;26(6):450-7.

 

To discuss recent advances in potential treatments for Leber hereditary optic neuropathy (LHON), a typically visually devastating hereditary optic neuropathy caused by mutations in the mitochondrial genome.

Last Updated: 9 Oct 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy
 

Status: Recruiting

Condition Summary: Leber's Hereditary Optic Neuropathy

 

Last Updated: 24 Jun 2016

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Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)
 

Status: Recruiting

Condition Summary: Leber's Hereditary Optic Neuropathy (LHON)

 

Last Updated: 23 Aug 2016

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