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

Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation.
 

Author(s): Yukihiko Mashima, Kazuteru Kigasawa, Kei Shinoda, Masato Wakakura, Yoshihisa Oguchi

Journal:

 

Patients with Leber hereditary optic neuropathy (LHON) have a progressive decrease of their visual acuity which can deteriorate to <0.1. Some patients can have a partial recovery of their vision in one or both eyes. One prognostic factor associated with a recovery of vision is an ...

Last Updated: 31 Dec 1969

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Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).
 

Author(s): Fábio Tadeu Arrojo Martins, Paulo Maurício do Amor Divino Miranda, Marcela Scabello Amaral Fernandes, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato

Journal:

 

Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA ...

Last Updated: 31 Dec 1969

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The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.
 

Author(s): A Majander, A G Robson, C João, G E Holder, P F Chinnery, A T Moore, M Votruba, A Stockman, P Yu-Wai-Man

Journal: Mitochondrion. 2017 Sep;36():138-149.

 

Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern ...

Last Updated: 31 Dec 1969

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

Leber hereditary optic neuropathy: bridging the translational gap.
 

Author(s): Neringa Jurkute, Patrick Yu-Wai-Man

Journal: Curr Opin Ophthalmol. 2017 Sep;28(5):403-409.

 

Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing ...

Last Updated: 31 Dec 1969

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Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?
 

Author(s): David A Mackey, Lisa S Kearns, Alex W Hewitt

Journal: Asia Pac J Ophthalmol (Phila). ;5(4):253-5.

 

Leber hereditary optic neuropathy has now joined Leber congenital amaurosis in the list of genetic eye diseases undergoing gene therapy clinical trials. Although a dramatic response to treatment would be welcome, a minor improvement in vision is a major challenge in efficacy assessment, ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 23 Jan 2018

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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: 1 Mar 2017

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REALITY LHON Registry
 

Status: Recruiting

Condition Summary: Leber Hereditary Optic Neuropathy

 

Last Updated: 2 May 2018

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