Leber hereditary optic neuropathy

Overview

What is Leber hereditary optic neuropathy?

Leber hereditary optic neuropathy is a mitochondrial disease that mainly affects the eye causing painless loss of central vision in both eyes in early adulthood. Common symptoms include vision loss as well as less commonly tremor or a shaking, heartbeat irregularities, and a multiple sclerosis like condition.

Leber hereditary optic neuropathy is inherited in a mitochondrial pattern. This means that the genetic change that causes Leber hereditary optic neuropathy can be passed on from the mother to her children but not from the father to his children. This happens because the genetic changes in Leber hereditary optic neuropathy are contained within the mitochondria (these produce the energy for the cell). These mitochondria are only passed on from generation to generation through the egg cells and therefore women. Genetic changes that have the potential to cause Leber hereditary optic neuropathy are found in about one of 8500 individuals. Symptoms of Leber hereditary optic neuropathy can be broken down into three categories. The first is pre-symptomatic, this is the stage prior to any signs or symptoms occurring. The acute stage is second where vision loss occurs relatively rapidly. The last stage is the atrophic stage where the optic discs that are involved in vision become atrophic meaning that they no longer function well. Other symptoms of Leber hereditary optic neuropathy include higher pressure in the eye as well as heartbeat irregularities.

Treatments for Leber hereditary optic neuropathy are relatively varied. Currently there is no cure for Leber hereditary optic neuropathy, however there are a number of ongoing clinical trials. These trials are looking for more information about Leber hereditary optic neuropathy as well as studying potential treatments or cures.

References
  • Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1174/
  • Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. Journal of Medical Genetics. 2009;46(3):145-158. doi:10.1136/jmg.2007.054270.
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Are there other names for Leber hereditary optic neuropathy?

How many people have Leber hereditary optic neuropathy?

What is the usual abbreviation for Leber hereditary optic neuropathy?

What is Leber hereditary optic neuropathy called most often by doctors?

Are there other names for Leber hereditary optic neuropathy?

There are a few other names for Leber hereditary optic neuropathy including: hereditary optic neuroretinopathy, LHON, Leber's disease, Leber's optic atrophy, and Leber's optic neuropathy. Leber's disease can also mean Lebers congenital amaurosis which is a completely different disease so it is important to discern the difference.

References
  • Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1174/
  • Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. Journal of Medical Genetics. 2009;46(3):145-158. doi:10.1136/jmg.2007.054270.
How many people have Leber hereditary optic neuropathy?

The number of people who have Leber hereditary optic neuropathy varies by ethnicity. In Northern Eurpoean ethnicities about 1 in 31000 individuals will have Leber hereditary optic neuropathy. Leber hereditary optic neuropathy is considered the most common mitochondrial disease in Caucasians.

References
  • Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1174/
  • Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. Journal of Medical Genetics. 2009;46(3):145-158. doi:10.1136/jmg.2007.054270.
What is the usual abbreviation for Leber hereditary optic neuropathy?

The most common abbreviation for Leber hereditary optic neuropathy is LHON.

References
  • Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1174/
  • Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. Journal of Medical Genetics. 2009;46(3):145-158. doi:10.1136/jmg.2007.054270.
What is Leber hereditary optic neuropathy called most often by doctors?

Leber hereditary optic neuropathy is most often called LHON by doctors. In addition, this disease may also be referred to as a mitochondrial disease.

References
  • Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1174/
  • Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. Journal of Medical Genetics. 2009;46(3):145-158. doi:10.1136/jmg.2007.054270.

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