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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/leber-optic-atrophy-8505/overview/5369 • DATE UPDATED: 2016-06-23

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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