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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Leber hereditary optic neuropathy


Other Names for this Disease
  • Leber optic atrophy
  • Leber’s disease
  • LHON
  • Optic atrophy, Leber type
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Symptoms


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What are the signs and symptoms of Leber hereditary optic neuropathy (LHON)?

Blurring and clouding of vision are usually the first symptoms of this disorder. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens, often leading to severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[1] In rare cases, other symptoms may occur such as heart arrhythmias and neurologic abnormalities (e.g., postural tremor, peripheral neuropathy, nonspecific myopathy, movement disorders), and a multiple sclerosis-like disorder.[2]

However, a significant percentage of people with a mutation that causes Leber hereditary optic neuropathy do not develop any features of the disorder. Specifically, more than 50 percent of males with a mutation and more than 85 percent of females with a mutation never experience vision loss or related medical problems. Additional factors may determine whether a person develops the signs and symptoms of this disorder. Environmental factors such as smoking and alcohol use may be involved, although studies of these factors have produced conflicting results. Researchers are also investigating whether changes in additional genes, particularly genes on the X chromosome, contribute to the development of signs and symptoms.[1]
Last updated: 12/2/2011

References
  1. Leber hereditary optic neuropathy. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy. Accessed 12/2/2011.
  2. Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. GeneReviews. July 2011; http://www.ncbi.nlm.nih.gov/books/NBK1174/. Accessed 12/2/2011.