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Leber Hereditary Optic Neuropathy 

Leber Hereditary Optic Neuropathy
Chapter:
Leber Hereditary Optic Neuropathy
Author(s):

Matthew J. Thurtell

, and Robert L. Tomsak

DOI:
10.1093/med/9780190603953.003.0005
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date: 07 June 2020

Leber hereditary optic neuropathy in an important cause of acute painless monocular vision loss. It most often occurs in young men. Almost all patients develop fellow eye involvement within a few months, resulting in severe irreversible binocular vision loss. In this chapter, we begin by reviewing the differential diagnosis of acute optic neuropathy. We next discuss the genetic basis for Leber hereditary optic neuropathy and list the three common mitochondrial DNA mutations that cause it. We then review the clinical features and natural history of Leber hereditary optic neuropathy. Lastly, we discuss the treatment approach for this condition and review promising treatment options.

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