Leber's hereditary optic neuropathy


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Related to Leber's hereditary optic neuropathy: Leber's congenital amaurosis

Leber's hereditary optic neuropathy

A rare genetic disease inherited from the mother caused by a point mutation in MITOCHONDRIAL DNA. Onset is usually about the 20th year and males are affected more often than females. It features changes in the small retinal blood vessels progressing to a degree of atrophy of the optic nerves in both eyes with a severe defect in visual acuity. In most cases a visual acuity of about 6/60-one tenth of normal-is retained. (T. von Leber, 1040–1917, German ophthalmologist and professor of ophthalmology at Heidelberg).
References in periodicals archive ?
Santhera's lead product Raxone (idebenone) is authorized in the European Union, Norway, Iceland, Liechtenstein and Israel for the treatment of Leber's hereditary optic neuropathy (LHON).
The report reviews pipeline therapeutics for Leber's Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) by companies and universities/research institutes based on information derived from company and industry-specific sources
Wallace, "Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation," The Journal of Biological Chemistry, vol.
Brown MD, Trounce IA, Jun AS, Allen JC, Wallace DC (2000) Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.
A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.
Mitochondrial DNA mutation with Leber's hereditary optic neuropathy.
Deficient NADH:coenzyme Q oxidoreductase in Leber's hereditary optic neuropathy.
It also reviews key players involved in the therapeutic development for Leber's Hereditary Optic Neuropathy (LHON) (Leber optic atrophy).
Santhera's lead product Raxone (idebenone) is authorized in the European Union, Norway, Iceland and Liechtenstein for the treatment of Leber's hereditary optic neuropathy (LHON).
Santhera Pharmaceuticals has signed an agreement with Ewopharma to launch Raxone for the treatment of Leber's hereditary optic neuropathy (LHON) in a number of Eastern European countries (Bulgaria, Croatia, Czech Republic, Hungary, Poland, Romania, Slovakia and Slovenia) and the Baltics (Estonia, Latvia and Lithuania).
The product is indicated to treat Leber's hereditary optic neuropathy, a heritable genetic disease causing blindness.

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