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 ?
Arruga, "Response to idebenone and multivitamin therapy in Leber's hereditary optic neuropathy," Archivos De La Sociedad Espanola De Oftalmologia, vol.
Li, "A retrospective analysis of characteristics of visual field damage in patients with Leber's hereditary optic neuropathy," SpringerPlus, vol.
Shaunak, "Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome," Practical Neurology, vol.
(2005) Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy. FEBS J 272: 1124-1135.
Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 58:640-641.
Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.
The first two diseases shown to have mutations in mitochondrial genes included Leber's hereditary optic neuropathy (LHON), a sudden-onset, young-adult blindness (Wallace et al., 1988) and a group of progressive neuromuscular disorders now classified as chronic progressive external opthalmoplegia (CPEO) and the Kearns-Sayre syndrome (KSS) (Holt, Harding, & Morgan-Hughes, 1988).
Deficient NADH:coenzyme Q oxidoreductase in Leber's hereditary optic neuropathy. N Engl J Med 1989;320:1331-3.
Nine years ago, Wallace and his colleagues discovered the first inherited mitochondrial DNA defect--a mutation that results in a rare form of blindness called Leber's hereditary optic neuropathy. In 1992, the researchers demonstrated that flaws in mitochondrial DNA can, in rare cases, lead to type 2 diabetes, a disease in which the body can't process sugar properly.
Well-known mitochondrial diseases of children are Leigh's syndrome, cardiomyopathty, and medium-chain acyl CoA dehydrogenase (MCAD) deficiency Typical mitochondrial diseases of young adults include Leber's hereditary optic neuropathy and Kearns-Sayre syndrome.
Rustum Karanjia who presented data from Phase 2 clinical trial and open-label extension in Leber's hereditary optic neuropathy
M2 EQUITYBITES-June 20, 2018-NeuroVive Pharmaceutical offers Leber's Hereditary Optic Neuropathy therapy license to BridgeBio Pharma

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