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.
(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 neuropathyM2 EQUITYBITES-June 20, 2018-NeuroVive Pharmaceutical offers
Leber's Hereditary Optic Neuropathy therapy license to BridgeBio Pharma