Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Also Known As:
Leber's Hereditary Optic Neuropathy; Leber Optic Atrophy; Optic Atrophy, Hereditary, Leber; Leber Hereditary Optic Neuropathy; Leber Optic Atrophy and Dystonia; Leber's Disease; Leber's Hereditary Optic Atrophy; Leber's Optic Atrophy; Optic Atrophy, Leber Type; Optic Atrophy, Leber, Hereditary; Disease, Leber's; Diseases, Leber's; Leber Disease; Leber's Diseases; Lebers Disease; Lebers Optic Atrophy; Optic Atrophy, Leber; Optic Atrophy, Leber's
Networked: 605 relevant articles (7 outcomes, 41 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Friedreich Ataxia (Friedreich's Ataxia)
2. Optic Nerve Diseases (Optic Neuropathy)
3. Stroke (Strokes)
4. Lactic Acidosis
5. Multiple Sclerosis


1. Carelli, Valerio: 51 articles (12/2015 - 01/2002)
2. Sadun, Alfredo A: 23 articles (12/2015 - 01/2002)
3. Barboni, Piero: 16 articles (02/2014 - 06/2002)
4. Valentino, Maria Lucia: 15 articles (02/2014 - 06/2002)
5. Jia, Xiaoyun: 15 articles (01/2013 - 01/2006)
6. Zhang, Qingjiong: 15 articles (01/2013 - 01/2006)
7. Yao, Yong-Gang: 15 articles (10/2012 - 01/2007)
8. Qu, Jia: 13 articles (08/2015 - 03/2005)
9. Tong, Yi: 13 articles (08/2015 - 09/2002)
10. Martinuzzi, Andrea: 13 articles (01/2011 - 02/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Leber Hereditary Optic Atrophy:
1. idebenoneIBA
2. Glutathione (Reduced Glutathione)IBA
3. AntioxidantsIBA
4. Mitochondrial DNA (mtDNA)IBA
5. Retinaldehyde (Retinal)IBA
6. PhosphorusIBA
7. Mitochondrial encephalopathyIBA
03/01/2011 - "The aim of this paper is to describe the clinical features and molecular findings of a unique case of Leber's hereditary optic neuropathy (LHON)/mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) overlap syndrome presenting as nonischemic central retinal vein occlusion (CRVO). "
06/01/1991 - "It is argued that this rare disease, since the princeps description in 1964 only reported in England (1986) and the U.S.A (1986), is most likely a singular type of mitochondrial encephalopathy: it is associated with Leber's optic atrophy, and the NMR changes observed have been signalled in other mitochondrial encephalomyelopathies, such as Leigh's disease and MELAS."
04/01/2013 - "These trials have included patients with various mitochondrial disorders, a selected subcategory of mitochondrial disorders, or specific mitochondrial disorders (Leber hereditary optic neuropathy or mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes). "
03/01/1998 - "Mutations usually associated with either mitochondrial encephalopathy, lactic acidosis and stroke-like episode, myoclonic epilepsy with ragged red fibres, or those strongly linked to Leber's hereditary optic neuropathy (LHON) were not detected in patients or controls. "
01/01/2016 - "The screened mutations include A3243G, T3271C and T3291C for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS); A8344G and T8356C for Myoclonus Epilepsy and Rag-Red Fibers (MERRF); G11778A, G3460A and T14484C for Leber's Hereditary Optic Neuropathy (LHON); T8993G/C and T9176G for Leigh syndrome; A1555G for deafness syndrome; G4298A, T10010C, T14728C and T14709C for neuromuscular syndrome. "
8. NADH DehydrogenaseIBA
10. UbiquinoneIBA

Therapies and Procedures

1. Plasma Exchange
2. Lasers (Laser)
3. Intravitreal Injections
4. Drug Therapy (Chemotherapy)
5. Bariatric Surgery