Leber hereditary optic neuropathy


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Leber hereditary optic neuropathy

Neurology A mitochondrial disease characterized by neurologic abnormalities, infantile encephalopathy, and transient or permanent blindness due to optic nerve damage. See Mitochondrial disease.

Leber disease

, Leber hereditary optic neuropathy (lāb′ĕr)
[Theodor Leber, Ger. ophthalmologist, 1840–1917]
Bilateral blindness inherited from maternal mitochondria. It primarily affects males.
References in periodicals archive ?
Brown, "The epidemiology of Leber hereditary optic neuropathy in the North East of England," American Journal of Human Genetics, vol.
Howell, "Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?," American Journal of Medical Genetics, vol.
[3.] Mascialino B, Leinonen M, Meier T (2012) Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe.
Dr Patrick Yu-Wai-Man, an ophthalmologist at Newcastle University, has used a neuroprotective drug called idebenone, which is given orally, to treat a common inherited form of blindness called Leber hereditary optic neuropathy (LHON).
CONTEXT: Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease.
Leber hereditary optic neuropathy is an mtDNA mutation-related mitochondrial cytopathy that suggests insights into how mitochondrial dysfunction might play a central role in classic neurodegenerative diseases and perhaps provides a precedence as well.
Since the discovery that Leber hereditary optic neuropathy (LHON) results from mutations in mitochondrial DNA (mtDNA), considerable attention has been focused on this alternative genome and on development of the scientific tools needed to study this remarkable genetic pathway (1, 2).
M2 PHARMA-April 18, 2019-GenSight Biologics Reports Positive Follow-up Results at Week 72 of the RESCUE Phase III Clinical Trial of GS010 in Leber Hereditary Optic Neuropathy
It is well established that autosomal dominant hereditary optic neuropathy (ADOA) is the most common type of HON, followed by Leber hereditary optic neuropathy (LHON) and other plus syndromes associated with damage of the nervous system [1,2].
For example, an adenine-to-guanine transversion at position 4136 (A4136G) of the human mitochondrial genome, which leads to the substitution of cysteine for tyrosine in the ND1 subunit of respiratory chain complex I, has been associated with Leber hereditary optic neuropathy (4-6).
M2 PHARMA-December 13, 2018-GenSight Biologics Reports Sustained Quality of Life Improvements at Week 72 of Phase III REVERSE Clinical Trial of GS010 for the Treatment of Leber Hereditary Optic Neuropathy
(1) Nonstandard abbreviations: nDNA, nuclear DNA; mtDNA, mitochondrial DNA; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; MERRF, myoclonic epilepsy and ragged-red fibers; NARP, neuropathy, ataxia, retinitis pigmentosa; LHON, Leber hereditary optic neuropathy; RFLP, restriction fragment length polymorphism; and ASO, allele-specific oligonucleotide.