Optic Atrophy, Hereditary, Leber

Known as: Leber's optic atrophy, Optic Neuroretinopathy, Hereditary, Optic Atrophy, Leber, Hereditary 
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The… (More)
National Institutes of Health

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18 relations
AtaxiaEyeGenetic HeterogeneityIn Blood
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Broader (2)

Disorder of the optic nerveOptic Atrophies, Hereditary

Narrower (1)

LEBER OPTIC ATROPHY AND DYSTONIA

Papers overview

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Highly Cited
2011
Highly Cited
2011
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.
Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex… (More)
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Review
2011
Review
2011
Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are the two most common inherited optic… (More)
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Review
2009
Review
2009
Inherited mitochondrial optic neuropathies
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic… (More)
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Highly Cited
2009
Highly Cited
2009
Gene–environment interactions in Leber hereditary optic neuropathy
Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA… (More)
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Highly Cited
2005
Highly Cited
2005
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy.
PURPOSE To study retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (StratusOCT) in patients with Leber's… (More)
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Review
2004
Review
2004
Mitochondrial dysfunction as a cause of optic neuropathies
Mitochondria are increasingly recognized as central players in the life and death of cells and especially of neurons. The energy… (More)
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Highly Cited
2000
Highly Cited
2000
Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.
Leber's hereditary optic neuropathy (LHON) is a form of blindness caused by mitochondrial DNA (mtDNA) mutations in complex I… (More)
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Highly Cited
1999
Highly Cited
1999
[Leber's hereditary optic neuropathy].
BACKGROUND Leber's hereditary neuropathy of the optic nerve (LHON) is manifested by bilateral affection of the eyes with acute or… (More)
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Highly Cited
1994
Highly Cited
1994
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
A five-generation Hispanic family expressing maternally transmitted Leber hereditary optic neuropathy and/or early-onset dystonia… (More)
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Highly Cited
1992
Highly Cited
1992
Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation.
Eight women are described who presented with bilateral, usually sequential, optic neuropathy, six of whom later developed a… (More)
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