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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… 
National Institutes of Health

Related topics

Related topics

18 relations
AtaxiaEyeGenetic HeterogeneityIn Blood

Broader (2)

Disorder of the optic nerveOptic Atrophies, Hereditary

Narrower (1)

LEBER OPTIC ATROPHY AND DYSTONIA

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Respuesta a la idebenona asociada a multivitaminoterapia en neuropatía óptica hereditaria de Leber
espanolObjetivo: Determinar la eficacia del tratamiento con idebenona y multivitaminico en la neuropatia optica hereditaria de… 
Highly Cited
1997
Highly Cited
1997
mtDNA Haplotype Analysis in Finnish Families with Leber Hereditary Optic Neuroretinopathy
The mitochondrial DNA (mtDNA) sequence variation of 24 Finnish Leber hereditary optic neuroretinopathy (LHON) probands was… 
1995
1995
No association of the 11778 rnitochondrial DNA mutation and multiple sclerosis in Japan
Leber's hereditary optic neuropathy (LHON), a maternally inherited disease causing severe bilateral visual loss in young men, is… 
Review
1994
Review
1994
A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.
To the Editor: Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disorder that typically involves an acute or… 
Highly Cited
1992
Highly Cited
1992
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.
Leber hereditary optic neuropathy (LHON) is associated with mutations of mtDNA, but two features of LHON pedigrees are not… 
Highly Cited
1989
Highly Cited
1989
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.
The presence or absence of a recently observed mitochondrial DNA (mtDNA) mutation associated with Leber hereditary optic… 
Highly Cited
1988
Highly Cited
1988
Reinvestigation of the role of the optic vesicle in embryonic lens induction.
The induction of the lens by the optic vesicle in amphibians is often cited as support for the view that a single inductive event… 
Highly Cited
1982
Highly Cited
1982
Leber's congenital amaurosis. Is mental retardation a frequent associated defect?
Thirty-one patients had Leber's congenital amaurosis. Only one was severely retarded, and three demonstrated hypoplasia of the… 
Highly Cited
1972
Highly Cited
1972
Leber's optic atrophy, a possible example of maternal inheritance.
Leber's disease (now in its centenary) is markedly familial yet its mode of inheritance is moot. This disease is an acutely… 
Highly Cited
1933
Highly Cited
1933
Über die Veränderungen der Leber bei der Basedowschen Krankheit und ihre Bedeutung für die Entstehung anderer Organsklerosen
1. Die Leber von Basedow-Kranken zeigt häufig frische oder alte Veränderungen, die als Folge der Thyreotoxikose anzusehen sind… 
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