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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.
Review
2005
Review
2005
epto-Optic Dysplasia omplex: A eterogeneous alformation yndrome
epto-optic dysplasia is defined by a variable combiation of dysgenesis of midline brain structures includng optic nerve… 
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… 
Highly Cited
1996
Highly Cited
1996
Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement
Introduction – Preferential maternal transmission in familial cases and the occasional association of multiple sclerosis (MS) and… 
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… 
1993
1993
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
One of the commonest reasons for sudden-onset optic nerve degeneration in young men can be attributed to maternally inherited… 
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
1964
Highly Cited
1964
A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.
Highly Cited
1935
Highly Cited
1935
Der Stoffwechsel des isolierten Fettgewebes
ZusammenfassungEs wird versucht, in der großen Variabilität der Fettgewebsatmung gewisse Gesetzmäßigkeiten zu finden. Dabei zeigt… 
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