Optic Atrophy, Autosomal Dominant

Known as: Optic Atrophy, Juvenile, Atrophy, Juvenile Optic, Optic Atrophy, Hereditary, Autosomal Dominant 
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic… (More)
National Institutes of Health

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Highly Cited
2008
Highly Cited
2008
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have… (More)
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Highly Cited
2008
Highly Cited
2008
Dominant optic atrophy (DOA) is characterized by retinal ganglion cell degeneration leading to optic neuropathy. A subset of DOA… (More)
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Highly Cited
2008
Highly Cited
2008
Mutations in nuclear genes involved in mitochondrial DNA (mtDNA) maintenance cause a wide range of clinical phenotypes associated… (More)
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Highly Cited
2007
Highly Cited
2007
OPA1 is a ubiquitously expressed, nuclear dynamin-related GTPase, targeted to the inner mitochondrial membrane, which plays a… (More)
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Review
2004
Review
2004
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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Review
2002
Review
2002
Dominant optic atrophy (DOA) is the most common form of inherited optic neuropathy. Although heterogeneous, a major locus has… (More)
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Highly Cited
2001
Highly Cited
2001
We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause… (More)
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Highly Cited
2000
Highly Cited
2000
Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual… (More)
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Review
1998
Review
1998
Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the… (More)
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Highly Cited
1980
Highly Cited
1980
Autosomal dominant optic atrophy is an abiotrophy with an insidious onset in the first decade of life. The clinical features of… (More)
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