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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13 relations
Autosomal dominant inheritanceColor Blindness, BlueColor Blindness, Red-GreenEye
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Papers overview

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Highly Cited
2008
Highly Cited
2008
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
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
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
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
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
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 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
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
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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Review
2002
Review
2002
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
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
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
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
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
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
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
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. A spectrum of disability.
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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