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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2006-3-3
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pubmed:abstractText |
Autosomal dominant optic atrophy (ADOA) is characterized by symmetrical bilateral optic atrophy associated with reduced corrected visual acuity (VA), central or centrocecal scotoma, and color vision disturbances. The disease is genetically heterogeneous, and the OPA1 gene has been identified as the only causative gene. The aims of this study were to identify and report mutations in the OPA1 gene in Japanese patients with ADOA and to describe the clinical features associated with the mutations.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1549-4713
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
113
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
483-488.e1
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:16513463-Adult,
pubmed-meshheading:16513463-Aged,
pubmed-meshheading:16513463-Asian Continental Ancestry Group,
pubmed-meshheading:16513463-Child,
pubmed-meshheading:16513463-Codon, Nonsense,
pubmed-meshheading:16513463-Color Vision Defects,
pubmed-meshheading:16513463-DNA Mutational Analysis,
pubmed-meshheading:16513463-DNA Transposable Elements,
pubmed-meshheading:16513463-Female,
pubmed-meshheading:16513463-GTP Phosphohydrolases,
pubmed-meshheading:16513463-Gene Deletion,
pubmed-meshheading:16513463-Genes, Dominant,
pubmed-meshheading:16513463-Genetic Variation,
pubmed-meshheading:16513463-Humans,
pubmed-meshheading:16513463-Male,
pubmed-meshheading:16513463-Middle Aged,
pubmed-meshheading:16513463-Mutation,
pubmed-meshheading:16513463-Mutation, Missense,
pubmed-meshheading:16513463-Optic Atrophy,
pubmed-meshheading:16513463-Penetrance,
pubmed-meshheading:16513463-Phenotype,
pubmed-meshheading:16513463-Scotoma
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pubmed:year |
2006
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pubmed:articleTitle |
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.
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pubmed:affiliation |
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan. makonaka@med.nagoya-u.ac.jp
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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