Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Eye Diseases, Hereditary
Optic Atrophies, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Optic Atrophies, Hereditary
Término preferido
Optic Atrophy, Autosomal Dominant
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Tipo
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mesh:Descriptor
Definición
- Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Concepto genérico
Etiquetas alternativas
- Autosomal Dominant Optic Atrophy
- Autosomal Dominant Optic Atrophy Kjer Type
- Dominant Optic Atrophy
- Kjer Type Optic Atrophy
- Kjer's Optic Atrophy
- Kjer-Type Optic Atrophy
- Optic Atrophy 1
- Optic Atrophy, Hereditary, Autosomal Dominant
- Optic Atrophy, Juvenile
- Optic Atrophy, Kjer Type
- Optic Atrophy Type 1
En otras lenguas
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francés
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Atrophie du nerf optique autosomique dominante
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Atrophie optique dominante
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Atrophie optique dominante de Kjer
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Atrophie optique dominante de type 1
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Atrophie optique dominante de type I
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Maladie de Kjer
URI
http://data.loterre.fr/ark:/67375/JVR-TRH09QKJ-0
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