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- W2069237813 abstract "Les neuropathies optiques héréditaires sont un groupe hétérogène de pathologies affectant les nerfs optiques et qui peuvent se transmettre selon un mode autosomique dominant, autosomique récessif, lié à l’X ou selon une hérédité mitochondriale. Les deux pathologies héréditaires non syndromiques les plus fréquentes (neuropathie optique héréditaire de Leber et l’atrophie optique dominante) ont des manifestations cliniques et des modes de transmission très différents, aboutissant néanmoins à une atrophie optique non spécifique. Au-delà des manifestations purement visuelles, il n’est pas exceptionnel de constater chez des patients atteints, un nombre croissant de manifestations neurologiques associées. Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized." @default.
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- W2069237813 date "2012-10-01" @default.
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- W2069237813 title "Neuropathies optiques héréditaires" @default.
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- W2069237813 doi "https://doi.org/10.1016/j.neurol.2012.08.005" @default.
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