Neuropathies optiques héréditaires

D Milea; C Verny

doi:10.1016/j.neurol.2012.08.005

Neuropathies optiques héréditaires

6 Citationer (Scopus)

Abstract

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.

Bidragets oversatte titel	Hereditary optic neuropathies
Originalsprog	Fransk
Tidsskrift	Revue Neurologique
Vol/bind	168
Udgave nummer	10
Sider (fra-til)	706-9
Antal sider	4
ISSN	0035-3787
DOI	https://doi.org/10.1016/j.neurol.2012.08.005
Status	Udgivet - 2012

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10.1016/j.neurol.2012.08.005

Citationsformater

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abstract = "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.",

author = "D Milea and C Verny",

note = "Copyright {\textcopyright} 2012. Published by Elsevier Masson SAS.",

year = "2012",

doi = "10.1016/j.neurol.2012.08.005",

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volume = "168",

pages = "706--9",

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AU - Milea, D

AU - Verny, C

PY - 2012

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N2 - 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.

AB - 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.

U2 - 10.1016/j.neurol.2012.08.005

DO - 10.1016/j.neurol.2012.08.005

M3 - Tidsskriftartikel

SN - 0035-3787

VL - 168

SP - 706

EP - 709

JO - Revue Neurologique

JF - Revue Neurologique

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ER -

Neuropathies optiques héréditaires

Abstract

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