Article
[Hereditary optic atrophies].
Revue neurologique - 1 Dec 2010
Scherer C, Procaccio V, Ferre M, Guillet V, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C
Abstract excerpt
INTRODUCTION: Hereditary optic neuropathies, resulting from retinal ganglion cell degeneration, are a heterogeneous group of diseases ranging from asymptomatic forms to legal blindness. STATE OF KNOWLEDGE: Two most frequent phenotypes are Kjer's disease, an autosomal dominant optic atrophy caused by OPA1 gene mutations, and Leber's disease due to maternally inherited mitochondrial DNA mutations. PROSPECTS AND...
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