[Hereditary optic atrophies].
Copyright policy )[Hereditary optic atrophies].
Hereditary optic neuropathies, resulting from retinal ganglion cell degeneration, are a heterogeneous group of diseases ranging from asymptomatic forms to legal blindness.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.Both optic neuropathies usually isolated are sometimes associated with extraocular symptoms, especially neurological symptoms, thus justifying a systematic neurological evaluation and brain imaging.
Retinal Ganglion Cells, Optic Atrophies, Hereditary, Mutation, Optic Atrophy, Autosomal Dominant, Humans, Optic Atrophy, Hereditary, Leber, DNA, Mitochondrial, GTP Phosphohydrolases
Retinal Ganglion Cells, Optic Atrophies, Hereditary, Mutation, Optic Atrophy, Autosomal Dominant, Humans, Optic Atrophy, Hereditary, Leber, DNA, Mitochondrial, GTP Phosphohydrolases
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