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- W4312018724 abstract "Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disease, responsible for blindness by bilateral involvement of central vision. It usually affects young men but can occur at any age and in women. Its diagnosis is suspected on the family history and the initial clinical picture, and the definitive diagnosis of LHON is obtained by genetic testing and the molecular identification of the mitochondrial genetic point mutation. The initial workup should include an assessment of visual structure and function. Its visual prognosis is severe, but depends on the causative mutation. Support should include genetic counseling, a therapeutic proposal and a support for visual impairment." @default.
- W4312018724 created "2023-01-03" @default.
- W4312018724 creator A5077079266 @default.
- W4312018724 date "2022-11-01" @default.
- W4312018724 modified "2023-09-28" @default.
- W4312018724 title "Neuropathie optique héréditaire de Leber : tableau clinique et données du bilan initial" @default.
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- W4312018724 doi "https://doi.org/10.1016/s0181-5512(22)00444-2" @default.
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