Leber hereditary optic neuropathy: clinical picture and initial workup data

J Fr Ophtalmol. 2022 Nov;45(8S1):S3-S8. doi: 10.1016/S0181-5512(22)00444-2.


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.

PMID:36529475 | DOI:10.1016/S0181-5512(22)00444-2