Abstract:

Leber hereditary optic neuropathy (LHON) is a maternally transmitted hereditary disease. Mitochondrial dysfunction and stress are involved in the degeneration and apoptosis of retinal ganglion cells (RGCs). The continuous innovation and improvement of the LHON models provide a good experimental basis for the study of the molecular mechanism of LHON. Among them, the ectopically expressed LHON mutant cells are the main research tools at this stage. Gene therapy is a breakthrough point in the treatment of LHON which has been tested in the clinic. (Int Rev Ophthalmol, 2018, 42:  302-306)