Treatment strategies for mitochondrial optic neuropathies

Three decades have elapsed since the first reports of the human disease being directly caused by defects within the mitochondrial genome, including the identification of the m.11778G > A mitochondrial DNA (mtDNA) mutation in patients with Leber hereditary optic neuropathy (LHON). LHON carries a poor visual prognosis, and patient management remains largely supportive. However, significant advances in the understanding of the mechanisms underpinning retinal ganglion cell loss in this mitochondrial disorder are paving the way for novel forms of treatment aimed at halting or reversing visual deterioration at different stages of the disease process. Moreover, the eye is an ideal target organ for gene therapy, given its relative ease of anatomical access. Still, some key issues need to be explored further, particularly the most efficient gene delivery systems and the optimal window for therapeutic intervention in LHON.