Leber\'s Hereditary Optic Neuropathy (LHON), is one of the most frequent mitochondrial diseases characterized by Retinal Ganglion Cells degeneration. Pathogenic gene mutations in LHON induces mitochondrial impairment, which in turn leads to insufficient mitochondrial ATP production. The pathologic hallmark of the disease is primary degeneration of retinal ganglion cells, which results in optic nerve atrophy. The paper reviews some of the recent advances in the understanding of LHON: new genetics discoveries and novel therapeutic approaches.

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that specifically targets the retinal ganglion cells by reducing their ability to produce enough energy to sustain. The mutations of the mitochondrial DNA that cause LHON are silent until an unknown trigger causes bilateral central visual scotoma. After the onset of loss of vision, most patients experience progressive worsening within the following months. Few of them regain some vision after a period of ~1 year. Management of LHON patients has been focused on understanding the triggers of the disease and its pathophysiology to prevent the onset of visual loss in a carrier. Medical treatment is recommended once visual loss has started in at least one eye. Research evaluated drugs that are thought to be able to restore the mitochondrial electron transport chain of the retinal ganglion cells. Significant advances were made in evaluating free radical cell scavengers and gene therapy as potential treatments for LHON. Although encouraging the results of clinical trial have been mixed in stopping the worsening of visual loss. In patients with chronic disease of over 1 year, efficient treatment that restores vision is yet to be discovered. In this review, we summarize the management strategies for patients with LHON before, during, and after the loss of vision, explain the rationale and effectiveness of previous and current treatments, and report findings about emerging treatments.

The purpose of this review is to present the current and emerging treatment alternatives for Leber\'s hereditary optic neuropathy (LHON), emphasizing the most recent use of idebenone and stem cells or gene therapy.
A comprehensive literature review was performed at the PubMed database regarding the various treatment modalities for LHON.
Treatment modalities for LHON include nutritional supplements, activators of mitochondrial biogenesis, brimonidine, and symptomatic and supportive treatment, but nowadays attention is being paid to idebenone and gene therapy or stem cells.
The treatment of LHON remains challenging, given the nature of the disease and its prognosis.