Introduction: Leber's Optic Hereditary Neuropathy (LHON) is a common cause of teenaged
blindness in both eyes for which there is currently no effective treatment. In 1871, the German
ophthalmologist Theodor Leber was the first to describe the clinical characteristics of his namesake
disease, and through unremitting efforts over the past 100 years, researchers have continued to increase
their understanding of LHON. In recent years, using gene therapy, several groups have obtained
breakthroughs in the treatment of the disease.
Conclusion: In this article, we will review the challenging journey that researchers faced towards our
current understanding of LHON, and describe the transition of gene therapy research for LHON from
the bench to bedside.
Keywords: Leber's optic hereditary neuropathy, Gene therapy, Translational medicine, Mitochondrial disease, MT-ND4, Allotopic
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