Leber Hereditary Optic Neuropathy: Treatment Frontier

Dear Colleagues,

Leber hereditary optic neuropathy (LHON) is a rare genetic disease, in which retinal ganglion cells undergo cell death associated with a mutation of mitochondrial DNA (mtDNA). LHON typically involves both eyes of young males, between the ages of 10 and 30. The ratio of males to females for this condition is a remarkably imbalanced, at 8:1. The rate of LHON incidence is currently understood to be 3.22 per 100,000 people. Its hereditary pattern is clearly maternal, and most families with LHON cases have either one of the three missense mutations of mtDNA of 16,500 base pairs in length: m 3460 G>A, or m 11778 G>A, or m 14484 T>C and patients with the m11778 G>A mutation has the lowest frequency of spontaneous remission. Usually, visual acuity subacutely deteriorates in one eye and then the disease affects an opposite eye within a few weeks after onset. The visual acuity of both eyes then eventually decreases to <20/200. The visual field abnormality typically shows a large central scabbed or perforated scotoma. Due to this nature of disease onset and clinical courses, LHON makes patients seriously handicapped and their quality of life nosediving.

Several clinical trials have been attempted to improve vision in the context of this disease, including the use of idebenone, the derivatives of coenzyme Q10, EPI-473, and also various forms of gene therapy using the adeno-associated virus vecto; however, the effectiveness of all these approaches is still undetermined and firm evidence in favor of any beneficial treatment of LHON has not yet been established. The present Special Issue aims to spot a frontier of information regarding concept and strategy of LHON treatment.

Prof. Dr. Makoto Nakamura
Prof. Dr. Katarzyna Nowomiejska
Guest Editors

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• leber hereditary optic neuropathy
• gene therapy
• clinical trial
• intractable disease
• retinal ganglion cells
• coenzyme Q10
• EPI-473
• electrical stimulation