Intractable Rare Dis Res. 2013;2(4):130-135. (DOI: 10.5582/irdr.2013.v2.4.130)

Therapeutic strategies for Leber’s hereditary optic neuropathy: A current update.

Gueven N, Faldu D


Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial retinopathy, caused by mutations in subunits of complex I of the respiratory chain, which leads to elevated levels of oxidative stress and an insufficient energy supply. This molecular pathology is thought to be responsible for the dysfunction and eventual apoptotic loss of retinal ganglion cells in the eye, which ultimately results in blindness. Many strategies, ranging from neuroprotectants, antioxidants, anti-apoptotic- and anti-inflammatory compounds have been tested with mixed results. Currently, the most promising compounds are short-chain quinones that have been shown to protect the vision of LHON patients during the early stages of the disease. This commentary gives a brief overview on the current status of tested therapeutics and also addresses future developments such as the use of gene therapy that hopefully will provide safe and efficient therapy options for all LHON patients.

KEYWORDS: Leber's Hereditary Optic Neuropathy, mitochondrial disease, quinones, therapy, clinical trial, antioxidants, neuroprotectants

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