Possible causes

The cause of this malfunctioning of the mitochondria is a genetic mutation that is only transmitted by the mother and that disrupts the functioning of the ganglion cells. Our genetic material is stored in the form of DNA (deoxyribonucleic acid) and this happens not only in the cell nuclei of our body, but also in the mitochondria that are present in the cells. This mitochondrial DNA can undergo mutations that change it. Three specific genetic mutations are responsible for the occurrence of LHON in more than 90% of patients.

However, this does not mean that all carriers of one of those genetic mutations will necessarily develop LHON. LHON manifests itself in 30 to 40% of the carriers, probably due to a triggering factor.