In 1871, Dr. Theodor van Leber, a German ophthalmologist, described a hereditary optic neuropathy that now bears his name. LHON refers to a malfunction of the optic nerve caused by mitochondrial DNA (mtDNA) mutations, leading to rapid loss of central vision (usually in 2 to 3 months).
Onset of LHON vision loss can begin at any age.
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 is estimated to cause sudden vision loss 30 to 40% of the carriers, possibly due to a triggering factor (see triggering factors or other genetic factors
What are mitochondrial disorders or energy metabolic disorders?
This is a group of rare, complex diseases, which, although rare, together represent a large group. These disorders are characterized by a malfunction of the mitochondrial respiratory chain that originates in a mutation of the mitochondrial DNA (mtDNA) or the cell nuclear DNA (nuclear DNA).
Mitochondria, which occur in all cells of the body, are elements with different functions. The energy production of a cell depends on the mitochondria so the organs that are most dependent on the energy supply are first affected: muscles, neurons, heart and eyes.
Transmission of LHON takes place from a mother to all of her children.
