LHON is a mitochondrial disease, as it is caused by a genetic mutation (or, variance) in the mitochondria. Mitochondria are known as the powerhouses of the cell. They are organelles that act like a digestive system, which takes in nutrients, breaks them down, and creates energy rich molecules for the cell. The biochemical processes of the cell are known as cellular respiration.
The most common LHON mutation is the 11778 mutation, accounting for about 60% of all LHON cases.
Most of the remaining LHON cases are the 14484 or 3460 mutations, with the remaining 5-10% of carriers with one of several very rare mutations.
A woman carrying an LHON genetic inheritance will pass it to all of her children; but, a man will never pass it to his children.
Individuals who have lost their central vision due to LHON are referred to as “affected”, whereas people with an LHON genetic inheritance, but without vision loss, are called “Carriers” or “Unaffected Carriers.”