Researchers find clue to rare genetic disorder
May 22, 2019

Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss that causes people to have trouble with their colour vision and difficulty seeing in the centre of their visual field. Until recently, researchers believed the cause of LHON was related to the size of the fibers that connect the eye to the brain, with small fibers being more sensitive. However, it wasn’t clear how exactly the two were connected.

A recent study, led by researchers at McGill University and published in the journal Scientific Reports, offers an important step in unlocking the mystery of LHON’s cause. The researchers had previously showed that the cells that connect the eye to the brain were sensitive to a certain free radical, known as “superoxide,” and hypothesized that the presence of too much superoxide was likely the cause of LHON.