Leber Hereditary Optic Neuropathy (LHON)

Lay summary : Leber Hereditary Optic Neuropathy (LHON)
PI Professor PF Chinnery

Leber Hereditary Optic Neuropathy (LHON) is a rare, inherited, form of blindness that usually develops in early adult life. This disorder causes major disability with a significant impact on quality of life, and there is currently no effective treatment. Despite intense research over the past two decades, we still do not fully understand the genetic trigger for the severe visual loss that characterises LHON.

People affected by LHON carry disease causing genetic variants within mitochondrial DNA (mtDNA), which is a piece of our genetic code that is only inherited down the female line. However, these mtDNA genetic variants are relatively common (~1 in 300) in the healthy population, which means that they cannot cause blindness on their own. The additional genetic factors in LHON remain unknown and it is not possible to predict who will become blind in a family transmitting LHON.

Our aim is to understand why LHON only affects some family members.. We will do this by sequencing the whole genome in affected and unaffected siblings to identify which genetic variants in the nuclear genome are only found in affected blind individuals, and are therefore responsible for causing loss of vision.

LHON is currently recruiting at Newcastle Upon Tyne Hospitals NHS Foundation Trust