Leber Hereditary Optic Neuropathy

LHON, is a genetic eye disease that affects the optic nerve. The risk for LHON is automatically passed down from a mother to all her children, however it carries an uncertain diagnosis because even though family members may have the same genetic mutation, their vision will not be impacted in the same way – it may or may not cause vision loss in a person’s lifetime.

LHON starts with painless clouding and blurriness of vision. The vision loss may start in one eye or in both, with symptoms most often starting between the ages of 15 and 35 years of age. Leber Hereditary Optic Neuropathy affects one in 50,000 people.

A person’s central vision which deals with detail essential for tasks such as driving, reading and the ability to recognize faces is affected first. Individuals usually lose vision in one eye first and then lose vision in the other eye after two to three months. The atrophic phase is characterized by bilateral optic atrophy, resulting in lifelong blindness.

> New Australian LHON study

Professor David Mackey in his practice

A recent Australian study, published in the American Journal of Human Genetics, found 96 Australian families currently have the gene and 355 people are currently living with vision loss because of it. The study led by Professor David Mackey AO from the Lions Institute found the overall risk of losing vision if you have the LHON gene is 17.5% for males (one in six males) and 5.4% for females (one in 20 females).

This is significantly less than the popularly quoted risk of 50% for males (one in two males) and 10% for females (one in 10 females).

There is no specific therapy or surgery to treat or prevent the specific vision loss due to Leber Hereditary Optic Neuropathy. Technology is constantly developing to improve the lives and opportunities for people with sight loss. If you are new to living with LHON you will probably be unaware of how lots of tasks you think are not possible anymore can be achieved.

Even if you have had LHON for some time you may not be aware of the latest technology solutions on the market.

For more information refer to Quantum’s recent webinar “I Didn’t Know That Existed” and read Bernie’s story. View the webinar here: https://youtu.be/QhwXJv_0kpM