Treatment for cause of sudden sight loss now available through the NHS in England
The National Institute for Health and Care Excellence (NICE) has approved a treatment for Leber Hereditary Optic Neuropathy (LHON), called Idebenone (Raxone), in those aged 12 and above who are affected by the condition.
LHON is a rare mitochondrial genetic disease that leads to rapidly worsening vision in both eyes, and there is currently no cure for it. It occurs when the mitochondria, small structures inside our cells responsible for generating more than 90% of the body’s energy, do not function properly. LHON is one of the most common types of mitochondrial disease, primarily affecting the cells that make up the optic nerve, which carries visual information from the eye to the brain. Early symptoms include blurred central vision and loss of colour vision. While typically painless, the disease progresses to severe vision loss and then legal blindness, within a few weeks. It disproportionately affects men and those between 15 and 35 years old.
Approximately 2,500 individuals in this country have been affected with LHON.
Idebenone, an oral medicine taken three times a day, works by supporting mitochondrial function in the cells of the optic nerve. This reduces damage and can improve vision by boosting energy production in these cells, giving people the chance to regain greater independence, confidence and a better quality of life.
Not everyone who is treated with Idebenone will benefit. Among those who do, people report an improvement in their central vision, making it easier to recognise faces and non-verbal cues, which are critical for communicating with colleagues, friends and family. The evidence gathered to date indicates that the treatment is effective in about half of those who take Idebenone.
This is the first time that NICE has approved a treatment for any mitochondrial condition, though this has already been available for limited use to people affected by individuals with LHON in Wales and Scotland. It is available without restriction to those over 12 years old.
Lily’s story
Lily benefitted from Idebenone before it was approved for NHS prescription, and it has made a massive difference for her.
“I first noticed a problem with my vision during the Easter holidays in 2022. In the space of two weeks, I went from perfect vision to being unable to recognise, faces, colours, or much really. Everything was a blur and it was horrible, I couldn’t see anything; I masked it by asking my sisters to help me with things.
“I initially attributed the change in my sight to GCSE stress and fatigue. My optician and GP didn’t know what to do with me, neither did my local hospital, which was stressful.
“After a few weeks, my mum contacted her second cousin, as we thought there may be an eye issue in the family, and we realised it was LHON. We made contact with Moorfields, and found a specialist who knew more and could offer help.
“Losing my sight was the most devastating thing I have experienced. A family member mentioned idebenone, but little changed at first. I could not count fingers in front of my face, but can now, mostly with accuracy.
“I lost friends; many people didn’t know how to act around me, what to say, or how to include me in activities. I spent a lot of time at home feeling isolated.
“I had to learn how to learn again and pick myself up. I can use a mobile phone, an iPad and a laptop, so I can study and communicate. I learned to touch type too.
“I completed my GCSEs exams, got good grades and the school was really supportive; if they had not been, my life could be very different now. I got A-level results I am proud of, and I am now studying psychology at the University of York, living independently away from home. I’m able to cook and take care of myself. I’m able to get out and about with the support of my white cane, affectionately named “Harry” by my family.
“I’m grateful to have regained some sight and some peripheral vision. What I can see now is not a full recovery, but it is an improvement from where I was. Sight is not solely measured by reading letters from a chart. There are stages from seeing nothing to being able to have enough sight to make a cup of tea, find my belongings in the house, see the dog and find things on my plate when I eat, though if there are foods to choose from on the table, I still may have no idea what is there.
“It means I can now run guided with a group, though I’m not yet ready to run alone. In October 2023, I ran the Loch Ness Marathon alongside my dad and an excellent team of friends”.
Patrick Yu-Wai-Man, professor of ophthalmology and honorary consultant neuro-ophthalmologist at the University of Cambridge, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, said:
“LHON causes devastating visual loss and it is a life-changing diagnosis for the affected individual and their family. England is now in line with the rest of the United Kingdom with Idebenone now available through the NHS. This will come as a great relief to the LHON community in this country, bringing hope to those who have experienced significant visual loss from this mitochondrial genetic disorder.”
Helen Knight, Director of Medicines Evaluation at NICE, added:
“Leber Hereditary Optic Neuropathy is a debilitating condition that has a hugely significant impact on people, robbing them of their independence and quality of life.
The evidence shows Idebenone could improve people’s eyesight and help their quality of life. We will continue to get the best care to people, fast, ensuring value for the taxpayer.”
The study that led to the approval was supported by NIHR Moorfields Biomedical Research Centre.
Moorfields Eye Charity has part-funded Patrick’s research over the past 10 years to understand the genetic and molecular basis of inherited optic neuropathies, including LHON.