Dr Patrick Yu-Wai-Man
Associate Professor and Honorary Consultant Ophthalmologist, Moorfields Eye Hospital, Addenbrooke’s Hospital and the University of Cambridge
Patient advocate, The LHON Society
More information is needed about Leber hereditary optic neuropathy (LHON), an inherited and devastating form of vision loss.
One morning in 2013, Matthew Leverington woke up to find that he had lost some of the sight in one eye. Alarmingly, over the next eight weeks, he began losing sight in his other eye. “I went from having 20/20 vision to being registered as severely sight impaired, with no central vision in either eye,” he reveals.
Ultimately, Matthew was diagnosed with Leber hereditary optic neuropathy (LHON), a rare inherited form of vision loss that predominantly affects young adult men (typically between the ages of 15 to 35), caused by a gene mutation passed down the maternal line. At the time, he was 22 years old with a job in the City and his whole life ahead of him. It was devastating.
“I thought I’d have been aware of a condition that ran in my family,” says Matthew. “But it came out of the blue, so my initial reaction was shock and disbelief, which turned to grief because I was dealing with a loss.” Like many patients with LHON, Matthew retains his peripheral vision and can live an independent life; but he stresses that any restoration of his sight, no matter how slight, would make a huge impact on his quality of life.
Impact on other family members
“Without central vision, sight is severely impaired,” explains Dr. Patrick Yu-Wai-Man, Associate Professor and Honorary Consultant Ophthalmologist, Moorfields Eye Hospital, Addenbrooke’s Hospital and the University of Cambridge. “You can’t recognise people’s faces clearly even from a close distance and it affects reading. You can’t drive and it has an impact on the kind of jobs you can do. It can be socially disabling.”
Yet LHON has wider implications. “The mother of a patient will have also transmitted the mutation to other siblings,” notes Dr Yu-Wai-Man. “So there may be other family members living with the knowledge that they too carry this genetic change and are at risk of losing vision.” Down the line, it might even influence a couple’s decision to have children.
“The whole family becomes a victim,” agrees Russell Wheeler, a patient advocate for the LHON Society, whose son lost his vision to the condition 10 years ago. “I know of twin brothers who were diagnosed with LHON and lost their vision within a year of each other. The brother who was waiting to go blind said it was so devastating that it was almost a relief when it finally happened — which is not to downplay its terrible impact.”
He also believes that more understanding of LHON — which he estimates affects between 1,500 and 3,000 people in the UK — is vital.
Better understanding needed
Treatment options in LHON are limited. There is a licensed treatment that is available which may give benefit to some LHON patients, but it is not funded currently by NHS England.
The good news is that research is taking place into understanding the genetic basis of this disease which will shed more light onto the disease itself and the hope is that it may yield other treatment approaches.
Russell says that better psychological support must be made available to LHON patients. He also believes that more understanding of LHON — which he estimates affects between 1,500 and 3,000 people in the UK — is vital.
It’s why he’s so excited about the funding Dr Yu-Wai-Man has received from the National Institute for Health Research (NIHR) to conduct a new data collection study. “It’s scandalous that there are still so many unanswered questions about LHON, so this study is a promising development,” says Russell. “Hopefully its outcome will ensure that research is focused on the right areas, and that regulators and reimbursement authorities will consider the right criteria when deciding whether to approve funding.”
Those impacted by LHON deserve nothing less.
Date of Preparation: September 2021