Earlier this year, life suddenly looked so much better for Lee Morris. After struggling with worsening sight all his life, within days of a pioneering operation, he could see all the details he had previously missed.
‘Before, a tree would just be a tree. But now, I can see the lines on its bark,’ says Lee, 40, who lives with his wife Linda, 42, in Chorley, Lancashire. ‘I can see much better in poor light so I’m more confident I won’t walk into people or objects.
‘Faces are also much clearer. I can even see Linda’s face much better. We joke that might not be a good thing!’
The dramatic change happened after Lee became one of the first people in the UK to have ocular gene therapy, a new treatment, which it’s hoped could benefit hundreds of thousands of Britons. In simple terms, it involves an abnormal gene being replaced by a functioning one.
Lee Morris, 40, of Chorley, Lancashire, struggled with worsening sight all his life before receiving the ocular gene therapy
Lee has inherited retinal dystrophy, a group of eye diseases caused by mutant genes thought to affect around 25,000 Britons. Untreated, the condition can steadily destroy sight, and is the leading cause of sight loss in those aged 15 to 45.
These faulty genes cause a gradual deterioration of the light-sensitive cells in the retina at the back of the eye.
The gene involved varies. In Lee’s case, it was the RPE65 gene — a rare fault that affects fewer than 100 people in the UK with inherited retinal dystrophy.
Experts believe this ground-breaking therapy could also treat other types of inherited retinal dystrophy as well as more common eye diseases, such as age-related macular degeneration (AMD), which affects more than 600,000 in the UK.
For those like Lee for whom there has been no other treatment option, it is a huge step forward. ‘All of my life, I’ve been told there was no treatment,’ says Lee, who works in travel industry administration. ‘So when my consultant told me about a new therapy, I knew it could be life changing.’
Lee’s parents first realised he had a problem when, as a baby, he had to hold toys up to the light to see them
In healthy people, the RPE65 gene provides instructions for a protein to be made in the retinal pigment epithelium, the layer of cells in the retina that helps convert light entering the eye into electrical signals to the brain.
Initially, the cells responsible for night and peripheral vision are affected; but with age, those involved in central and day vision deteriorate, too, meaning patients may suffer complete sight loss.
Lee’s parents first realised he had a problem when, as a baby, he had to hold toys up to the light to see them. But he wasn’t diagnosed until he was eight. ‘I coped when at primary school, but at secondary school I had a support worker,’ recalls Lee. ‘On winter nights I stayed indoors as I couldn’t go out safely. I could see street lights, but couldn’t make out detail. It was frustrating that I couldn’t hang out with my friends.’
In his early 20s, Lee’s peripheral eyesight deteriorated further. He stopped playing football, and even watching TV was difficult.
‘It was like looking through a tube,’ says Lee. ‘I often bumped into things or tripped on pavements. I even gave myself food poisoning once as I hadn’t properly cooked the turkey.
Because Lee had only one faulty gene, it was felt he would be a good candidate for the new treatment
‘At my hospital appointments, I was told I would not become completely blind, but my sight would get worse.’
Then, last year, Lee was given encouraging news about a gene therapy treatment called Luxturna that had been trialled in the U.S., with promising results. Now, centres in Oxford, London and the Manchester Royal Eye Hospital are treating patients with the RPE65 form of retinal dystrophy.
Tsveta Ivanova, a vitreo-retinal (specialist eye) surgeon at Manchester University NHS Foundation Trust, explains: ‘The thinking was that if you can replace the one abnormal gene, then disease manifestation would stop.’
Because Lee had only one faulty gene, it was felt he would be a good candidate. Lee met the consultants doing the op — Assad Jalil, a vitreoretinal surgeon, and Miss Ivanova — in December 2019. Then, in late January this year, Lee had the one-hour surgery on his left eye, the weaker one.
Under general anaesthetic, it involved removing the clear, jelly-like vitreous humour that fills the eyeball. This is sucked out via a hole in the white of the eye, to provide access to the retina (it then naturally regenerates). The modified gene is then injected in place of the faulty one.
‘The patient must then lie still for 24 hours so the gene can be better absorbed,’ says Mr Jalil.
Lee stayed in hospital overnight and wore an eye patch. He also used eye drops for a month and took daily steroid tablets to help stop his body rejecting the new gene.
‘When the patch was removed the next day my sight was very blurred,’ says Lee. ‘But after a week it was much better and when Linda and I went to a pub, I could see striped wallpaper for the first time.’
Lee’s right eye was operated on four weeks later.
The treatment is not without risks. ‘As it is delicate surgery, the retina could become detached or the centre of the eye damaged,’ says Mr Jalil.
So far just a handful of patients in the UK have benefited from it.
The hope is that this kind of gene therapy could ultimately help with AMD — when light-sensitive cells in the macula degenerate, damaging central vision. It’s a major cause of sight loss in the UK.
Increasingly, evidence shows that the most common type, ‘dry’ AMD, is linked to reduced amounts of complement factor I (CFI). It’s thought a gene mutation may, in some people, result in low levels of CFI, and trials — including one at Manchester — are now looking into the role of gene therapy in AMD.
Meanwhile, Lee is revelling in the improvement to his vision. He says: ‘I’m so grateful that gene therapy has given me, and others with similar conditions, hope when for so long there wasn’t any.’