When most mothers gaze into their newborn’s eyes, they feel a sense of wonder. But Carly Thorpe was filled with fear. As she looked at her baby daughter Nevaeh, she noticed something unsettling – her tiny eyes quivered and darted from side to side.
“Call it mother’s instinct, I just knew something wasn’t right,” Carly says. “I could see her eyes were moving from side to side really fast. I was told it was simply her eyes developing, but deep down, I feared she was blind. I was so worried.”
At the time, Carly and her partner James were living in Dubai, thrilled to become new parents. Nevaeh arrived healthy and beautiful, but by the time she was eight weeks old, Carly could see her eyes were not as they should be.
“It was like there was nothing there – she couldn’t focus. It was incredibly worrying. I just kept thinking ‘what if she is blind’. It was the pandemic at the time, and I was very alone. I didn’t know anything about sight conditions, so I started to research. I was told that it could be ocular albinism, but we didn’t have any albinism in the family and didn’t know we could carry the genes. We were able to get her glasses, but she couldn’t be in the sun, we had to stay indoors all the time, which was really isolating.”
By 2023, Carly and James had moved back to Jersey, where Carly grew up, so they could be surrounded by family. Nevaeh was referred to the island hospital, where clinicians helped the couple understand albinism better.
Albinism is a genetic condition where individuals have a reduced amount of melanin, resulting in pale skin and hair. Many people don’t know that it can severely affect the eyes, but it happens because melanin is involved in the development of the retina, the thin layer of cells at the back of the eye. A common feature of albinism is nystagmus, which causes rapid, uncontrollable eye movements – up and down, side to side, or in a circular motion – and can result in problems with balance and coordination. There’s no cure, but there is a range of supportive treatments, for example, wearing glasses, taking certain medications and even eye surgery.
“We started to understand more about albinism and how it will affect Nevaeh. For example, she won’t be able to drive”, Carly explains. “But we still didn’t know what she could see. We received a lot of support and continued to do our own research.”
Carly then became pregnant and was told there was a 1 in 4 chance the new baby could be born with albinism.
“I wasn’t too worried because I thought she couldn’t be worse than Neveah, but she is.”
Novah was born in 2024, and both James and Carly knew she had albinism straight away on account of her white hair – Nevaeh’s hair is red. It’s become very clear that Novah’s eyesight is worse than Nevaeh’s, which has been a real challenge for the family.
“For the first six months after Novah was born, I was a mess. We were so concerned she was blind. She couldn’t register anything. She has now been prescribed glasses, but it’s so hard for her to get her to wear them. We always have to have the hood on her buggy or need the shade all the time. We miss out on a lot of outdoor activities with friends.”
Novah was referred to University Hospital Southampton after she became severely constipated. It was thought she might have Hirschsprung’s, a condition that affects the large intestine (colon) and is associated with mutated genes, just like albinism.
During Carly’s research into albinism, she discovered Dr Jay Self, a Consultant Ophthalmologist at University Hospital Southampton and Associate Professor of Paediatric Ophthalmology at the University of Southampton. Jay is one of the UK’s leading experts in vision disorders affecting children, and when Carly was liaising with doctors about Novah’s tests for Hirschsprung’s, she copied in Jay in the hope he might be able to help with her albinism.
Jay got in touch and invited both Novah and Nevaeh for tests in Southampton. “I was delighted when Jay emailed me back. It felt like someone was on our side and we could start to help our daughters navigate what is going to be a tricky life.”
Tests have confirmed that Nevaeh has oculocutaneous albinism type 2, and Carly is expecting Novah’s results in the autumn, but she thinks it will be the same diagnosis. Both girls have nystagmus and astigmatism (blurry vision) and have been prescribed glasses to improve their eyesight. Novah cannot see more than one metre away and has an astigmatism score of -4.75. Nevaeh’s astigmatism score is -2.
To check if treatments for nystagmus and astigmatism are working, doctors have to rely on standard vision tests, such as static letter charts and field of vision tests. But these don’t represent real-life situations and can overestimate how good a patient’s vision is. For example, when crossing a road, everything is moving, and we need to see and recognise things quickly.
Jay and a team of computer games experts and mathematicians have teamed up to design and test prototype games to measure if a patient’s sight has improved after one of the treatments. The games – called NystagME and Amblios – allow doctors to measure how quickly someone can see, as well as how clearly.
Nevaeh has been trying the NystagME games for a few weeks to assess whether the glasses she has been prescribed are really helping to improve her eyesight.
Carly adds: “We’ve been helping her get used to the games and it’s been going well. I want her to be able to use technology. She’s going into year 1 and the access and reliance on technology will grow as she gets older. We don’t want her to be held back.
“It’s been incredibly difficult, but I’m now full of hope that both girls’ sight can be improved. When someone like Jay is on side, it is incredibly reassuring. The whole team have been amazing. We were at a loss at the beginning, but now things feel brighter for both girls.”
Jay says: “The idea is that the games test a more realistic level of vision under time pressure, as the eyes are asked to move quickly around the screen. Once we have refined the games based on the feedback, we are aiming to use the games in clinical trials, so that as a research community, we finally understand which potential treatments actually work.”
Jay and the team have also created smartphone games to help improve treatment for children with amblyopia, known as ‘lazy eye’. This causes sight loss in young children and occurs when one eye doesn’t develop a strong enough link to the brain. It’s usually treated by covering the unaffected eye with a patch for a few hours a day for several months. This forces the ‘lazy’ eye to work. But it’s only successful in around half of children because experts say busy households ‘giving up’ due to the time and effort involved is a leading cause of failure. Amblyopia is far more common, and treatment is also much more likely to fail, in children from lower socioeconomic backgrounds.
“There’s a lot of research showing that children from the lowest socioeconomic groups have access to smartphones, so using the technology people have in their hands every day makes the games accessible for everyone,” says Jay. “We have a wide range of sight loss research taking place in Southampton. We’re developing treatments for albinism for the first time and hope to have a clinical trial opening this coming year, with other drugs being patented by the University, which are aimed at rescuing the sight of young children. It’s a very exciting time.”
Pioneering sight loss research will be one of the main focuses of the new Institute for Medical Innovation (IMI), a joint initiative between the University of Southampton and University Hospital Southampton NHS Foundation Trust.
The £100million facility will bring together the greatest minds in medicine, computer science and engineering in the fight against devastating diseases such as cancer, dementia, infectious diseases, respiratory and allergic conditions, and sight loss. The IMI will be funded through investment from the University and a significant fundraising campaign to be launched in the next year.
Carly fully supports the IMI, saying, “We need more research into these conditions, so to hear that the new research centre in Southampton will focus on sight loss is incredibly encouraging for me as a parent.”
