treatment – Nystagmus Network

Your nystagmus research questions answered – question 6

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher

Question 6: What is your current research focus?

(HL) I’m mainly funded to develop the L-Dopa treatment for albinism. That is essentially in two parts. In the lab what we’re trying to understand is how L-Dopa influences retinal development and how a lack of that, which is what happens when you lack pigment, causes the retinal problems and subsequently the visual problems. Then we’re looking at how replacing that can help reduce the disability caused by the lack of L-Dopa. We’ve done this in albino mice and they’ve done really well.

The second phase is when we take this to a small pilot trail. We work with a group of children who have a diagnosis of oculocutaneous albinism. That is only one type of albinism. It’s quite specific, but it’s a start. What we’re trying to do is make the retinal development more normal in those children, so it prevents them having the level of visual disability they would have had.

(JS) We’ve also been focusing on genetics. We developed a platform so people could be tested. We’re also looking at why we don’t always get a result by working on lots of background genetics. One of the things we’re finding is that there are lots of different types of albinism but they all cross over massively. This is why there are so many patients with clear albinism who get a partial result, which doesn’t make sense. It’s because they’ve got lots of contributions from lots of different genes.

We’re also looking at some very early phased treatment. We developed some cell assays. These are little cells which have albinism. We can put these cells on plates and throw loads of drugs at them. These are drugs which might work for various reasons or even massive batteries of drugs where we have no hypothesis about why they would work, but because you can scale it up to 1,000s and 1,000s you can just get random hits. That’s how pharmaceutical companies develop new drugs for things.

We’re also doing a bit of work on outcome measures. In a lot of the clinical trials the question is ‘in what way has it helped nystagmus?’ Has it made the wiggle less? Have people tested that just by looking or just asked the patients ‘Do you think your eyes wiggle less?’ Have they done vision tests, bearing in mind that we know that vision isn’t really a very good test.

There are loads of things which patients have said have changed things massively for them, but none of the things we test are any better. So, we’re trying to develop proper outcome measures.

We’re also doing some work on questionnaire studies. Are you registered? Are you getting support?

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

Your nystagmus research questions answered – question 5

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Question 5: What are nystagmus researchers currently focused on?

(JS) There are lots of different avenues. There is an element of ‘If you’ve only got a hammer, every problem looks like a nail’. What I mean by that is that I’ve got a background in genetics, so I will look at all the ways genetics can help with nystagmus. We both have a background in clinical trials, so we always look at ways we can test things. If you’re an eye movement person who’s done 30 years of eye movement research you’re always going to look for an eye movement avenue. There are different people with very different expertise. We really need to broaden the net, because there will be people whose research is based on a particular molecule and they’ll try and work out how that is relevant to nystagmus. The more people you have and the broader it is, what tends to happen is that things start to come together and you get collaborations. Or there’s a totally different avenue of science that none of us even knows about.

The work that the Nystagmus Network are doing to try and broaden it out with broad calls for research is a brilliant idea. You never know. You could get people coming in from a totally different angle which might seem crazy or we’ve just never heard of that technology and suddenly that’s the thing that unpicks one part of it.

There are lots of people doing lots of different things, but you can always get more. There are themes to the answer. Lots of people are looking at diagnostics. People like me from the genetics point of view. There are quite a few looking at the use of eye trackers to help with diagnostics. There are others focusing more on support and wellbeing. Then there’s the treatment group as well.

There are also people looking at other conditions, such as retinal dystrophy researchers. Nystagmus is a major part of their phenotype, but, if you asked the patients, they wouldn’t tell you they’ve got nystagmus, they’d say they’ve got RP or cone dystrophy, or whatever. The nystagmus is just considered part of it from their point of view.

When we go to American Nystagmus Network meetings everyone is joined together by their common nystagmus and actually nobody thinks beyond that or questions why their sight is particularly bad or another person’s really good. It’s because they’ve all got completely different conditions.

There are 3 different groups of patients with nystagmus. There are those with neurological problems of which there is a huge long list, not just the acquired nystagmus cases but also children born with various neurological conditions. Then there are the ones with significant eye problems. For example, anybody born with very poor vision will get nystagmus. Then there is the group where it’s a bit more mixed, where nystagmus is a part of it. In that group I include people with idiopathic nystagmus, subtle aniridic changes or albinism.

Research is still going on into the neurological causes. Neurologists would, however, probably be about 5 sentences in before they mentioned nystagmus, because it’s not considered the main part of the phenotype.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

Fight for Sight launches survey on impact of Covid-19 on people with eye conditions

Eye research charity Fight for Sight has launched a survey to gather broader insights into the personal impact that Covid-19 is having on people with sight loss and eye conditions.

The charity is inviting those affected by sight loss or an eye condition to participate in the survey, to help its campaign on behalf of people with sight loss and strengthen the case for urgently needed eye research funding. The survey will examine the impact that Covid-19 is having on people’s access to treatment, personal wellbeing and concerns for the future.

At the beginning of 2020 Fight for Sight carried out one of the largest surveys of people with sight loss and blindness to understand the personal impact of sight loss. With the advent of Covid-19, the charity is following up with further research to gain insight on how the pandemic has had an impact. All results will be published later in 2020.

Prior to the Covid-19 pandemic, eye research was already woefully underfunded, with only one percent of national research funding invested in eye research, even though twenty percent of people in the UK will experience serious sight loss or blindness in their lifetime. The problem is also on the increase – figures show that the number of people in Europe with the leading cause of blindness, age-related macular degeneration, is projected to hit 10 million by 2050.

Chief Executive at Fight for Sight, Sherine Krause, said: “This is a challenging time for everyone, but we know from anecdotal evidence that the current pandemic and lockdown is having a particularly harsh effect on those living with eye conditions and sight loss. We know that science ultimately has the answer to so many challenges – the power of science will help us stop the pandemic in the coming months, and we are working to ensure it will also help us stop sight loss and blindness in the future. We urgently need the input of those affected so that we can understand how they have been impacted by Covid-19 and campaign on their behalf. The findings will also help us to make the case for the importance of eye research now and in the future.”

Participation in the survey involves an online questionnaire in which respondents answer questions on how Covid-19 has impacted their lives. The survey will take no more than ten minutes to complete. Participants will help Fight for Sight in its mission to transform the eye research landscape and secure vital funding for pioneering research.

To participate in the survey, you must be aged 18 or over, living in the UK, and personally have an eye condition(s).

You can take part in the survey at this link.

30 years of nystagmus research – what a difference it has made

When my daughter was 6 weeks old a paediatrician at baby clinic told me she was blind. Just like that. No preamble. It was a devastating experience, a cruel message, bluntly delivered.

I went to see my GP, whom I knew well and trusted. She confirmed what I already suspected. My daughter wasn’t blind, but she did have something wrong with her eyes.

My doctor wrote the word nystagmus on a compliment slip and handed it to me. She couldn’t tell me any more. I had so many questions, but she had no answers for me. She made me an emergency appointment (another scary thing to hear at this point) with the ophthalmic hospital. It took two weeks to come through.

There followed a barrage of tests, each more alarming than the last, and at the end of it all we still had nothing but that ugly word, nystagmus.

I keep that compliment slip to this day as a reminder of how far we have all come. It’s what spurs me on to support other parents and raise awareness and understanding of this complex condition.

Since the early 1990s the Nystagmus Network has campaigned for and invested in nystagmus research whenever funding permitted. Thanks to the generosity of our supporters, there has been a substantial sum invested nearly every single year.

In the past 30 years clinicians have gained so much knowledge about this truly Cinderella condition: how to diagnose it, which of the many possible causes may be responsible for it and even how well a child will be able to see. They have also learned a lot about delivering worrying news to a parent.

Today researchers stand poised to unlock genetic secrets, manipulate enzymes and stop nystagmus in its tracks.

We have come this far together in just 30 years, a period which has seen the birth of the internet, the end of apartheid in S Africa, the fall of the Berlin Wall, the credit crunch, a decade of austerity, Brexit and, today, a global pandemic.

Who knows what is to come next for our brave new world? One thing is for sure. The Nystagmus Network will still be here, making your voice heard, working alongside the best brains in the country to find effective treatments and yes, eventually, a cure.

With your help, we can do this.

To donate now to the Nystagmus Network research fund, please click here.

THANK YOU.