Mike Larcombe with Jay, Helena, Harsh and Sue at University Hospital Southampton.

Meet me in Southampton

This August the Nystagmus Network was finally able to meet with and celebrate the incredible achievements of a true nystagmus superhero, Mike Larcombe.

From December 2019 and for a total of three and a half months, Mike walked the entire length of New Zealand (yes! the North and the South Island!) following the Te Araroa pathway to raise funds for nystagmus research and awareness of the condition.

Along the way he endured very wet feet, a constantly rumbling tummy and often only the company of chickens!

As if that were not enough, in 2021 he was at it again, cycling (and singing!) all the way around Tasmania.

In total Mike has raised a whopping £6,500 for nystagmus research!

His feet were nice and dry this week as he chatted with Jay Self and Helena Lee, researchers and clinicians at University Hospital in Mike’s home town of Southampton along with Harshal Kubavat and Sue Ricketts from the Nystagmus Network. During their visit the group toured the clinics and research labs to find out where some of that hard earned fundraising money goes.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 3

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 who has been researching nystagmus for around 15 years since studying nystagmus for his PhD. He runs specialist nystagmus clinics and researches primarily cause and diagnosis and treatment of albinism since around 50% of his nystagmus patients seem to have albinism.
Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher, currently working on developing a treatment for albinism.

Question 3: Would it cause more problems to stop the eye wobble?

(HL) We have very poor understanding of nystagmus, why it occurs and why it’s happening in the first place. We do know that for adults who acquire nystagmus, it’s horrendous because they haven’t compensated for it. The entire world moves around them. So for them it is worthwhile stopping the wobble, because their visual system has developed to work with eyes that are steady.

In some children with nystagmus, we know that when we perform certain kinds of surgery for their null point so that their eyes can be more steady, it does seem to improve their visual function. Just this experience would seem to suggest that reducing the wobble helps to some degree. Eliminating the wobble entirely is a difficult one to answer, because in how many people have we managed to do this? And how can we ask them whether they’re better off with or without it?

(JS) I would agree. I think it’s unlikely that, if we stopped it, it would make visual function worse. People have done experiments with gaze contingent visual tracking so that they look at a screen and wherever their eye looks the image moves to it, so in theory they are simulating removing the nystagmus. It does seem to help with speed of seeing. They haven’t reported having any specific problems, but obviously that’s a simulated scenario. I think it’s unlikely.

The question probably arises because we’ve talked for years about nystagmus being a compensation mechanism for something going wrong. One way of thinking about it is that it’s not an effective compensation. It doesn’t really achieve what it’s trying to achieve, as far as I’m aware.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

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.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 2

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 who has been researching nystagmus for around 15 years since studying nystagmus for his PhD. He runs specialist nystagmus clinics and researches primarily cause and diagnosis and treatment of albinism since around 50% of his nystagmus patients seem to have albinism.
Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher, currently working on developing a treatment for albinism.

Question 2: Why isn’t there a focus on cure?

(JS) Sometimes people’s focus changes from cure to what we can do right now to help people in education and so on. I think the honest answer is that all of these things need to be addressed, often by very different groups of people. There are some quick wins and some slower ones. It’s a multi-team effort. It doesn’t mean that one team is more important than the other.

For quite a while we have said that diagnosis is more important at the moment, because it’s very easy to test drugs and do clinical trials, but actually you’re never going to get funding for it and it’s not very likely to work unless you have a very good argument as to why it will work and for that you have to have specific groups of patients.

Cure has lagged behind, but we are getting there thanks to Helena’s work on L-Dopa. And there are a few other things. But if there’s one thing we should focus on, for me it’s getting to the bottom of what’s causing it.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

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.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered

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 who has been researching nystagmus for around 15 years since studying nystagmus for his PhD. He runs specialist nystagmus clinics and researches primarily cause and diagnosis and treatment of albinism since around 50% of his nystagmus patients seem to have albinism.
Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher, currently working on developing a treatment for albinism.

Question 1: Will there ever be a cure for nystagmus?

Answer: (JS) Nystagmus is the result of a lot of different things going wrong. Traditionally, to try and find a cure for anything you really need to know what that thing is that has gone wrong and quite often it requires very different treatments. It’s a bit like trying to find a cure for stomach ache. You’re never going to find a cure that treats all types of stomach ache. You need to find out what the cause is and then look at lots of different treatments.

There is also the opposite way of looking at it. If nystagmus is the final result, is there something that can be done to stop the eyes from ‘wiggling’. Will that actually help? In some situations and for some people I think it would. For instance, if you’re an adult and you have acquired nystagmus and oscillopsia because your eyes are moving all the time, that is horrendous. So if we could find a cure for that part you might say you don’t then need to know what the underlying cause is.

So there are different ways of looking at it, but I think a single panacea for nystagmus is very unlikely. I don’t think anyone is going to invent a pill which corrects all the underlying causes.

(HL) I would agree with that. It also depends on what you define as a cure. Is it getting rid of the wiggle entirely or is it to deal with some of the side effects of the nystagmus? We will be able to help with a lot of that in time. It’s just a question of dealing with each problem as they come along and dealing with it on an individual basis. Some people may not be bothered by the wiggle but by the visual function. Some people care more about how their eyes look.

But Jay and I remain optimistic that by the end of our careers we will have found some sort of cure for everything that causes nystagmus.

(JS) An added complication is that there are different types of albinism which have their own causes, so one type of treatment might be appropriate for one type of albinism and not for another. The final level of complexity is that things often depend on who you are and where you live. For example, if you live in sub-Saharan Africa the colour of your skin may be the most important thing to you if you have albinism. If you live in Scandinavia or Europe, the colour of your skin may be way down the list and the vision or the nystagmus may be more important to you.

Nystagmus researchers have for a while talked about developing a kind of toolkit which can be added to. For example, for other conditions you have lots of different tools which can be used in different scenarios. That’s the end point we would really like to get to. It’s going to be slow. It will take a long time. There will be advances in some areas, whereas others are falling back a bit. It’s a levelling process. It’s going to take a while.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

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.

Researcher presenting at Open Day.

More rejections than Harry Potter?

 

A report by John Sanders who, at different times, has been a Nystagmus Network trustee, as well as an employee and continues to be a member of the charity.

The other day I went to a talk entitled “My wobbles through the world of nystagmus” by Southampton based ophthalmologist, Helena Lee. This was part of Cardiff University’s School of Optometry and Vision Sciences’ “Cornea to Cortex” series of lectures.

Helena’s key message was: “We are making progress in understanding nystagmus, but it’s not easy.” For instance, Helena has done ground-breaking research into the use of OCT (Optical Coherence Tomography) scans as a diagnostic tool for nystagmus. Her research has been published and its findings are now pretty much accepted, but only after numerous rejections.

It’s largely thanks to Helena’s persistence (supported by colleagues in Leicester and Southampton) that OCT is now available for some children with early onset nystagmus (aka congenital nystagmus). Six years ago no-one even knew whether or not you could use an OCT scanner on an infant with moving eyes.

Some of the obstacles to answering that question were pretty basic. It was only through trial and error that Helena learned how to get one year olds to sit still long enough to scan their eyes. Making sure they’re fed and having the right cuddly toys to hand helps greatly.

Next, when you have the scans, how do you know what a normal infant retina looks like? And how might it differ in a child with nystagmus, achromatopsia or albinism? No-one knew the answer to those questions either. So Helena and her colleagues had to create a database of OCT scans from hundreds of children. Some had conditions like nystagmus, while others had no eye conditions.

Visible benefits
Thanks to that project, OCT scans are now providing benefits for families affected by nystagmus. The scans help provide a faster, more accurate diagnosis of nystagmus and its possible underlying causes. If you know the likely underlying cause, it often means you can give the family a better idea of how a child’s vision will be affected by nystagmus when they grow up.

In the longer term, early diagnosis may even lead to early intervention and treatment, which could in turn mean better vision. Note to adults (including me): the emphasis is on the word early. Helena’s work suggests there may be a window of opportunity in infancy to intervene before the eyes fully develop. Miss that opportunity and it’s much less clear whether treatment may be possible in adults.

As for the nature of treatment, at the moment it looks possible that it may be gene based. That’s one of the areas where Helena expects to see progress in the coming years. For now, though, the reality is that even OCT as a diagnostic tool for nystagmus in children is available in only a handful of UK hospitals. On top of that, getting research funded is not easy.

Lots more questions
Helena applied for and was turned down 11 times for funding for a project to look at a possible treatment to improve vision in infants with albinism. She reckons that’s more rejections than J K Rowling had with the first “Harry Potter” book. Finally, Helena struck lucky with an MRC (Medical Research Council) grant, but admits she was tempted more than once to give up her dream of pursuing research.

And we do need more research, because there are so many unanswered questions about nystagmus. For instance, does nystagmus cause the abnormalities in the eye picked up by OCT scans? Or do those abnormalities cause nystagmus? Initial signs are that the answer is likely to be complex and involve both the eye and the vision system in the brain.

One final thought that some may find surprising. Even if early intervention and treatment does become possible, current evidence suggests that simply stopping nystagmus in infancy won’t necessarily lead to normal vision. Hopefully it will lead to better vision than no intervention at all, but at the moment we can’t even be sure of that.

John Sanders
March 2018