Child with albinism.

The impact of glare on reading

Researchers are investigating the impact of glare on young children with albinism and nystagmus to help ease important day-to-day tasks like reading.

Jointly funded by Nystagmus Network and Fight for Sight, a team of researchers at the University of Leicester will be investigating glare in patients with infantile nystagmus.  

People with nystagmus often experience glare, but this has not been researched thoroughly despite the discomfort it can cause and the impact it has on reading.  

Led by Dr Frank Proudlock, the study will measure the effect of glare by testing reading overlays, tinted contact lenses and other means.

Although there are several devices that doctors use to measure glare in eye clinics, few of them have been tested as to how well they measure glare in nystagmus. Also, it is very difficult to measure glare in young children.

The team at University of Leicester will study four groups of people: people with albinism; people with idiopathic infantile nystagmus; people with achromatopsia; and people without nystagmus.

The team hopes the study will help doctors to make reliable measurement of glare in people with infantile nystagmus, especially in young children.

Understanding how glare can affect reading in people with infantile nystagmus and ways of managing it will help provide useful information to parents, teachers, doctors and patients to come up with the best solutions for reading at home, work and at school or university.

Keith Valentine, Fight for Sight CEO said:

“We’re pleased to continue our important partnership with the Nystagmus Network, funding these vital projects. With one person in every 1,500 people having nystagmus, it’s vital that we fund research that can help improve lives and make sure children and adults with nystagmus live their lives to the fullest.”

Donate to the Nystagmus Network research fund here

The logo of international Albinism Awareness Day

International Albinism Awareness Day, 13 June

We are delighted to mark international Albinism Awareness Day with our friends living with albinism both here and across the world and especially with Albinism Fellowship UK.

Find out more about the 2022 theme – United in making our voice heard on the United Nations website.

Jay Self

Does albinism protect against AMD?

We are seeking potential research candidates on behalf of researchers in Southampton (Jay Self and Helena Lee) who must be over the age of 60 and have any form of albinism (OA, or OCA). Thank you to those who have already responded. We have already found 12 people, but we really need 20 for a viable study. If you or anyone you know fits the bill, please read on …

Jay and Helena are seeking to understand two questions which have baffled researchers for some time and they need your help:

1.       Why has Albinism and Age Related Macular Degeneration (AMD) never been seen in the same patient when AMD affects 1/3 of people over 75? Are people with Albinism protected from this condition?

2.       Why does the retina lose function late in older animals with Albinism, but apparently not in humans?

If anyone with Albinism, who is over the age of 60, would like to help Jay and Helena find answers to these important questions, please complete the form below. Please note that by completing the form you are giving us your permission to pass on your details on to the relevant research team.

Thank you.

Albinism Fellowship logo

Albinism Awareness Day

Zoom celebration for International Albinism Awareness Day on 13 June 2021

Guest post from Roselle Potts, Chair of the Albinism Fellowship

To mark International Albinism Awareness Day* on 13 June the Albinism Fellowship is running a mini conference on Zoom.

The event will kick off at 2pm and after a brief introduction session there will be 3 choices of session to join in with:

1. A session for parents whose children have been newly diagnosed with Albinism.

2. A ‘cook along’ session for children and teens.

3. A discussion session for adults with Albinism.

Roselle Potts, Chair of the Albinism Fellowship, said: “ During the past difficult year of Covid-19 and lockdowns we have used technology to enable people with Albinism and their families to continue to connect, share and celebrate. We hope that lots of our community will join in on 13 June”

To find out how to sign up for the mini conference go to https://www.albinism.org.uk/events/international-albinism-awareness-day-zoom-gathering/

  1. For more information about the Albinism Fellowship Baby Box Scheme, or for interview and photo requests, please contact Roselle Potts at the Albinism Fellowship email: [email protected]
  2. For more information about the Albinism Fellowship, which provides help and support to children, their parents and adults with albinism in the UK and Republic of Ireland, please visit: https://www.albinism.org.uk/about-the-fellowship/
  3. About International Albinism Awareness Day*. International Albinism Awareness Day is marked every year on 13 June to celebrate the human rights of people with Albinism around the world. It is marked with specific events in various countries, social media activity and campaigns. The United Nations’ General Assembly proclaimed 13 June as this specific day with a resolution it adopted in 2014.
Researcher, Matthew sits at a desk looking at his laptop.

Matthew’s research on albinism

Matthew is a second year BA Geography student at Northumbria University, Newcastle. He also happens to have oculocutaneous albinism. He is passionate about increasing academic knowledge on the subject of albinism. His research is for a final year undergraduate dissertation project.

Albinism, like many other disabilities, has the potential to have an impact on everyday life. The purpose of Matthew’s study is to enable those with albinism to tell their individual stories and have their voices heard in academic literature.

Matthew aims to show the extent to which albinism impacts people’s everyday lives, including in comparison with other social factors, and explore the measures people take to minimise that impact.

The study takes the form of an online or telephone interview with Matthew. There will be questions about everyday life including work, leisure and socially experienced attitudes. The interview will be 100% anonymous and follows university ethical guidelines.

Participants must be 18+ and have albinism.

To find out more and express an interest in taking part, please contact Matthew by email at [email protected]

The logo of the Albinism Fellowship

Welcome boost for new mums and dads of young children with albinism

Guest post from Roselle Potts, Albinism Fellowship

For more information, please contact Roselle Potts, email: [email protected]

While the birth of a new baby is an occasion to celebrate, parents of children born with albinism often find that support for children with this rare genetic condition is hard to access.

To mark International Albinism Awareness Day* on June 13th, the Albinism Fellowship has stepped in with a new Baby Box scheme. This is available for all families who have a child with albinism who is under one year old and who become paid up members of the charity for the sum of £20 per year. The charity has obtained grant funding for this project and the items in the baby box

From that date, mums and dads will receive an Albinism Fellowship baby box as part of their membership. This contains items to help parents meet the specific needs of their young child; sunglasses, a factor 50 SPF sun protection hat, sun cream samples, a high contrast book and sensory toy as well as the Fellowship’s Understanding Albinism booklet.

Roselle Potts, Chair of the Albinism Fellowship, said: “The arrival of a new baby in the family is a joyful occasion, but when parents find their child has albinism, this can prompt many questions and even concerns. Children with albinism are visually impaired and very sensitive to the sun meaning they need extra care. “

“As the only charity in the UK and Republic of Ireland for people with albinism, we have around 40 years’ experience in helping mums and dads of young children with albinism.”

She added: “The baby box is an exciting new initiative which we are sure will be welcomed by new parents of children with albinism. When we chose which items to include in our ‘baby box’ we looked at the most common queries raised by new parents.

“They often ask us questions about how to protect children from the sun and how to best stimulate their babies’ sight, as children with albinism live with high degrees of visual impairment.”

Rachel Whyte, who received the first baby box for her son ( pictured with his book and glasses) said

“The baby box from the Albinism Fellowship was a gratefully received addition to the support they have already given my family. Having something in my hands meant I could use the helpful advice without having to worry about sourcing the right items. It gave me ideas of the right creams and hats to use and my son loved the easy grip brightly coloured balls. Thank you so much, we love it!”

Notes to editors

  1. For more information about the Albinism Fellowship Baby Box Scheme, or for interview and photo requests, please contact Roselle Potts at the Albinism Fellowship email: [email protected]
  2. For more information about the Albinism Fellowship, which provides help and support to children, their parents and adults with albinism in the UK and Republic of Ireland, please visit: https://www.albinism.org.uk/about-the-fellowship/
  3. About International Albinism Awareness Day*. International Albinism Awareness Day is marked every year on June 13th to celebrate the human rights of people with albinism around the world. It is marked with specific events in various countries, social media activity and campaigns. The United Nations’ General Assembly proclaimed June 13th as this specific day with a resolution it adopted in 2014.
The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 7

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 7: Can you tell us about gene studies and personalised medicine and how that might be a breakthrough for nystagmus?

(JS) The main development in genetics is being able to do loads of sequencing. That means finding out all the genes that lots of individuals have, what their particular spelling changes are and how they’re different to everybody else. That’s part of the 100,000 genome project.

The problem we have is then interpreting all that material. All of us will have a few million variants that are different from each other, that we shouldn’t really have or that we haven’t seen before. When you test 3.2 billion things you find all of this data and the question is that we haven’t all got a million diseases so some of them are causing things, some aren’t. It’s all about interpretation. This is where diagnostics comes in. We are getting better at that. It will lead to being able to group patients better. So when you then go on to test things or see what happens during life, or to see whether having funny toe nails really is related to nystagmus, you can start to look at groups and what these conditions are and then what you can do about them.

The second thing about gene therapy and gene changing, that absolutely is relevant. There are quite a few retinal conditions which cause nystagmus for which gene therapy is already going through. There’s one which is now NIHCE approved. This is going to be available through the NHS as one of the first ever gene therapies. It’s for a type of RP called Leber’s.

Gene therapy is a potential, but it goes a bit further than that. There are various drugs now which we know can change certain spelling mistakes. There are also some albinism changes that we’ve looked at before.

There are lots of other potential medical therapies which might change genetic outcomes. This is where this all might contribute, but we need to keep refining and refining the patient groups stage. There is no way any of that is going to work as a panacea.

It’s one thing to look at nystagmus as an end point. All this is about looking at the opposite end, at very specific changes.

Quite often, if you’ve got a single gene that causes a disease, some drugs might only work if it’s a particular type of spelling mistake in a particular part of that gene, if you happen to be male, etc. So you can end up with tiny numbers. One of the challenges is that originally gene therapy was reported as being able to correct spelling mistakes. But if you have 4,000 spelling mistakes you can’t develop 4,000 different gene therapies. So the idea now is to develop gene therapies that replace bigger chunks to treat more variations or more patients.

(HL) As we understand how the disease is developing as a result of each of the spelling mistakes, we’ll also understand how to target the treatment. It might not necessarily be gene therapy. It might be something as simple as a dietary supplement. We need the genetic test then we can say you can benefit from this combination of things. You need this and this to start with. We know this is how your disease will turn out, we know that this type of gene therapy would probably be pointless for you. The idea with personalised medicine is that each person goes in and comes out with a different set of advice and guidance or treatment.

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 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.

The Nystagmus Network logo and the words nystagmus research

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.

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 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.