Research into albinism could be good news for babies born with nystagmus

Dr Helena Lee from the University of Southampton was happy to announce this week the publication of a first paper from the OLIVIA study which shows the potential for L-DOPA treatment to improve the vision in albinism.

This means that the sight of newborn babies with ocular albinism could potentially continue to develop and improve with treatment.

Delegates at the Nystagmus Network Open Day later this year will hear first hand from Helena on the progress of her work with L-DOPA.

Meanwhile, you can read the article in full, here.

Jay Self wearing scrubs.

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. 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.

Jay Self wearing scrubs.

Researchers study whether albinism could protect against AMD


23 August 2018

Researchers in Southampton are in the early stages of a pioneering study which aims to discover if albinism may protect against a leading cause of sight loss.

Despite age-related macular degeneration (AMD) affecting a quarter of people over 65 and half of people over 85, clinicians have very rarely, if ever, seen a patient with both conditions.

Now, Mr Jay Self, a consultant ophthalmologist at University Hospital Southampton NHS Foundation Trust, and his team are looking to recruit anyone over 65 with albinism to find out more.

The condition is caused by faulty genes that a child inherits from their parents and affects the production of melanin, the pigment that colours skin, hair and eyes.

People with albinism can have pale skin which burns easily in the sun, white hair, poor vision, a sensitivity to light and involuntary eye movements.

AMD, which causes a gradual loss of central vision, is the biggest cause of sight loss in the UK.

“It has been an odd observation for many years that no-one can ever remember seeing a case of AMD in someone with albinism – therefore, something is going on,” he said.

“So far, using various online resources and enquiries, we have amassed a grand total of seven people in the UK over 65 who report having albinism at all and none who have been given both diagnoses.”

Mr Self, who is also an associate professor of ophthalmology at the University of Southampton, said research has shown the retina loses function in older animals with albinism but this is not clear in humans.

“We have researched this topic extensively from the records available and have this interesting phenomenon which we need to know more about and investigate further.

“It has even been suggested that the albinism itself may ‘protect’ against AMD which would be a very important finding to aid further study into both conditions.”

Anyone who is interested in joining the study can contact Mr Self on email at [email protected] to find out more.

This project is part of a programme of work at UHS, led by Mr Self and Dr Helena Lee, looking for potential ways to treat albinism and nystagmus, a condition which causes the eyes to ‘wobble’ and creates strobe vision.

In a separate study within the programme, Dr Lee, was recently awarded a £1.4 million Medical Research Council (MRC) clinician scientist fellowship to investigate the role of levodopa – a drug more commonly used to treat Parkinson’s disease – in improving visual development in infants and young children with albinism.

Nystagmus research – a progress report

The Nystagmus Network is funding equipment and testing to underpin nystagmus research taking place at Cardiff University School of Optometry and Vision Sciences, in collaboration with the genetics research team at the University of Southampton.

On behalf of the Cardiff team, Nikita Thomas reports:

“Our study attempts to investigate how visual function in Idiopathic Nystagmus is related to the formation of the retina. This will improve knowledge regarding how IN is initially established and the developmental components that eventually contribute to poor visual acuity.

A better understanding of how IN develops may in turn help us interpret its main underlying cause and the likely benefits of treatment in infancy, including the timing and method(s) of potential intervention.”

Researchers are developing techniques to measure more accurately the visual acuity and peripheral vision of a person with nystagmus, taking into account eye movements and any null point. It is thought that, not only will this work revolutionise the way that sight and vision loss are measured in nystagmus patients, but it will also bring greater insight into the development of sight and the onset of nystagmus itself.


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

University Hospital Southampton Questionnaire Study 2017

Would you like to participate in a study researching the support and information available for people with Nystagmus and their families? The team based at the University Hospital Southampton are running a short study – if you would like to get involved please get in touch by completing the form below. By completing the form you are giving us permission to pass on your details to the relevant research team.
Thank you.