LOOKING AHEAD

International Research Workshop (September 2009)

In September 2009, the Nystagmus Network is holding a second international research workshop following the major success of the first in 2005

Outcomes from the 2005 workshop included:

1. A full supplement of the US publication Seminars in Ophthalmology was dedicated to the content of the workshop (copy available on request)
2. Knowledge-sharing between the participants
3. Increased collaboration, exemplified by:
   • UK/ German collaboration
   • US/UK collaboration
   • Leicester/Institute of Child Health data sharing
   • Plymouth/Cardiff data sharing

We have invited 40 participants to the workshop from a range of disciplines including ophthalmology, neurology, neuro-anatomy, neuro-physiology, vision science, mathematics, engineering, electro-physiology and genetics. The first provisional agenda for the workshop, titled: Challenging Nystagmus: Pathways Towards Treatment, has been drawn up and workshop topic leaders identified. The core topics of the three-day workshop will be:

• Mechanisms (causes of Nystagmus through research on developmental biology, wave forms, sensory, functional genetics)
  
• Management (treatment of Nystagmus through research on genetics, drugs, surgery and non-invasive methods)
  
• Perception and action (impact of Nystagmus and consequences for education, sport, employment, mobility, stress and quality of life).

The workshop will cost an estimated £40,000 to fund, including publication of the book.

The Nystagmus Network is able to fund £10,000 of the cost, but as an organisation with limited funds and ongoing research commitments it is seeking a further £30,000 to cover the costs of the event.  Our fundraising plan is to achieve this through a combination of membership efforts, corporate and trust funding.

MILESTONES

NN publishes research on head posture (June 2008)

Researchers in Swansea have shown that most patients with a compensatory head posture “had some limitation of movement when compared to volunteers without nystagmus.” A summary of this research project appears in the summer issue of NN’s Focus newsletter.

RNIB looks at nystagmus and iris recognition (May 2008)

The RNIB and NN are to co-operate on research into the use of iris scanning equipment on people with nystagmus. Experts have questioned how effective iris scans will be on people whose eyes constantly move. However, until now, no-one has studied this question in detail.

This research is important, since the UK Government among others is keen to introduce iris scanning equipment for security checks at airports and elsewhere.

NN starts work on second international research workshop (April 2008)

NN is organising the second international research workshop into nystagmus for September 2009. This invitation only event will build on the success of the 2005 workshop, which sparked an upturn in nystagmus research activity around the world. As well as the mechanisms underlying nystagmus, the 30 plus delegates will look at practical ways to help people better manage nystagmus.

NN funds genetic research (October 2007)

NN has awarded the University of Southampton a £10,000 grant for a genetics research project over the next 18 months. This is one of the biggest grants NN has ever made and shows our commitment to funding groundbreaking research in the exciting field of genetics, commented NN chairman Tim Horsley.

Research ophthalmologist Jay Self thanked NN for the grant, adding that the project should aid the future diagnosis and treatment of nystagmus. “Among other things we hope to find out if a genetic test would be helpful in the diagnosis of babies with unexplained nystagmus. This could significantly increase the speed of diagnosis for some patients and exclude the need for the current battery of invasive and time consuming investigations,” he said.

Knowing the diversity of genetic causes of nystagmus in individual cases will also help with subsequent patient information and genetic counselling for these individuals, said Jay. “Therefore, the outcome of this part of the research will have a very direct impact on nystagmus patients.”

If you would like to consider taking part in this research, you can contact Jay by email at J.E.Self@soton.ac.uk.

NN has previously funded projects in Cardiff, Leicester, London and Plymouth, as well as the first international nystagmus research workshop in Abingdon in 2005.

Eye Hand Coordination (June 2007)

Preliminary findings by researchers in Manchester indicate that the majority of people with Infantile Nystagmus (also known as Congenital Nystagmus) reported severe difficulties with general mobility and a substantial number found difficulties with eye hand coordination. Specific problems relating to eye hand coordination included picking objects up and playing sports and the majority of those affected placed themselves in the severe category.

A full report on this research is available in the June 2007 edition of NN’s “Focus” newsletter (number 75)

US research meeting (May 2007)

A meeting entitled “Advances in understanding mechanisms and treatment of infantile forms of nystagmus” took place at the Daroff-Dell'Osso Ocular Motility Laboratory, Cleveland, Ohio in May. Photos are at http://www.omlab.org/OMLAB_page/About/DD_omlab/Conference%202007/conference.html. You can see a copy of the programme and summaries of the presentations at http://www.omlab.org/OMLAB_page/About/DD_omlab/Conference%202007/conference%20program.htm,

Pilot Drug Study Completed (January 2007)

The Department of Ophthalmology in Leicester, England, has completed a pilot study into whether or not certain drugs may reduce the effects of Congenital Nystagmus (CN). Researchers in Leicester report that the initial findings of the pilot are promising.

They are now seeking funding for a larger study. If you are interested in taking part please contact Rebecca McLean (phone: 0116 2586290 or e-mail rjm19@le.ac.uk).

Volunteers should be aged over 18, have congenital nystagmus and be able to travel to Leicester. The research has been approved by the relevant Hospital ethics committees.

Nystagmus Gene Discovered (autumn 2006)

Researchers in the UK and elsewhere have found the first gene for nystagmus. What this breakthrough will mean in the long term is hard to say, but they are already looking into the development of a simple genetic test. This would allow earlier diagnosis and improved genetic counselling for families.

At the same time, researchers are investigating the function of the previously undiscovered gene -- known as FRMD7 -- to find out exactly how it causes nystagmus in infants. Professor Irene Gottlob of Leicester University said: “We now know which protein is abnormal. This allows us to investigate how over or under-expression of this protein influences functioning of brain cells. We can also look in more detail where the changed protein is located in the eye and brain.”

Commenting on the discovery, Chris Harris, Professor of Neuroscience at the University of Plymouth and a scientific adviser to NN, said: “This is really good news. This gives us a whole new way to look at nystagmus and could result in huge implications for people with nystagmus.”

However, FRMD7 is unlikely to be the only gene linked to nystagmus, so researchers are keen to see more families and single people affected by the condition. The Leicester team is already working with researchers at the University of Cambridge and elsewhere in the hunt for other nystagmus genes. Predicting when the next breakthrough will come is difficult, though, said Irene: “The speed of progress, as always, depends on further funding.”

Seminars in Ophthalmology – Nystagmus (summer 2006)

The April-June 2006 issue of this publication is dedicated to nystagmus. It contains articles on genetics, the visual and perceptive consequences of nystagmus and modelling nystagmus. Copies are available from the Nystagmus Network. Contact Paul White at email info@nystagmusnet.org for details.

International Research Workshop (September 2005)

In September 2005, the Nystagmus Network organised and part funded the first ever international research workshop on nystagmus.

The aim of the workshop was to "consider what research and work must be done to create the pathways towards possible cures for the oscillations and the associated visual impairment."

The workshop was held in England and was attended by more than 25 medical and scientific experts from Europe, the USA and Australia. Comments from delegates included:

• “It was uniformly excellent.”
• What was the best feature? – “To have all people together for 2.5 days and discuss aloud.”
• “Very interesting to be able to concentrate on the topic for such a long period.”
• “The presentations have given me a new angle from which to attack my developmental research.”
• Will you be following up new initiatives as a result of the workshop? – “Yes. I will collaborate with two groups that I met here.”
• Is there anything NN can do to help you further? -- “Already significantly helping with recruitment of patients.”
• “Another meeting in four years please.”

COMPLEX CONDITION
The 18 presentations given during the three day event confirmed what we’ve suspected for a long time, namely that nystagmus and its causes are complex, very complex. There are no quick fixes, but advances are gradually being made in understanding the basic mechanics of nystagmus.

In terms of benefits for future generations or even people who have nystagmus now, we heard about potentially promising developments in genetics and drug treatment. Improving patient information and the quality of research results are also on the agenda.

During the course of the workshop, discussions covered everything from maths and biochemistry to neuroscience and retinal development, with talks on topics such as neural integrators, waveforms and burst cell firing. Not surprisingly, NN representatives were frequently heard to mutter: “Well, that went way over my head.”

But we grasped enough to see that the workshop was pushing at the very frontiers of science. Simply trying to agree what nystagmus is led to heated debate on day one. For example, on the question of whether nystagmus is present at birth, our experts agreed to disagree.

We are particularly grateful to the Esmée Fairbairn Trust (http://www.esmeefairbairn.org.uk/) for providing a generous donation towards the costs.

A full report on the workshop appeared in our autumn 2005 Focus newsletter.

RESEARCH AND VOLUNTEERS

FUNDING RESEARCH
The Nystagmus Network is currently funding several research initiatives in the UK and helping to find volunteers for others.

To support these projects and future research, please join NN. A growing proportion of our income goes into funding research. The bigger our income, the more research we can support.

Please note that, for cost reasons, projects mentioned on this website can only consider volunteers living in the UK unless otherwise specified.

FINDING VOLUNTEERS
Just as important as funding is finding volunteers to take part in medical, scientific, social and educational research. The more members we have, the more potential research volunteers we have and the quicker we can make progress in understanding and possibly treating nystagmus.

Vision scientists, doctors and other professionals increasingly contact us asking for help with research. We are very happy to assist where we can. So, if you're a student, ophthalmologist, optometrist, orthoptist, vision scientist, psychologist, teacher or have some other professional interest in finding out more nystagmus, please email us at johnsanders@clara.co.uk

We can help you by:

• Supplying volunteers
• Providing research topics
• Putting you in contact with other researchers
• Supporting your funding applications
• We may also be able to provide direct financial support, but our funds are very limited

CAN NYSTAGMUS BE CURED?

There are currently no miracle cures for nystagmus, but the UK Nystagmus Network supports and encourages medical and other research into this complex condition.

This is how the American Academy of Ophthalmology answers the question "Can nystagmus be cured?" in its information sheet "Eye Facts About Nystagmus":

"Sometimes, removal of the cause may improve nystagmus. Often, however, nystagmus is permanent. The reduced vision may be improved with glasses and low vision aids. If the eyes are more stable looking in a certain direction, glasses with prisms or eye muscle surgery may improve the head position and allow better vision. Medications, Biofeedback, and eye exercises have rarely helped control nystagmus."

For more information on treatments which may help some people with nystagmus, see the Nystagmus Network fact sheet "NYSTAGMUS: TREATMENTS, CURES AND RESEARCH" which is available free to members.

CURRENT UK PROJECTS

The following ophthalmologists and vision science researchers are looking for volunteers to take part in nystagmus research:

• CARDIFF *
  Debbie Wiggins, Cardiff University.
  WigginsD1@Cardiff.ac.uk
• LEICESTER *
  Professor Irene Gottlob, University of Leicester.
  Medical adviser to the Nystagmus Network.
  ig15@leicester.ac.uk
• LONDON
  Richard Clement, Institute of Child Health, London.
  r.clement@ich.ucl.ac.uk
• PLYMOUTH *
  Professor Chris Harris, University of Plymouth.
  C.M.Harris@plymouth.ac.uk
• SOUTHAMPTON
• Genetics research. Ophthalmologist and researcher Dr Jay Self is collecting saliva samples from people in the UK with nystagmus. The samples can be sent by post. To find out how to take part, email Jes3@soton.ac.uk

CARDIFF

Cardiff University
Cardiff University set up a Research Unit for Nystagmus in 2003 and is working on several projects. The University's Department of Optometry and Vision Science is looking for volunteers to take part in these projects.

If you would like information about taking part, please contact Debbie Wiggins at WigginsD1@Cardiff.ac.uk or Jon Erichsen at ErichsenJT@cf.ac.uk .

Null Point Research (Cardiff)
The Nystagmus Network has awarded a grant to Cardiff University's Department of Optometry and Vision Science to explore aspects of the null point.

The benefits of the study will include furthering our understanding of the consequences of nystagmus in real-world situations, especially in terms of the additional time needed to complete visual tasks. The study will provide a basis for the better design of workstations, desk layouts and the working environment for people with nystagmus, by establishing the optimum positioning of tasks for individuals with nystagmus.

LEICESTER

Leicester University
Pharmacological Research
"Treatment of congenital nystagmus with medication"
By Professor Irene Gottlob, Department of Ophthalmology, University of Leicester

Staff at the University have found that medication can improve the vision in some people with nystagmus. They have conducted a study to compare the effect of two different drugs in congenital nystagmus and also a placebo (pills that contain no active drugs).

Genetics Research (Leicester)
(see above)

Prevalence Research (Leicester)
HOW MANY? We should soon have an answer to that age-old question: "How common is nystagmus?" Leicester University is creating a "nystagmus register". The Nystagmus Network is part funding this important project which will survey one million people in the Leicester area.

The aim is to find out how many people have nystagmus. This is being done by asking hospitals, doctors and other professionals how many people they know with nystagmus. We hope to have the results some time next year.

Our best estimate at the moment is that between one in 1,000 and one in 3,000 people has nystagmus. In the UK, for example, that would work out at somewhere between 20,000 and 60,000 people. That's a pretty wide range. I know I'm not the only one who would like a more accurate answer than that, and not just because I'm curious to know.

There are a number of potential benefits. If we know how many people have nystagmus, it should make it easier to encourage more research. We'll also be to see over time whether nystagmus is becoming more or less common or staying roughly the same in terms of numbers. That information could be useful in a number of ways, for example when looking at the causes of nystagmus.

Most important of all, knowing how common nystagmus is will help us to ensure that everyone has the best medical help and treatment available, as Irene Gottlob, Professor of Ophthalmology at the University of Leicester, explains: "The register will not only let us know the number of people with nystagmus but also help us to know how many people have the best treatment and care. The next step will be to improve care."

If you live in the Leicester area are not sure whether you are on the register, email ig15@leicester.ac.uk now.

LONDON

Institute Of Child Health (London)
Richard Clement, a vision scientist at the Institute of Child Health in London, is involved in several nystagmus projects. Richard is researching a new approach to congenital nystagmus, which, as he says, "may lead to a new treatment to improve the visual acuity of infants with congenital nystagmus."

He is also working with others, including Professor Richard Abadi at UMIST in Manchester, on a project which may one day make it possible to prevent the development of nystagmus in some children at least. Although he works at the Institute of Child Health, Richard is looking for adult volunteers, so please contact him at r.clement@ich.ucl.ac.uk or his colleague Maria Theodorou at m.theodorou@ich.ucl.ac.uk if you live in or near London and are interested.

PLYMOUTH

Plymouth University
Professor Chris Harris, our scientific adviser, is a vision scientist at the Institute of Neuroscience in Plymouth University. Chris is interested in both the effects of nystagmus and in improving our understanding of the mechanism of nystagmus. You can find out more about his work at http://www.harrislab.com/

The Nystagmus Network is funding the following research at Plymouth:

A Biopsychosocial Study of Congenital Nystagmus.
Much has been written on the medical aspects of nystagmus and there is a growing literature on the educational effects of this condition. However, there is a dearth of research on the social aspects of this condition. What is it really like to live with this condition every day? What does having nystagmus mean to those affected by it? The aim of this study is to attempt to answer these questions by exploring the social impacts of nystagmus on the lives of people with this condition. Hopefully this study will raise awareness of nystagmus in public and professional communities.

Chris and his colleagues surveyed the membership of the Nystagmus Network for this project in 2004. The questionnaires produced a wealth of quantitative and qualitative data which they have presented at NN Open Days. They are also serialising the key findings of their research in our quarterly newsletter, which is sent to all members of NN.

Nystagmus Mechanisms. Separately Chris is examining what exactly has gone wrong with our vision and why. We know that in many cases nystagmus has a sensory cause, such as a problem with the optic nerve. However, we don't know precisely how and why such problems result in nystagmus. Chris would like to build up a list of potential research volunteers in south-west England and can be contacted at C.M.Harris@plymouth.ac.uk .

SOUTHAMPTON

The University of Southampton and Southampton General Hospital are home to one of the leading nystagmus research centres in the UK. One of their special areas of interest is the genetics and cellular pathophysiology of nystagmus.

In 2007 NN awarded a £10,000 grant to enable researchers in Southampton to continue their genetics research. This work builds on the discovery in 2006 of the first gene for nystagmus – FRMD7. Researchers Professor Andrew Lotery, Jay Self and their colleagues are now trying to discover how this gene is involved in causing nystagmus. They are also looking for other genes which may cause nystagmus.

Nystagmus is not always caused by a gene, but genetics could well explain many cases of nystagmus which are currently labelled as “idiopathic” (no known cause). In the longer term, understanding the genetics and pathophysiology of nystagmus also holds out the possibility of treatment.

The Southampton research team is particularly interested in families where several people have nystagmus, but anyone with nystagmus can take part. Usually all that you need to do is give a sample of saliva or a mouthbrush sample (small children). If you would like to consider helping with this research, or you have any questions about it, please contact Jay by email at J.E.Self@soton.ac.uk.

WORLDWIDE

We're UK based, so this website focuses on what's going on here, but we will bring you news of any major developments elsewhere.

The only other national nystagmus support group we know of is the American Nystagmus Network at http://www.nystagmus.org. We suggest you look there for information about what is happening in the USA

Any researchers, either in the UK or elsewhere, who would like to be listed here or want help in finding volunteers, should email: johnsanders@clara.co.uk

PREVIOUSLY PUBLISHED RESEARCH

In 1997, the Institute of Optometry in London completed the statistical analysis of its three year research study into the possibilities of treating congenital nystagmus with vision therapy. This research was funded by the Nystagmus Network. Click here for details.