Mike wears his Nystagmus Network T short and smiles for the camera

Looking good, Mike!

Can you believe that it’s THREE MONTHS TODAY since Mike set off on his crazy ‘wiggly walk’ the entire length of New Zealand to raise money for nystagmus research?

And he’s still walking!

In case you haven’t been following his progress that closely, he’s currently in the Auckland area and it’s all got a bit wet.

The above picture shows Mike in his pristine Nystagmus Network T shirt preparing to set off on his Walk for Wiggly Eyes.

The picture below, well, sorry, we have no words …

Please sponsor Mike and show him your love and support. He’s doing this for all of us. Thank you.

Research into decision making for genetic testing

A team at Cardiff University is conducting a study to identify the factors that influence the decisions made by genetic counselling patients about proceeding with genetic tests. They are looking to recruit patients who are undergoing genetic testing or pre-natal testing to take part in the study by recording their thoughts and feelings as they go through the decision making process. 

FIND OUT MORE HERE.

Ifigeneia stands in front of a whiteboard in a lecture theatre.

Parents of adolescents with nystagmus: research participation opportunity

Ifigeneia Manitsa BEd, MSc, AFHEA (pictured) is a Psychology Researcher at Kingston University London. Her research is about the social and academic inclusion of adolescents with and without visual impairments. 

Ifigeneia has a Degree in Primary Education and a Masters in Special Education. Visual impairment has been her field of expertise for the past 7 years.

Her latest study is on the social relationships that sighted and visually impaired adolescents, aged 12-14 years, who attend mainstream schools or mainstream schools with special resourced provision, develop with their teachers and peers and the impact of these relationships on their school grades and classroom participation. An outline of the project is below.

Sighted and visually impaired adolescents aged 12-14 years will be asked to complete 3 questionnaires:

  • a demographic questionnaire
  • a questionnaire on the social relationship they have developed with their favourite teacher
  • a questionnaire on the social relationship they have developed with their closest friend in school

These questionnaires will take approximately 30-45 minutes. The main researcher is going to ask the questions and adolescents will answer them. The teachers the adolescents nominate as their favourite ones will be asked to complete a questionnaire on these students’ academic inclusion (test grades and classroom participation). This will take approximately 15 minutes to complete and they can do it in their own time. Additionally, we would like to have access to the academic grades that students have received in English, Maths and Science in their last report. Their teachers can share these with us and we will, of course, ask for parents’ and students’ permission.

The adolescents who participate in this study may have a visual impairment, but no learning or cognitive disabilities.

The questionnaires can be completed by phone, email, Skype or post.

If you would like to know more about the study or Ifigeneia’s work, please contact us.

If you would be interested in taking part in the study, please complete the form below. Thank you.

Diagrammatic representation of a typical circadian rythm.

Circadian Therapeutics Sleep Health Survey

Circadian Therapeutics are seeking vision-impaired individuals between 18 – 70 years to participate in a research project exploring experiences of sleep and daily rhythm disruption.

In partnership with the Blind Veterans UK, Circadian Therapeutics is running a survey to identify sleep and circadian disruption experienced by vision impaired individuals in order to provide informed feedback to the Visually Impaired UK community about living with sleep and circadian disruption. The research team are now opening up the survey to members of the nystagmus community.

The aim and purpose of the survey:

Sleep and biological daily rhythms (circadian rhythms) are essential to maintaining the healthy balance and functioning of the mind and body. Our master internal circadian clock coordinates our body’s daily physiological and behavioural cycles to the Earth’s solar day – including daytime alertness and sleep timing, to synchronization of changes in hormone secretion, to fluctuations in mood and cognitive ability.

Sleep and circadian rhythm disruption (SCRD) is widely experienced in our communities, with the scope of the problem often underreported. Common suffers range from teenagers, new mothers and shift workers, to individuals with depression and the severely Vision Impaired, and is an underlying feature in many of the most challenging diseases of our time, including cardiovascular disease, cancer and neuropsychiatric diseases.

The Sleep and Circadian Health Survey

The aim of this survey is to identify sleep and circadian disruption experienced by Vision Impaired individuals in order to provide informed feedback to the Visually Impaired UK community about living with sleep and circadian disruption.

Taking Part

Participants will be asked to complete a questionnaire (online or by telephone) to understand more about vision status, health, and sleep. The questionnaire will also assess eligibility to participate in Part 2 of the research study: including 4-weeks of at-home sleep and daily rhythm monitoring, and possibly followed by a 2-night stay at the Blind Veterans UK Centre in Brighton to measure a series of physiological and biological markers. 

If you would like to complete the survey, or have any questions please contact Circadian Therapeutics:

Via email: [email protected]

By phone: 01865 841 532

Find out more about the study by clicking this link to the Circadian Therapeutics website.

Research on nystagmus and glaucoma

As previously reported here, the Research Unit for Nystagmus at Cardiff University has been looking for people with nystagmus to take part in a survey that aimed to further their understanding of the number of people with nystagmus who have also been diagnosed with glaucoma.

Nikita Thomas, of Cardiff’s School of Optometry and Vision Sciences says: “Thank you for sharing. We’ve had a fantastic response.”

The survey is now closed. Thank you to everyone who contributed to the study. We will report on progress as soon as we can.

Volunteers needed

It’s thought that some types of nystagmus are caused by a genetic spelling mistake. Although nystagmus is not classified officially as a rare disease, we can all take part in genetic research to help researchers find out more.

The NIHR BioResource – Rare Diseases has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments; thus improving care for those with rare diseases and their families.

There are approximately 7,000 inherited rare diseases and the genetic basis of about half of these have been discovered, the challenge now is to identify the remaining causes of rare diseases.

  • 1 in 17 people will develop a rare disease at some point in their lives
  • 30 million people across Europe have a rare disease
  • 75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday
  • A rare disease affects the individual, parents, siblings and friends; many people’s lives are affected by rare disease

The NIHR BioResource – Rare Diseases recruits affected participants and their relatives across several different disease areas including Infection and Immunity, Neuroscience, Rare Diseases (including Rare Cancers) and Cardiovascular Disease.

The whole genomes of a large number of participants have been studied and an extensive range of phenotype information has been captured.

Watch the short film below featuring Professor Willem Ouwehand and Dr Ernest Turro, both researchers at the NIHR BioResource for Rare Diseases as they talk about the importance of volunteers to help them understand more about the genetic causes of rare disease.

Read more about the research project here

Watch the video here

Improving the infantile nystagmus test

Delegates at 100% Optical learned about progress on refining the way an eye movement disorder is identified in babies

Professor Jon Erichsen from the University of Cardiff gave a presentation on infantile nystagmus to eye care professionals at the recent 100% Optical event (ExCeL London, 25–27 January).  

Professor Erichsen highlighted that in the condition there are several “known unknowns.”

“One thing we don’t understand is why we can have all sorts of conditions where the nystagmus is the same even though the disease is different,” he elaborated.

He added that while treatments for nystagmus attempt to dampen oscillation in order to improve vision, it is still uncertain whether abnormal eye movements affect visual acuity.

Patients with infantile nystagmus see the world as stable despite their involuntary eye movements, Professor Erichsen shared.

Experiments aimed at assessing a patient’s visual acuity in the absence of involuntary eye movements came to a surprising conclusion.

“Acuity in the absence of visual motion is unchanged,” Professor Erichsen highlighted.

To illustrate this point, he shared the case of a patient with infantile nystagmus who received surgery that dampened her eye movements.

“By reducing eye movements, what we may be doing is increasing the contrast sensitivity function which is why patients are reporting that their vision is better” University of Cardiff’s Professor Jonathan Erichsen 

The patient reported being able to see better, although objective measures of her visual acuity had not changed.

Professor Erichsen shared that contrast sensitivity rather than visual acuity may be a better way of assessing treatments in infantile nystagmus.

“By reducing eye movements, what we may be doing is increasing the contrast sensitivity function which is why patients are reporting that their vision is better without the movements,” Professor Erichsen observed.

Read the full report on Professor Erichsen’s presentation in Optometry Today, here.

Alison Leary

Alison joins the Nystagmus Network

We are delighted to announce that Professor Alison Leary MBE has joined the Nystagmus Network as a trustee.

After spending 10 years in science Prof. Leary undertook an RN diploma at The Nightingale School at St Thomas Hospital (now Kings College London). She attained a Masters in Biomedical Science (Haematology) and worked in acute Haematology services. Prof. Leary obtained a PhD in Clinical Medicine from the University of London (Royal Free & University College School of Medicine).

In recent years she has undertaken various projects around the modelling of complex systems in both the public and private sector and has a particular interest in the work of specialist practice and its value. She undertakes research in this area. She also provides a service as an expert witness.

Prof. Leary writes regularly for the general, trade and academic press. She is the clinical lead for the matchday medical service at Millwall FC. In 2015 she was made a Fellow of the Royal College of Nursing and in 2016 a Fellow of the Queen Nursing Institute and a Winston Churchill Fellow for which she examined high reliability organisations looking at safety. She has worked in league football for over 20 years and in 2019 received an MBE for modelling spectator safety.

People chatting.

Nystagmus researchers need your help

Common misconceptions about nystagmus

A team of nystagmus researchers in the UK have recently shown that there is significant variation in the way people with nystagmus are supported and given information, from diagnosis to treatments and beyond.

They are now interested in studying public perceptions of nystagmus and are developing a similar questionnaire for both people with nystagmus (and their parents/carers) but also the general public.

The study will take the form of an online questionnaire and seek to understand both the public’s assumptions and understanding of what nystagmus is, alongside what people with nystagmus feel is commonly misunderstood or misinterpreted.

Do you have any suggestions for things which the research teams could ask to help highlight common misconceptions or assumptions about nystagmus? If so, please complete the form below. Thank you.

Thank you to everyone for sharing your thoughts on common misconceptions about nystagmus. This study is now closed. We will report on progress as soon as we can.

Marie Turnbull

Join us at the Manchester meet up

The next meeting of our north west regional Nystagmus Network support group is on Saturday, 25 April from 1 to 3pm in central Manchester

Adults with nystagmus, parents of children with nystagmus and anyone supporting someone with nystagmus are all welcome to come along.

The meeting is hosted by Nystagmus Network trustee, Marie Turnbull (pictured).

The focus of the meeting this time will be nystagmus research. There will be a short, pre-recorded film by Associate Professor and Consultant Ophthalmologist, Jay Self from Southampton University Hospital. 

Jay will answer any research questions group members have about nystagmus, cure, treatment, testing, etc. You can email your questions in advance.

If you would like to join this regional group, come along to meetings and take part in the Q+A with Jay, please contact us today.

Thank you