The Nystagmus Network shares all nystagmus research news on our blog, in our Focus newsletter and on our social media. Find some of our longer reads here.
The Nystagmus Care Pathway is adopted
The Nystagmus Network welcomed the publication of new guidance on the management of nystagmus in children officially adopted by the Royal College of Ophthalmologists in April 2023.
The purpose of the Clinical Practice Points, now available on the Royal College website, is to provide a single point of reference for busy clinicians when managing patients with this complex eye condition.
The Practice Points can be found online here
The Nystagmus Network contributed to the development of the Practice Points through its membership of NUKE, the nystagmus UK eye research group. Members of NUKE worked together to develop a Nystagmus Care Pathway which sets guidelines on diagnosis and care for patients with nystagmus – the first time such guidelines have been created for this condition.
Vivien Jones, founder and Honorary President of the Nystagmus Network, said “The adoption of these guidelines means that clinicians can now refer to them when treating patients with nystagmus – something that we hope will lead to continuing improvements in developing standardisation of medical diagnosis and care.”
Clinician Jay Self, University of Southampton, an author of the Practice Points and founding member of NUKE said “Managing children with nystagmus can be complex and nuanced. By sharing best practice, in an easy to follow guide, we hope to improve all aspects of care for children and their families.”
Getting told your baby has nystagmus is an anxious time. It’s even harder if all the medical information seems a bit bewildering, if testing is inconsistent and depends on where you live and you don’t know where to turn for support.
That’s why NUKE (the Nystagmus UK Eye research group) has been working to put together the ‘Nystagmus Care Pathway’, a set of guidelines for hospital eye clinic staff to follow, covering everything from taking the family history through diagnostic testing to long term support.
The value of immediate, clear information about nystagmus for families and signposting to sources of support cannot be emphasised enough. Generally, their questions fall into three categories: What is the cause? How will it impact the sight and general wellbeing? What is the solution?
Pinpointing the cause has many benefits for patients. An accurate diagnosis empowers families to talk about nystagmus and advocate for themselves and/or their children. If the cause is genetic the family can understand why nystagmus occurred and know the probability of other children being born with the condition.
Parents especially want to understand how nystagmus will affect developmental milestones, education, social interaction and, ultimately, career choice. The first 17 years are of more immediate significance than whether or not the child will eventually be able to drive.
Following the initial shock of diagnosis with a previously unheard of condition, most parents gradually accept that treatments are limited and there is no cure. At this point they can begin to understand the optical, clinical and surgical options available, what will help, what will not help and why.
Where clinicians lack the time or experience to answer some of these questions, it is important to steer families away from Google and signpost them instead to national and regional organisations such as the Nystagmus Network, local sight loss organisations, the ECLO or QTVI.
All this guidance is now enshrined into the Nystagmus Clinical Practice Points to ensure that diagnosis, treatment, advice and, crucially, signposting to support services for families, are standardised on a national level.
Current and emerging treatments for albinism
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and eyes. A wide range of ophthalmic manifestations arise from albinism, including reduction of visual acuity, nystagmus, strabismus, iris translucency, foveal hypoplasia, fundus hypopigmentation, and abnormal decussation of retinal ganglion cell axons at the optic chiasm. Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin; however, novel therapies that aim to directly address the molecular errors of albinism, such as l-dihydroxyphenylalanine and nitisinone, are being developed and have entered human trials though with limited success. Experimental gene-based strategies for editing the genetic errors in albinism have also met early success in animal models. The emergence of these new therapeutic modalities represents a new era in the management of albinism. We focus on the known genetic subtypes, clinical assessment, and existing and emerging therapeutic options for the nonsyndromic forms of albinism.
Authors: Author links open overlay panelSiyin Liu MRes, Helen J. Kuht BMedSci, Emily Haejoon Moon MBChB, Gail D. E. Maconachie PhD, Mervyn G. Thomas PhD
Source: Science Direct online
Congratulations, Nikita
On World Sight Day 2020, the Nystagmus Network was delighted to celebrate the achievement of Nikita Thomas who was named an Eye Health Hero by the IAPB (the International Agency for the Prevention of Blindness).
Nikita, who works in nystagmus research at the University of Cardiff, was nominated by the Nystagmus Network and has achieved her award in the ‘Innovators’ category.
Innovators embrace new ideas and create new possibilities and outcomes. They challenge the status quo and push the boundaries of knowledge to develop new approaches, systems or appropriate technologies in eye health.
Cited for her innovative developmental work in the field of perimetry, Nikita says: “I have a deep-rooted passion for creating solutions that promote equality of access to standard optometric and ophthalmic clinical practices across different patient groups. This has involved transforming the commonly used method of visual field testing into a method that allows for accurate examination of the visual field in patients with voluntary and involuntary unstable fixation, such as nystagmus. I love that my role offers the freedom and flexibility to fully explore my own concepts and ideas, as well as the potential to make a worldwide impact on established clinical procedures.”
The Nystagmus Network added: “Always engaging, professional and knowledgeable, Nikita Thomas is a very popular research delegate at the annual Nystagmus Network Open Day and a poised and eloquent presenter when delivering presentations to members of our patient group.”
Her academic supervisors at The School of Optometry and vision Sciences at Cardiff University said: “Nikita’s work promises to have a significant impact on both the delivery of clinical eyecare and our understanding of the development of the human visual system.”
Congratulations, Nikita!
Read Nikita’s full IAPB citation here
How well will my child see?
Researchers from the University of Leicester have identified a new way of predicting the future vision of children with infantile nystagmus. The research, published in the journal Ophthalmology has developed a grading system for retinal development in infants and young children with the condition, providing an important tool for ophthalmologists to determine their future vision.
Researchers from the University of Leicester have identified a new way of predicting the future vision of children with infantile nystagmus. The research, published in the journal Ophthalmology has developed a grading system for retinal development in infants and young children with the condition, providing an important tool for ophthalmologists to determine their future vision.
This new research, funded by Fight for Sight and the Nystagmus Network, highlights for the first time that we can use this existing grading system to predict future vision in children and infants with nystagmus. Importantly, it is more reliable than the current tests used.
Infantile nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement, acquired in infancy or later in life, that may result in reduced or limited vision. It affects approximately one in 500 people. Due to the involuntary movement of the eye, it has also been called “wobbly eyes”, and often comes with a negative social stigma.
Nystagmus can be challenging to diagnose in children and often the level of sight loss a newly diagnosed child will experience is unclear, leading to significant anxiety for parents who fear their child will develop severe visual impairment.
With the advent of hand-held optical coherence tomography (OCT) – a non-invasive imaging test that uses light waves to take cross-sectional images of the retina – healthcare professionals are now able to obtain detailed information about the status of retinal development in young children and infants. These scans can be obtained in a few minutes and can be performed non-invasively in children.
In 2011, lead researcher, Dr Mervyn Thomas, had developed a grading system based on optical coherence tomography (OCT) for arrested retinal development and found that this system is able accurately to predict the prognosis of vision in children and adults with arrested retinal development.
Dr Mervyn Thomas, said “This study required a lot of patience and cooperation from our nystagmus patients and families. The result is now we have a validated method of predicting prognosis in children and infants with infantile nystagmus. This will allow clinicians to plan better for patients whose vision is likely to be worst affected by nystagmus, while also helping to reassure and enable patients and families to optimise the development and educational attainment of the child during this crucial, formative stage.”
Fight for Sight’s Head of Research and Policy, Dr Rubina Ahmed, said “This grading system is a positive step towards better care for children with infantile nystagmus and will help to allay concerns of parents with unanswered questions related to visual development and prognosis for their children and may in future lead to better care plans for individuals.”
Sue Ricketts, Executive Information and Development Manager at Nystagmus Network, said “This development highlights the importance of research investment in nystagmus diagnostics and also answers the question most parents of newly diagnosed babies have: How well will my child be able to see?”
This research was jointly funded by Fight for Sight and Nystagmus Network via the Small Grant Award, awarded to Dr Mervyn Thomas and Professor Irene Gottlob.