Nystagmus Research

Professor Irene Gottlob, Ophthalmology, Department of Neuroscience, Psychology & Behaviour, University of Leicester

Infantile nystagmus (IN) is a to and fro oscillation of the eyes which is estimated to have a prevalence of 2.4 per 1000. It has a direct impact upon visual function through constant motion of images on the retina as well as often being associated with retinal deficits. IN also has a profound effect on psychosocial aspects of life such as self-esteem and confidence.  Over a decade of collaborative research has resulted in the Leicester group being at the forefront of nystagmus research pioneering investigations from many different aspects the disease.

Genetic Causes of Infantile Nystagmus

In 2006 we discovered the first gene causing idiopathic IN (the FRMD7 gene) in collaboration with the University of Cambridge and the Sanger Institute (Tarpey et al., 2006). The causes of IN are currently unknown. The discovery of the gene has opened up avenues for identifying the mechanisms behind IN. Since then we have shown that FRMD7 expression is spatially and temporally regulated in the retina and gaze stabilization centres and that FRMD7 expression promotes neurite outgrowth during development of the ocular motor neural network (Betts-Henderson et al., 2010). Recent work in collaboration with the genetics department in the University of Leicester has shown that the FRMD7 protein interacts with Calcium Calmodulin Dependant Kinase (CASK) a protein which links the plasma membrane to the actin cytoskeleton in developing neurons (Watkins et al., 2013). As a result of this work the Leicester group has developed a genetic test for FRMD7 mutations which is now used clinically by the NHS. This can help patients in excluding other diseases earlier reducing the amount of diagnostic tests needed to diagnose the type of IN.

Improved Diagnosis of Infantile Nystagmus

We have used high-resolution optical coherence tomography (OCT), a technique which provides near microscopic resolution of retinal tissue in vivo, and eye movement recordings to improve the diagnosis of IN. Over recent years we have been at the forefront of using these technologies in IN where we have been able to use then to fully characterise the retinal and ocular motor abnormalities in diseases such as:

• FRMD7 associated IN (Thomas et al., 2008; Kumar et al., 2011)
• Achromaptosia (Thomas et al., 2012, 2013)
• Albinism (Mohammad et al., 2011)
• PAX6 mutations (Thomas et al., 2014)

Further work is ongoing on the characterisation of visual pathway abnormalities in these disease and other conditions associated with IN. These developments have changed the specificity and ease with which we can diagnose IN. We have also developed a grading scheme to quantify foveal hypoplasia clinically based on our findings (Thomas et al., 2011).
In 2011, the Leicester group was the first UK centre to acquire hand-held OCT, for research and clinical use in infants and young children. The group has since been used hand-held OCT to develop improved strategies of diagnosing in this age group (Lee et al., 2013).
This work is important for providing early diagnosis as well as improving the prognosis of the degree of visual deficit later in life to parents.
We are also using hand-held OCT to investigate normal retinal development and disrupted development of the retina caused by premature birth

Treatment of Infantile Nystagmus

Infantile nystagmus has long been considered an untreatable condition with limited options for pharmacological or surgical intervention. Treatment options are now emerging with the Leicester group pioneering many of these new treatments. The success of two medications, memantine and gabapentin, for treating acquired nystagmus led the Leicester group to complete the first randomised controlled trial into pharmacological treatment for IN (McLean et al., 2007). This work has continued in the form of a large crossover trial for the same two medications, which is nearing completion. We have also collaborated with MERZ Pharma to test a new medication, Neramexane. Other forms of treatment that have been evaluated by the group include comparing contact lens wear in IN, evaluating of the effects of the surgical procedure of “tenotomising” eye muscles for IN, and investigating the effect of biofeedback for improving nystagmus. These studies have informed clinicians about the value of different options and provide possibilities of treatment for patients with nystagmus that were not previously possible.

The Leicester group is currently developing ways to evaluate the impact of interventions on patient centred outcome measures such as quality of life and measures of functional vision such as reading performance.
The Leicester Ophthalmology Group has now become the foremost centre for the diagnosis and treatment of nystagmus in the UK and sees over 600 patients with nystagmus per year. The majority of patients are referred from outside the service area, including patients being referred to internationally from Europe and even further afield.

Links

Amblyopia Research

Ophthalmology Research at Leicester

About Professor Irene Gottlob

 

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Department of Neuroscience, Psychology and Behaviour
University of Leicester
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T: +44 (0)116 252 2922
E: npbenquiries@le.ac.uk

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