“I have a dream” was how ophthalmologist Jay Self explained his vision of the future at the Nystagmus Network UK’s first clinical training day on January 30. Mr Self believes that within three or four years some babies will be able to have a genetic test to help quickly establish if any conditions are associated with their nystagmus. The benefits could include tailored medical care, less likelihood of invasive tests, less diagnostic anxiety for parents and more accurate genetic counselling.
Other speakers suggested that some hospitals could already do more to establish the underlying causes of nystagmus. Traditional electrodiagnostic tests (such as ERGs and VEPs) should be carried out on most infants with nystagmus. Among other benefits, accurate diagnosis can help predict how nystagmus will affect a child – valuable information which can then be shared with teachers.
Leicester Royal Infirmary ophthalmologist Helena Lee explained the benefits of hand-held OCT (Optical Coherence Tomography) technology when investigating nystagmus in infants. Although not yet widely available elsewhere, the LRI’s hand-held OCT scanner is already leading to new discoveries about nystagmus and the development of the infant eye.
Mr Self said he offers most children with nystagmus a Certificate of Visual Impairment because it opens doors to other sources of help – especially from education services. Several QTVIs (qualified teachers of the visually impaired) among the 60 plus delegates confirmed that in their areas a child without a CVI was highly unlikely to get access to their service.
Dr Lee and colleague Rebecca McLean gave updates on nystagmus surgery (for the null point) and experimental drug therapies. Although drug trials suggest little benefit, Ms McLean highlighted the shortcomings of visual acuity as a measure for the effectiveness of any nystagmus treatment. Since nystagmus affects far more than distance vision, treatment outcomes should also look at factors such as time needed to see, scanning ability, possible improvements in depth perception or expanding the null point.
Cardiff University researcher Maggie Woodhouse OBE explained the challenge the null point presents when fitting glasses to people with nystagmus. Although glasses do not fix nystagmus, many people with the condition need them because of long or short-sightedness. However, a head turn or tilt due to a null point often means the patient is not looking through the centre of the lens and may even find their vision blocked by the spectacle frame.
In a separate presentation Ms McLean showed that nystagmus has far reaching social and emotional consequences too. Her research (see http://bjo.bmj.com/content/early/2012/04/18/bjophthalmol-2011-301183) found that people with nystagmus typically feel they stand out, have low self-confidence, feel pessimistic about their prospects and limited by not being to drive or travel independently. She told delegates that 10 of the 21 participants in her research cried while being interviewed.
QTVIs and rehabilitation workers present confirmed that the mental and emotional well-being of children and adults who have nystagmus is an issue. One QTVI noted that mental health is a particular concern for teenagers and an almost completely neglected area.
A theme running throughout the day was how vital it is for families to receive information about the causes of nystagmus, its effects on daily life and the solutions available – not just medical solutions (which are anyway still very limited). In NN’s experience all parents have three basic questions: Why does my child have nystagmus? How will it affect my child? What can I/you/anyone else do to limit its impact? In most cases, getting answers to these questions brings considerable relief and benefit to parents.