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					              More than a just a sight condition
              Nsytagmus is a disorder that affects far more than the vision –
              as health writer Rahika Holmstrom discovers

              “Nystagmus doesn’t just affect the vision,” says Rebecca McLean.
              “The problems with visual function are not dissimilar from those
              caused by other conditions – but there is a whole other ‘cosmetic’
              aspect, which has a knock-on effect with work, education, and
              relationships. We need to recognise that.”

              The condition
              McLean works at Leicester University, which is one of the centres
              specialising in this condition – and which has recently entered into
              a formal research partnership with the UK Nystagmus Network.
              She and her colleagues have recently conducted the first study
              looking not just at the ‘hard’ implications, in terms of how it affects
              the vision, but also the issues which arise in a social context.
              Some of these apply to pretty well any little-known disabling
              condition: others are more specific (although not unique) to

              The term ‘nystagmus’ refers to involuntary movement of the eyes –
              usually from side to side, but sometimes up and down or even in a
              circular motion. There is no accurate figure for the number of
              people whose eyes do this, but the latest research (also from
              McLean and her colleagues) suggests that it is more common than
              was originally thought, at around 24 people in every 10,000.
              Sometimes this is linked to another eye disorders like cataract or
              glaucoma; many people with Down’s Syndrome and virtually all
              people with albinism have it too. It can also be acquired in later life
              (and sometimes as the result of stroke, multiple sclerosis or even a
              blow to the head). And around 10 per cent is ‘idiopathic’ – with no
              known cause, although there is also a recently-identified link to the
              FMRD7 gene.

              Effects on the vision
              Many people can register as partially sighted and a small number
              can register as blind; although most – especially if they’ve had the

Logo – RNIB supporting blind and partially sighted people
Registered charity number 226227
              condition since childhood – do go on being able to see some level
              fine detail at close range. People who develop nystagmus later in
              life often have problems with ‘oscillopsia’ – a constantly moving

              Some people – probably around half – have a ‘null point’, a
              position where the eye moves less and their vision improves.
              Finding it often requires turning the head to one side, and/or sitting
              to one side of a screen or blackboard. It’s also a tiring condition
              (because the eyes are constantly moving) and many people find
              their vision gets worse as the day goes on.

              The other effects
              Where nystagmus differs from a lot of other visual conditions is
              that it makes people look ‘different’. “The only other comparative
              condition is strabismus – a turn in the eye – where it’s been well-
              documented that the cosmetic effects, not just the visual ones, can
              affect people,” McLean points out. She and her colleagues talked
              in depth to a small, but representative, group of people with
              nystagmus about the ways in which the condition affects day to
              day life. Their responses demonstrated ‘an overarching and
              universal distress arising from nystagmus affecting every aspect of
              everyday life’. Apart from the effects on their sight, the participants
              talked about how they do not get out and about much – including
              socially; how they ‘stand out’ and/or ‘don’t fit in’ because of their
              appearance; and how they feel negative about themselves, their
              relationships with others and their future. McLean says frankly: “As
              a researcher working in this area for a long time I thought I
              appreciated how it affects daily life, but I realised that I didn’t – not
              the extent to which someone can be affected.”

              Social effects
              The effects of nystagmus, therefore, are a lot more ‘social’ than
              ‘medical’. “We’re still pretty ignorant about the whole cosmetic and
              visual area, and the medical profession hasn’t really looked at it
              before,” says John Sanders of the Nystagmus Network. “People
              say repeatedly if they had another visual condition people wouldn’t
              realise it. We can’t hide the fact we turn our heads or have this

              funny ‘thing’ that can jeopardise everything from job interviews to

              People with nystagmus need to be able to get the external
              environment accommodating their disability – or at least need to be
              able to operate more confidently within that environment. McLean
              feels that more people should be recommended the surgical
              procedures that move the muscles of the eye, so that the ‘null
              point’ is straight ahead and they hold their heads straight as a
              result. Sanders puts more emphasis on the need for people to
              tackle, head-on, the perceptions of others. “The advice we give
              people is that, say, if you’re going for a job interview you cannot
              conceal your condition – so think about how you’re going to
              manage the situation. Bring the subject up yourself at the end of
              the interview, asking them if there’s anything they want to ask you
              about it. If you bring it up you are immediately reducing the
              tension, and you’re explaining then how it won’t be an issue. You
              can turn it from being a negative to a positive. And that applies
              more generally: once the subject comes up people will want to talk
              about it, and give you the opportunity to explain why you don’t
              wear glasses or why the latest wonder treatment won’t work for
              you, and that it’s more common than you think.”

              They also both stress that people with nystagmus – in common
              with all relatively rare conditions – benefit hugely from talking to
              someone else who knows what they’re going through. “Half of the
              people we interviewed cried when we talked to them,” says
              McLean. “This was probably partly because for the first time they
              were talking to staff from a unit which specialises in nystagmus –
              we’ve got different areas of research, from genetics to treatment.
              Many of them had been told before ‘you’ve got nystagmus but
              there’s nothing that can be done about it so go away’.” “It’s not
              exceptional for people to cry when they’re phoning our helpline,”
              Sanders agrees. “They’ll often say things like ‘I’ve never spoken to
              someone else with nystagmus before’. It’s hugely important to talk
              to each other, and find out ways to deal with and manage our
              nystagmus. Networks like ours cannot cure the condition – and of
              course yes, we want to see the medical developments – but we
              can make a transformative difference in people’s lives

              McLean and her colleagues now intend to use the study as the
              basis for a ‘quality of life’ assessment tool for people with
              nystagmus. “This will quantitatively measure the impact of
              nystagmus on quality of life; and it’ll also provide a tool for
              assessing the efficacy of treatments,” she explains. Clearly it’s not
              before time.

              There is no ‘cure’ for nystagmus at the moment, but there are
              different drug and surgical treatments. The medications most
              commonly used are memantine and gabapentin. “Studies have
              shown that they are effective, but the exact mechanism is not
              clear,” explains Professor Irene Gottlob, head of the ophthalmology
              group in the University of Leicester’s department of cardiovascular
              sciences. (One theory is that they work on the neuro-transmitters
              which are important in the ‘gaze-holding mechanism’.) Other
              researchers are working on electrical devices which could help the

              The genetic link
              The FRMD7 gene has only quite recently been identified; and the
              exact nature, and extent, of this link is still being uncovered. One
              recent study concludes that the gene is implicated in ‘multiple
              aspects of neuronal development’.i It is now possible to test for
              ‘FRMD7-related infantile nystagmus’ in families where there is a
              recurrence of the condition and the inheritance pattern has been
              identified: men transmit the disease-causing mutation to all of their
              daughters and none of their sons, while women carriers have a 50
              per cent chance of transmitting the mutation in each pregnancy.


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