Feb 032012

Whilst researching nystagmus, I’ve found a few differences in the diagnosis and treatment options in the UK and USA.  I got in touch with Jack’s eye Doctor, and a couple of specialists listed on the Nystagmus Network site to find out more.  


In the USA, I’ve learned in several cases an MRI was offered as a first test rather than the VEP/ERG tests Jack had and I wondered why he was not offered one.  I’ve been advised that the type of test is selected based on the initial diagnosis.  The VEP/ERG tests are less invasive (and often don’t require an anaesthetic (to put you to sleep)), so where possible these are used first to find out whether an MRI is necessary.

Nystagmus Gene Testing

In the USA, some parents in a similar situation to us (son roughly the same age as Jack with congenital idiopathic nystagmus, no family history of the condition) have been offered genetics testing to check for genes that may be causing the nystagmus.  It will also help determine the odds that they and their son may pass nystagmus on to future children.

I found out such tests are available in the UK (including checking for a mutated form of the frmd7 gene but this is usually only offered where there is already family history of nystagmus as it’s rare to carry it otherwise – see research posted on Jen and Ashey Bacon’s NystagmusBlog website).

Occupational Therapy

I’ve discovered from some USA blogs and parents that they have been offered regular Occupational Therapy for their children soon after they were diagnosed with nystagmus to check progress and get exercises to help improve their development.  As far as I’m aware this is not routinely offered on our NHS, but fortunately we can learn from our friends in the USA.  Thanks to Liam’s parents for sharing experiences from their first two therapy sessions – Liam’s first day of therapy and At home vision therapy kit.  We look forward to reading more and trying out the exercises with Jack.


We’re keen to learn more about nystagmus diagnosis and treatment in the UK, USA and other countries.  We welcome hearing any experiences or information you have about these topics.

  9 Responses to “Nystagmus diagnosis and treatment in the UK and USA”

  1. Hi there

    Our daughter aged 11, was tested for the FRMD7 gene about 18 months ago although there is no history of nystagmus in our family. We saw a geneticist at West Middx hospital after our eye consultant referred us. No mutation was found and we also had further DNA tests to rule out albinism. Her current diagnosis is congenital idiopathic periodic alternating nystgamus. We also had occupational therapy on the NHS when she was small and we are fighting now for more OT sessions. Do you know about Rebecca Mclean’s team at Leicester University Hospital under Professor Gottlob? Professor Gottlob is a Nystagmus expert and we went up tyo Leicester for a very well organised full day of eye tests and they were wonderful.
    Hope this is of interest.
    Kind regards
    Frances Lilley

    • Hi Frances,

      Thanks for sharing this. It’s really good news to hear your daughter has had access to the genetic tests – it must be reassuring for you all. It’s also great she received occupational therapy, and I hope that you are able to secure some more in the future.

      Yes, I’ve heard of Rebecca McLean, and I saw her presentation at the last Nystagmus Network Open day. The Leicester team have recently purchased a handheld OCT (Ocular Coherence Tornography) scanner using funds raised by Nystagmus Network members to help study the eyes of young children under six. I believe that anyone with nystagmus is able to request a referral appointment there to make use of the expertise of the team and specialist equipment. This is something we are keen to do for Jack in future.

      Thanks again,

  2. I obviously don’t know anything about nystagmus apart from what I am learning on your blog, but I just wanted to say that I am blown away by all the research and networking you guys are doing to find out all that you can do to help Jack and make sure his eyes get as much stimulation as possible. he is one lucky little boy to have such parents, as are the other children whose parents have been sharing their knowledge with you. Lots of love to you all x

  3. Hai..nice to read ur blog..my baby had diagnose congenital idiopatic nystagmus since he was 5 month old..no one of our family has history about this condition, but there is so little information and maybe offering treatment from our opthalmologist here in indonesia,ur blog is very help us to understand about nystagmus. I would like to ask,it is necessary need to doing surgery (tenatomy) for our kids, to make his vision better?what do you think.

    • Hi Ully,

      Thanks for your feedback. Jack’s Dr advised there are surgery options available to help improve nystagmus and vision in certain patients (e.g. to centre the null point), but they won’t be necessary/helpful for everyone. He said we’ll not know whether Jack will benefit from such surgery until he is at least five as his eyes will change a lot between now and then.

      The UK Nystagmus Network have some excellent information on the different surgery types available including tenotomy on their “Published Research” page (see the NICE guidance on tenotomy surgery for nystagmus and Surgical management of nystagmus sections).

      I’ve found a useful video by Dr Hertle who is a leading eye surgeon for nystagmus in the USA about surgical treatments on the new American Nystagmus Network website. The other videos including the testing and patient outcomes are also very good.

      There is a lot of feedback on surgery results available online, much of it positive, which will prove useful if our children do need surgery in future. One chain from the Nystagmus Network Forum is available here.

      Best wishes,

  4. Hey Claire,

    Our doctors wanted an MRI for Makayla, ASAP, to rule our any other more serious conditions that may be causing her Nystagmus, like Epilepsy or Cerebral Palsy, especially since she was premature and very underweight at birth. With the MRI showing all clear, most of the doctors we spoke to seems content ruling her Nystagmus as “congenital.” However, we have since changed Ophthalmologists and our current one believes there is no such thing as “Congenital Nystagmus” (which I really appreciate) and she is determined to find a cause. We are currently waiting for her ERG to be scheduled. Her current Ophthalmologist offered genetic testing, but said that it’s very unreliable…

    Have you been in contact with Dr. Hertle’s office? I’ve spoke with our doctors regarding the surgeries, but at this point she doesn’t think it’s a good option for Makayla. I’m not sure going to Ohio is in our budget right now, but I’d be really curious to know what he would think of Makayla’s Nystagmus.

    Thank you for keeping this blog up and running. I’m so impressed with all the information you have to share!

    • Hi Ashleigh,

      It’s really good to hear from you, and good to hear your experiences for Makayla. I hope your ERG comes through soon and you are able to find out more. I’ve not been in touch with Dr Hertle’s office. Like your Dr’s, ours has advised we’ll not know whether surgery will be of any benefit until Jack is older. Yes, Ohio is quite a trek from the West Coast! It’s probably worth checking with the the American Nystagmus Nework whether there are other Nystagmus specialists/research centres a bit closer to home. Thanks for sharing your story via your blog too, good to see your latest post.

      Take care,
      Claire x

  5. Hello,
    I’m John, I’m 16 years old and I’m from Belgium,
    I have nystagmus since my birth, and it is really difficult to make eye contact with people,
    are there any treatments of medicins who can help and reduce the eyemovements, it would be very nice to hear there are solutions for my nystagmus because it is really difficult…

    I’m sorry for my bad English but I’m learning on it….


    • Hi John, thanks for getting in touch.

      I still have a lot to learn in this area. I know drug trials are being carried out at Leicester in the UK by Professor Gotlobb’s team. There is some information about this and other research and treatment on the Nystagmus Network website (http://www.nystagmusnet.org/cms/index.php/research)

      I’ve also found the following information on Wikipedia in the treatment section (http://en.wikipedia.org/wiki/Nystagmus) which seems promising.

      “Congenital nystagmus has traditionally been viewed as non-treatable, but medications have been discovered in recent years that show promise in some patients. In 1980, researchers discovered that a drug called baclofen could effectively stop periodic alternating nystagmus. Subsequently, gabapentin, an anticonvulsant, was found to cause improvement in about half the patients who received it to relieve symptoms of nystagmus. Other drugs found to be effective against nystagmus in some patients include memantine,[23] levetiracetam, 3,4-diaminopyridine, 4-aminopyridine, and acetazolamide.[24] Several therapeutic approaches, such as contact lenses,[25] drugs, surgery, and low vision rehabilitation have also been proposed.

      Clinical trials of a surgery to treat nystagmus (known as tenotomy) concluded in 2001. Tenotomy is being performed regularly at the University of Pittsburgh Children’s Hospital and by a handful of surgeons around the world. The surgery developed by Louis F. Dell’Osso Ph.D. aims to reduce the eye shaking (oscillations), which in turn tends to improve visual acuity.[medical citation needed]

      Acupuncture has also been shown to have beneficial effects on the symptoms of nystagmus. These benefits have been seen in treatments where acupuncture points of the neck were used, specifically points on the sternocleidomastoid muscle.[26][27] Benefits of acupuncture for treatment of nystagmus include a reduction in frequency and decreased slow phase velocities which led to an increase in foveation duration periods both during and after treatment.[27] Explanations as to how acupuncture may affect congenital nystagmus are lacking due to both a lack of knowledge of the mechanism of action of acupuncture and of the origins of the congenital nystagmus itself.”

      I recommend speaking to a specialist about these different options. Best of luck x.


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