Professor Peng Tee Khaw, a who sits on the Aniridia Network UK medical panel, was awarded a knighthood in the Queen’s 2013 Birthday Honours. The consultant ophthalmic surgeon received the honour  for services to ophthalmology.

At the Aniridia Network UK (ANUK) Conference 2013 we announced that ten top experts in the UK have agreed to help us understand the: causes, symptoms, assessment, prognosis and treatment of aniridia. Professor Khaw is among them. Members can ask them questions via our enquiries service (enquiries@aniriida.org.uk).

Among his other roles, Professor Khaw is currently Director of the Biomedical Research Centre (BMRC) funded by National Institute for Health Research (NIHR) at Moorfields Eye Hospital/University College London Institute of Ophthalmology. He is professor of ocular healing and glaucoma and has a long track record of developing new treatments from laboratory through to international clinical trials.

Colleague and ANUK patron Veronica van Heyningen tweeted that she was “delighted to hear of the knighthood for the expert on glaucoma & new treatments”.

Congratulations also came from our officials and members. Jenny said, “I know for definite that he is solely responsible for the fact that I still have some remaining useful vision – he has done numerous surgeries on both my eyes since I was 12. So happy all his hard work and dedication has been recognised!”

The charity Nystagmus Network are funding a £15,000 project to investigate the slow to see phenomenon in nystagmus.

Professor Harris is looking for volunteers to take part in this project. It simply involves visiting the University of Plymouth and looking at a screen and saying which way a letter C is pointing. Anyone with early onset nystagmus interested in taking part in this research should contact info@nystagmusnet.org

Nystagmus Network chairman Richard Wilson said: “Slow response times are one of those little understood quirks of nystagmus, but they have such a big impact on our daily lives. We hope this research will help clinicians to measure the slow to see phenomenon more effectively and increase our knowledge of what’s going on in the vision of people with nystagmus.”

In a survey by Aniridia Foundation International of 83 people with aniridia, over 80% of people also had nystagmus.

I am so glad I went to this year’s Aniridia Network UK (ANUK) annual conference. I had almost decided to give it a miss but it turned out to be unmissable! A truly positive experience which gave me hope; a real feel good experience!

There were so many highlights for me. I was thrilled to hear the keynote speech from our new Patron Veronica van Heyningen CBE, even if she did get a little bit too technical at the end for me!

Patron Veronica

I think it is wonderful that Veronica has come on board; with her in-depth knowledge and her notoriety she can only bring great things to advance ANUK. In fact, I was really excited to hear that she has already started to appoint a panel of experts to assist the charity. I am looking forward to her confirming who will be the specialist in WAGR/11p Deletion Syndrome.

As my 4-year-old daughter has communication problems, it is difficult for me to know how her aniridia affects her in daily life. The conference was yet again a great opportunity for me to meet other people with aniridia to learn about how the condition affects them. It was also a valuable opportunity to meet some other lovely WAGR families; there are so few of us that I am glad that we are able to ‘piggyback’ the event each year!

Susan, Caryl, Mari, Trystan, Jenny and guide dog Jayne

My lasting impression from the conference is the positive vibe that surrounded the day. ANUK has evolved a great deal, even in the short time that I have been a member. I believe this has been driven by the obvious passion and vision of the trustees for the organisation. I found this inspiring and hope to organise a social meet-up in the Midlands during the year.

At the conference, we saw first-hand that people with aniridia can have a fulfilling life, career, relationships etc and that new and exciting treatments are already being researched and trialled to establish a long-term solution to the corneal damage caused by aniridia.

Medical Adviser Melanie presenting

When listening to the presentation by Melanie Hingorani, ANUK’s newly appointed Medical Advisor about therapy and surgery, it struck me how many of the aniridia related complications my young daughter already has; ones that generally do not appear in childhood. Instead of feeling scared, I feel the conference brought me hope and whatever happens, through ANUK I am developing a network of friends and contacts who will be there to advise and support us.

What did you think of Conference 2013? Tell us in the comments below or send us an article of your own to publish.

More photos from the day

For an information sheet for parents, an expression of interest form and a flyer that will provide more information visit the study web page.

Do the eyes of anyone with aniridia not move fully to the side when looking side ways?

This picture shows what she means.

Symptoms of abducens palsy

The symptoms to look for are

1. When looking straight forward one eye tends to turn in toward the nose. This causes mild double vision.
2. Normal appearance when the affected eye has to look toward the nose and the healthy eye is looking outwards (away from the nose);
3. When looking in the other direction and the affected eye has to look outwards (away from the nose) it gets stuck in the middle while the other healthy eye turns in towards the nose. This causes severe double vision.

Note this is different to nystagmus where the eyes move involuntarily and strabismus where the eyes cannot align to look in the same direction.

Dr Han says “We are trying to study abducens palsy – that’s a defect in the nerve that controls outward gaze of the eyes. This can happen with just one eye or with both eyes.”

“We’ve observed inability of one or both eyes to gaze all the way to the outside side of the eye in some people with WAGR syndrome, but not in people with isolated aniridia thus far. But I think this might because we haven’t seen that many people with isolated aniridia.”

If you or your child has aniridia but not WAGR/11p deletion syndrome as well, and you think there might be a problems gazing sideways, please contact Dr Han by email hanjo@mail.nih.gov 

Note: Katie referred to the pituitary gland when she meant the pineal gland.

Jenny has previously told her story about trying to obtain melatonin in the UK.

As an update Jenny says “It’s hard to find the right dosage balance – I know this from personal experience and from parents of children with WAGR/11p deletion syndrom (they didn’t find it effective at first, until they tweaked the dosage, and some had to lower it).”

“I find 3mg isn’t enough and 5mg is too much. That’s with melatonin obtained from America. So the neurologist I saw suggested taking 2x 2mg. That’s why I take circardine mainly because it does come in 2mg doses in is slow release.”

An article in the Mirror last autumn featured Terri, one of our members. It was published on the day Prime Minister David Cameron told his party conference and the nation he planned to make more ­cuts. Terri told how for her benefits are essential and  should not be reduced.

Terri is 50 years old and registered blind due to aniridia and glaucoma. She lives with her three daughters ranging from 20 to 16 years old in Lancashire. In the article she says:

“This Government seems to think the longer you’re blind the less help and support you need. It isn’t true. There is no more money to take from us – nothing left to give.”

I was born severely sight-impaired but in my 30s, when I had children, it deteriorated even more.

To me, your Government does not understand disability. I rely on my disability living ­allowance of £105.90 a week to get by, but more than half of that goes on paid ­assistance, where a carer comes round for 12 hours every week.

Once they discovered a jam jar full of fly eggs where my daughters hadn’t resealed it properly – I would never have noticed.

Can you imagine what it would have been like if I’d eaten them?

I have to spend a lot of money on washing powder because I’m more likely to get my clothes dirty. It also means it’s costing more in terms of electricity and wear and tear on the washing machine itself.

The bus stop is five minutes away, which might not sound very far, but when you’re carrying heavy ­shopping and using a cane, using a taxi is the only option. That can be as much as £24 a week.

I don’t go out, I don’t drink, I don’t have money for treats or anything special and I can’t really cook meals from scratch, so I rely on ready meals, which makes shopping more expensive. My weekly food bill can be as much as £120 a week.

I don’t need anything else to make me feel like a second class citizen, I already do. But any changes to DLA will make life untenable.

I fear for my three daughters’ future. There’s already a school of thought that suggests those on benefits don’t deserve them and don’t want to work. This simply isn’t true. Ask any disabled person and most will tell you they’d love to work if only they could.

I’m also a single parent, which brings its own stigma.

There’s a belief that the children of those on benefits will grow up on them too. Again, that’s not true.

Please don’t make any more cuts. The impact they have makes people more vulnerable and I fear for what will happen if more is taken from those who desperately need it.”

Here is an opportunity to contribute to research in to nystagmus.

Nystagmus affects quality of life in all sorts of ways, but no-one has ever measured its impact before. A researcher at University of Leicester is doing just that with a quality of life questionnaire that is specific to nystagmus.

If you’re over 16, have nystagmus (with or without aniridia too) and you live in the UK you can help by answering the  questionnaire. It has to be done on paper and will take about 30 minutes to complete.

To get the questionnaire, email Rebecca McLean rjm19@le.ac.uk with your postal address and saying you would like to take part in the nystagmus quality of life research. She will then post you the survey, consent form and information explaining the project.

For more about nystagmus visit the Nystagmus Network.