Because there is such a close link between albinism and nystagmus, the Nystagmus Network works closely with Albinism Fellowship UK. Chair of AFUK, Roselle Potts, will be joining us this year at Open Day to speak with researchers, to find out more about our education advocacy service and chat with families affected by ocular or oculocutaneous albinism.
We are seeking potential research candidates on behalf of researchers in Southampton (Jay Self and Helena Lee) who must be over the age of 60 and have any form of albinism. Thank you to those who have already responded. We have already found 12 people, but we really need 20 for a viable study. If you or anyone you know fits the bill, please read on …
Jay and Helena are seeking to understand two questions which have baffled researchers for some time and they need your help:
1. Why has Albinism and Age Related Macular Degeneration (AMD) never been seen in the same patient when AMD affects 1/3 of people over 75? Are people with Albinism protected from this condition?
2. Why does the retina lose function late in older animals with Albinism, but apparently not in humans?
If anyone with Albinism, who is over the age of 60, would like to help Jay and Helena find answers to these important questions, please complete the form below. Please note that by completing the form you are giving us your permission to pass on your details on to the relevant research team.
Thank you.
PRESS RELEASE ISSUED BY UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST
23 August 2018
Researchers in Southampton are in the early stages of a pioneering study which aims to discover if albinism may protect against a leading cause of sight loss.
Despite age-related macular degeneration (AMD) affecting a quarter of people over 65 and half of people over 85, clinicians have very rarely, if ever, seen a patient with both conditions.
Now, Mr Jay Self, a consultant ophthalmologist at University Hospital Southampton NHS Foundation Trust, and his team are looking to recruit anyone over 65 with albinism to find out more.
The condition is caused by faulty genes that a child inherits from their parents and affects the production of melanin, the pigment that colours skin, hair and eyes.
People with albinism can have pale skin which burns easily in the sun, white hair, poor vision, a sensitivity to light and involuntary eye movements.
AMD, which causes a gradual loss of central vision, is the biggest cause of sight loss in the UK.
“It has been an odd observation for many years that no-one can ever remember seeing a case of AMD in someone with albinism – therefore, something is going on,” he said.
“So far, using various online resources and enquiries, we have amassed a grand total of seven people in the UK over 65 who report having albinism at all and none who have been given both diagnoses.”
Mr Self, who is also an associate professor of ophthalmology at the University of Southampton, said research has shown the retina loses function in older animals with albinism but this is not clear in humans.
“We have researched this topic extensively from the records available and have this interesting phenomenon which we need to know more about and investigate further.
“It has even been suggested that the albinism itself may ‘protect’ against AMD which would be a very important finding to aid further study into both conditions.”
Anyone who is interested in joining the study can contact Mr Self on email at [email protected] to find out more.
This project is part of a programme of work at UHS, led by Mr Self and Dr Helena Lee, looking for potential ways to treat albinism and nystagmus, a condition which causes the eyes to ‘wobble’ and creates strobe vision.
In a separate study within the programme, Dr Lee, was recently awarded a £1.4 million Medical Research Council (MRC) clinician scientist fellowship to investigate the role of levodopa – a drug more commonly used to treat Parkinson’s disease – in improving visual development in infants and young children with albinism.
We join our sister charity, Albinism Fellowship UK, today in celebrating Albinism Awareness Day, with a special guest blog post from AFUK Chair, Roselle Potts.
Help us to raise positive awareness on our international campaign day
June 13th is an important date for people with albinism everywhere. It’s International Albinism Awareness Day, when people with albinism celebrate together and raise the positive profile of this rare and widely misunderstood condition.
The United Nations has officially recognised International Albinism Awareness Day as a global event since 2015, following a resolution adopted by its General Assembly in 2014.
While we’re seeing progress in gaining a greater understanding of albinism in some areas, there is still much to do in tackling the many forms of discrimination and stigma that people with albinism face. I feel very strongly that this kind of discrimination should be stamped out.
Albinism is still, as the United Nations says, profoundly misunderstood, socially and medically. And these problems exist in the UK and Republic of Ireland as much as elsewhere.
Albinism is a genetically inherited condition which is most noticeable because people with albinism have white – or very pale – hair due to the reduction of pigment in their hair, eyes and skin. It also means the person living with it suffers from partial to severe visual impairment and photophobia (a severe sensitivity to light). Nystagmus is a common factor among people with albinism, too.
People from all ethnic groups can be affected by albinism, and the Albinism Fellowship supports all of these groups with our services.
This year, the Albinism Fellowship has a message of support for our charity’s members throughout the British Isles and Ireland. We’re using the social media and communications channels of charities such as the Nystagmus Network who are involved in tackling site loss, and we are grateful for their support.
At the Albinism Fellowship, we would remind our members of the range of services we can offer to help, and would encourage people with albinism who are not part of the Fellowship to join up.
New for 2018 is our ‘Understanding Albinism’ brochure which is already proving a valuable source of information for people with albinism, parents, healthcare professionals, visual impairment professionals, school teachers and others.
This booklet is already being very well received. Existing members should already have received their copy by now. Any new members joining us will be posted a copy of Understanding Albinism as well as our members’ magazine, Albinism Life.
And there will be an invitation to take part in a range of useful and enjoyable events, including our regional gatherings and our national conference in 2019.
Members tell us that while our online resources are of great benefit, meeting other people with albinism and their families face-to-face at our events is often the most valuable resource.
We have a range of opportunities this summer for new and existing members to do just that, including the Thames Valley Get-Together in Taplow, Bucks – which will be held on 23 June, just days after International Albinism Awareness Day. We’d love to see you there.
Finally on this guest blog, a “shout out” to our fund-raisers who continue to do an immense amount to support our small charity, which is run entirely by volunteers. If you would like to get involved in fund-raising for the Albinism Fellowship – which helps us run essential events like the ones above – or sponsor us, please do get in touch.
Your support for the Albinism Fellowship is always very welcome, thank you so much.
Roselle Potts
Chair, the Albinism Fellowship
Rocco is 6 years old. He has Ocular Albinism and nystagmus, he also has other disabilities, but, for the first time in his life, his parents have got a report saying he was age appropriate at reading. They are totally thrilled because they never thought he’d read.
Well done, Rocco!
Ben Haynes is a talented young musician who just happens to have albinism and nystagmus. Ben has entered a music competition and needs your vote. We’ll let Ben explain …
Hi everyone. I’m a self employed musician from Nottingham with Albinism and Nystagmus. I performed a few songs at the Nystagmus Network Open day in Newcastle back in 2015.
I was hoping to ask you all a favour …
So I’m in this competition called Future Sound of Nottingham. I’m one of twelve semi-finalists. The winner gets to play Rock City (iconic venue) and then potentially, Splendour festival. Splendour is one of the biggest events in Nottingham. Here’s a link to the song I submitted.
In fear of sounding like a politician, do I have your vote??
You will be asked to provide both your email and mobile number. This is to ensure people don’t vote multiple times.
Once you’ve voted, please share with friends and family. Tagging people on social media is a great way to spread the word.
Thank you for your support X
Albinism researchers in Southampton (Jay Self and Helena Lee) would love to hear from anyone with any form of albinism who is over the age of 60. If you or anyone you know fits the bill, please read on …
Jay and Helena are seeking to understand two questions which have baffled researchers for some time and they need your help:
1. Why has Albinism and Age Related Macular Degeneration (AMD) never been seen in the same patient when AMD affects 1/3 of people over 75? Are people with Albinism protected from this condition?
2. Why does the retina lose function late in older animals with Albinism, but apparently not in humans?
If anyone with Albinism, who is over the age of 60, would like to help Jay and Helena find answers to these questions, please complete the form below. Thank you.
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