Yearly Archives: 2011

Website down-time

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Please accept our apologies for the fact that the site was down for a few hours on Tuesday.  We moved server and it took a little time to get the site back up and running.  It all now appears to be working fine, but if anyone spots something not working correctly we ‘d be very glad if you could let us know, so we can put it right.

Please note that passwords for the old site log-in no longer work.  We will be doing a manual reset and notifying you of your password in due course.

Your log-in to the forum has not changed.   The forum is proving to be a useful way for members to communicate with each other.    If you want to sign up and need our help to do so, please let us know.

Annie and Rea

 

 

 

anti-VEGF treatment for complications of Birdshot

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An important piece of research about treatment with anti-VEGF (anti vascular endothelial growth factor) for complications of Birdshot (and other inflammatory chorioretinal diseases) has been published.  The complications tend to be macular oedema (ME) and choroidal neovascularisation (NVC).  Some of you have been prescribed these anti-VEGFs – the most common of them being Lucentis (called ranibizumab) and Avastin (called bevacizumab).

The research findings seem to show that there have been positive results in retaining visual acuity for many people with complications when using these medications.  However, the researchers also point out that it has not been possible to undertake randomised clinical trials for people with uveitis who have macular oedema or neovascularisation and are on anti-VEGF, so they are suggesting that further trials and longer follow up is needed.   For us, it is another piece of preliminary good news, and another weapon in our armoury against Birdshot and its complications.  We recognise that further testing is required, but at least it gives us another option.

This research was conducted in Italy and we attach below a summary of the findings.

Dev Ophthalmol. 2010; vol. 46 pp. 84-95

Antivascular endothelial growth factors for inflammatory chorioretinal disorders.

Battaglia Parodi M, Iacono P, Verbraak FD, Bandello F

Macular edema (ME) and choroidal neovascularization (CNV) can complicate the course of several inflammatory chorioretinal diseases, leading to a severe visual function impairment. The most frequently involved clinical entities include for example multifocal choroiditis, presumed ocular histoplasmosis syndrome, Beçhet’s disease, multiple evanescent white dot syndrome, birdshot chorioretinopathy, acute multifocal posterior placoid pigment epitheliopathy, serpiginous choroiditis, and persistent placoid maculopathy. Results that have reported on antivascular endothelial growth factor (anti-VEGF) treatment in uveitic patients with CNV or ME have demonstrated positive results in many cases. However, bearing in mind that it has been proven impossible to perform randomized clinical trials with anti-VEGF in uveitic patients with CNV or ME, further studies with longer follow-ups are necessary to assess the value of this therapeutic approach.

PMID: 20703034
URL – http://www.ncbi.nlm.nih.gov/pubmed/20703034?dopt=Citation

Killer Immunoglobulin-like Receptor Genes

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This piece of research was undertaken by Ralph D. Levinson who is based in California, USA.   It is published in the Ocular Immunology Inflammation Journal 2011 Jun; vol. 19(3) pp. 192-2011.

The research looked at the function and genetics of killer immunoglobulin-like receptors (KIRs) and of KIR genetic associations within uveitis by reviewing a number of previously published studies.

This is an important piece of research, and although we are not scientists or researchers, we are attempting a layman’s explanation of KIRs here.

KIRs are proteins which are found on certain cells of the immune system.  The cells that KIR are found on are called natural killer cells (NK).  In essence, the KIRs enable the NK cells of the immune system to detect and attack certain viruses and tumours.   KIRs seem to differ between individuals and there is a genetic component to what type of KIRs you have.  There is a view that auto-immune types of uveitis may predominate in certain individuals with certain kinds of KIRs.

Ralph D Levinson reviewed all the publications and research relating to KIRs and uveitis, particularly Birdshot, Vogt-Koyanagi-Harada (VKH) disease, HLA-B27-associated acute anterior uveitis (AAU) and axial spondyloarthropathy.  He found evidence that Birdshot appears to have a high incidence of particular patterns of KIRs and he has suggested that this shows evidence of the implications of these KIRs in Birdshot.  He suggests further research into this subject.

This complex research contributes towards a better understanding of  what is actually happening when we get Birdshot Chorioretinopathy.  We hope that this increased understanding may be an important step along the path towards better treatment for us all.

Below, there is an abstract from the research findings, which those of you with better scientific knowledge than us may be able to understand better than us!

Source

Ocular Inflammatory Disease Center, Jules Stein Eye Institute and the Department of Ophthalmology, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles, California, USA.

Abstract

Purpose: to review the function and genetics of killer immunoglobulin-like receptors (KIRs) and studies of KIR genetic associations with uveitis. Methods: Review of published studies. Results: KIRs are receptors on NK and some T cells. They may inhibit or activate cellular function, such as cytotoxicity and cytokine production. Studies have been published examining KIR gene associations with birdshot chorioretinopathy (BCR), Vogt-Koyanagi-Harada (VKH) disease, and HLA-B27-associated acute anterior uveitis (AAU) and axial spondyloarthropathy. Evidence for increased activating and/or less inhibitory KIR and HLA gene combinations was found for BCR and VKH disease. In HLA-B27-associated disease, a trend toward decreased activation and stronger inhibition was found, except for the weakly inhibitory 3DL1 and Bw4(T80) combination. This latter combination was also found to confer risk in BCR. Conclusions: KIR genetics are complex, as are the functions of KIR-bearing cells. Nonetheless, evidence for KIRs in the pathogenesis of uveitis has been found.

The results of the study showed that  KIRs are receptors on NK and some T cells. They may switch off  or switch on cellular function, such as cytotoxicity and cytokine production. Studies have been published examining KIR gene associations with Birdshot Chorioretinopathy , as well as other types of uveitis.    Evidence for increased activating and/or less inhibitory KIR and HLA gene combinations was found for Birdshot Chorioretinopathy. and VKH disease. In HLA-B27-associated disease, a trend toward the opposite was found, except for the weakly inhibitory 3DL1 and Bw4T80 combination. This latter combination was also found to confer risk in Birdshot.

The conclusion was that  KIR genetics are complex, as are the functions of KIR-bearing cells. Nonetheless, evidence for KIRs in mechanism by which the disease is caused in uveitis has been established.

You can read more at: http://informahealthcare.com/doi/abs/10.3109/09273948.2010.538798

or at PMID: 21595535

URL – http://www.ncbi.nlm.nih.gov/pubmed/21595535?dopt=Citation

 

 

Birdshot publicity

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Two posters are being displayed at the Royal College of Ophthalmologists Congress next week, where we hope they will draw attention to Birdshot.  Nik Koutramanos’s poster was displayed at the ARVO (American Association for Research in Vision Opthalmology) conference in April 2011 and is now also being displayed at the RCO congress.  It tells the story of the detailed  Evaluation of the Birdshot Day 2010.  Nik is a trainee Ophthalmologist who was actively involved in the day and was  responsible for writing and designing the poster in collaboration with Birdshot team members:- Rea Mattocks, Annie Folkard, Claudia Wilson- Barrett (specialist nurse) , Catey Bunce (statistician), Carlos Pavesio (consultant ophthalmologist) , Narciss Okhravi (consultant ophthalmologist).

Here is Nik’s comment about presenting the poster at ARVO.

“Our poster was very popular in ARVO.  More people than I expected stopped and read it.   It was helpful that we were surrounded by dry scientific posters.  Some had nice things to say, some took a photo of it.  People were impressed that we were able to collect so much information from just one day! We had another 3 birdshot posters around us, all of which were scientific/research based. To my amazement, at some point during the day that I was presenting, a small brown bird, which had somehow strangely managed to find its way into this big windowless airconditioned building, flew over many of the posters, in big circles, and went and sat on one of the birdshot posters stands for a few minutes. I thought that was fairly strange and if I was to be a believer in omens, this could only be a good one :)”

A bird’s eye view from the patients perspective shows  Patients at the heart of Medical Education.   The poster was designed by 4th year UCL medical student  Louise Ramskold,  in conjunction with Emily Kirkby, Ruthiran Kugathasan, Nik Koutroumanos, Narciss Okhravi.

All this publicity raises the profile of Birdshot and BUS within the ophthalmological and eye worlds.

We’d like to thank all those involved for their hard work and helping to raise awareness and get publicity for Birdshot amongst professional.

 

 

 

 

Article about Birdshot in Optometry Today

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Below is a link to an article which appeared in the April 2011 edition of Optometry Today. ” Birdshot Case Study“.    It was written for us by Emily Kirkby, a student who was involved in the Birdshot Day in September 2010, with help from Rea, her consultant Nigel Hall, Narciss Okhravi and other members of the Birdshot team.

As  most of us with a Birdshot diagnosis know, Birdshot Chorioretinopathy is difficult to diagnose, particularly in the early stages before the tell tale lesions appear.  A  case study like this that appears in a widely read optometry magazine should help to make optometrists more aware about this rare autoimmune eye condition.  Opticians are the people we often first turn to when we have eye problems.  With Birdshot, it is really important to get speedy treatment and if the optometrist or optician is informed about it, we stand a chance of this happening.

Please let your optometrist know about this article – help spread the word.

Interleukin-17 and pro-inflammatory cytokines in the aqueous humour of birdshot patients

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Dutch researchers from the University Medical Centre of Utrecht have reported a connection between raised intraocular levels of interleukin (IL)-17 and other immune mediators in birdshot chorioretinopathy (Kuiper, JJ et al. 2011).

Aqueous humour (AqH) and serum samples were taken from 16 patients with birdshot chorioretinopathy and these were compared to aqueous humour samples taken from 11 age-related cataract control patients. A multiplex immunoassay was performed on the samples to determine the levels of 23 different immune mediators (T-cell, pro-inflammatory and vascular-active mediators).

The results showed that the T-cell mediators interleukin IL-2 and IL-17, and the proinflammatory mediators IL-1β, IL-6 and tumour necrosis factor α, were significantly elevated in the aqueous humour samples from the birdshot patients compared with those from the control group. Also, the elevated aqueous humour levels of IL-1β, IL-17 and tumour necrosis factor α in the birdshot patients were higher than the levels in their serum samples. From these results, the researchers suggest the ‘novel concept’ that birdshot is an autoimmune inflammatory disease restricted to the eye and associated particularly with elevated IL-17 levels.

The link below goes to the article, which was published in 2011:

URL – http://www.ncbi.nlm.nih.gov/pubmed/21570674?dopt=Citation

 

 

Neil’s story

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An Australian Birdshot colleague of ours called Neil, recently wrote to us to tell us about his experimental approach to supplements. He has been trying to find a way of improving his vision through supplements and told us why he had decided to do this.

Over the years he has been on a number of the usual toxic treatments. Following a recent flare he was put on prednisolone and methotrexate. He reports that after some months on the methotrexate, a wavy line suggested his eyes were continuing to deteriorate and 15 mg/day of prednisolone was added for a couple of months after an ERG result showed rods were bad; cones were indicating nobody home!

Here is Neil’s story in his own words (much of what he says will ring bells with many of us).

“I noticed an article http://abstracts.iovs.org/cgi/content/abstract/43/12/2542 on increased retinal activity following a trial of a group of people taking lutein, nicotinamide (vitamin B group) and vitamin E, so thought I might as well try it for myself to see if it made any difference to my ERG tests, on the assumption that it would not have a negative effect.

To mimic the study, I took a bilberry and lutein tablet, a multi-B and vitamin E tablet. In addition I took folic acid in the Multi-B which I understand helps with tolerating Methotrexate.

The ERG in January and check up in March showed that the left eye reading level had returned to the level two years previously (couple of extra lines) and I am seeing a little more when I enter a darkened room.

Retinal inflammation has gone with prednisone and I can read with my left eye again.

So all I can say is the lutein, nicotinamide and vitamin E didn’t harm my outcome.

Here are the details of what I took.

The Health food shop found me NutriVital Mega B High Potency tabs one per day
viz: http://www.nutrivital.com.au/product_detail.php?seq=23

I added Natures Way Vitamin E 500 iu – one per day although I didn’t take quite as reliably)
and 
Bilberry 10,000 plus with lutein by Micro genics vision deficiency formula – one per day
http://www.micro-genics.com.au/product/bilberry-10000-plus-vision.html

I also used Nutralife Bilberry 10,000 plus + lutein complex as the tablets were easier to take from a bottle rather than in foil.

Subsequently my GP recommended I increase the folic acid to 5mg/day to counter methotrexate effects, but the improvement was evident before then.

I was on 10 mg methotrexate once per week for a few months after complaining of loss of central clarity in left eye and an ERG test that showed basically non-detectable response to rods and cones with some small response to flashing light, but not for night vision. Some wavy lines at the edge of the computer screen worried me and a scan showed some retinal swelling in central left eye, so (reluctantly) I added 15 mg/day prednisone.

I tapered this back myself to 10 mg/day until just before the next ERG was due… then…
Coming back from a fishing trip I noticed light poles bent half way up – 1m to the right through my left eye, so I boosted for a few days to 20mg/day prednisone to try to cheat on my ERG.

After verbally savaging my 20 year old son and snapping at my wife, I admitted defeat and reduced the dosage of steroids.
ERG showed 50’s and 60’s for rods and cones this time and I felt night vision had returned to vaguely useful entering a dark room and possibly dusk driving. (evidently normal range is 250 to 600 so I hardly starred it, but it’s better measurably)
Stayed on 12.5 mg/day prednisone for a couple of months and bent poles went away – slight horizontal bump in reading 12 point letters but left eye continues to improve and down to 10 mg/day prednisone.

Eye section scan showed rods and cones in left eye looking reasonably normal thickness in parts of scan which is interesting as I feel my peripheral vision has improved in that eye. Eye chart was about 2 lines better with pinhole as glare still a problem so I’m back to 2009 levels on the irrelevant eye test.

My choice of sunglasses has changed from dark grey or yellow to light grey polarised and I can almost say glare tolerance is improving as a consequence of this choice for driving.

Can’t say if prednisone or supplement has contributed to improvement but I continue to take both as the trial lasted 12 months and I am 7 or 8 months on from trying it.

Red wine, chocolate and thai curries are also a feature as is dark matured Australian Bundaberg Rum with Coca-Cola, so feel free to adopt any that appeal – with lots of fresh fruit.”

LoL Neil

 

 

How can we get hold of new medicines?

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Many of us with Birdshot will have experienced the difficulties of getting hold of medication that controls our Birdshot, if we don’t respond to the ‘usual’ medication regime of steroids and mycophenolate mofetil.  For many of us, we have had to get our consultants and GPs to apply to the relevant health agency (usually the Primary Care Trust that covers our area) for a ‘special circumstances hearing’.  Often, this takes months, only to be told, at the end of the process, that the PCT will not approve the medication regime we have applied for.

Well, help is at hand!  Not only is a ‘rare disease strategy’ being implemented across the UK in 2013, but also, the Genetic Alliance UK is currently looking at how we, with rare diseases, should get access to medications (none of which have been specifically licensed for our disease) and who should decide whether they are safe or not.

You can help.

The Genetic Alliance UK is now launching a recruitment campaign for an innovative and exciting research project about new medicines.

They want your views and your participation – It’s all about getting your views heard.  Below, we include a few more details about the project and how you can get involved.

Anyone interested in participating should visit the Genetic Alliance website for full information but here is a short summary:

New medicines: How should we weigh the risks and benefits? And who should do so?

Genetic Alliance are looking for people who are affected by a severe, rare or genetic condition, to take part in a Citizens’ Jury later this year. They are looking for up to 16 individuals to form a diverse jury that will deliberate a very important issue – the risks and benefits of new medicines. Not only will jurors get their voice heard in an innovative and high profile way, but they will be paid for their time too!

There is further information available about the project and how people can get involved on the Genetic Alliance UK website, including a short explanatory video clip and an online questionnaire for people to register their interest.

The aim is to generate as much awareness and interest in the project as possible! To  find out more please contact Project Officer, Amy Simpson (asimpson@glam.ac.uk) or Marketing Officer, Julian Walker (Julian@geneticalliance.org.uk).

 

Rea and Annie

 

 

 

Susan Krieger faces daily what we all fear

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Susan Krierger suffers from “birdshot retinochoroidopathy,” which the lecturer in feminist studies describes as a “rare autoimmune disease that causes inflammation on my retina and choroid and affects both my central and my peripheral vision.” The upshot: She’s blind, or rather, on a long journey toward blindness.

Krieger’s latest book, Traveling Blind, is her discovery, with companions, of a new world and a new kind of vision as she journeys through cities, airports and the deserts of the Southwest.

Information about Susan’s books can be found here.

Short Birdshot Day Movie

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Here is the five minute movie which has been made for us by Alan Lacey  (w3media ltd), from some of footage taken on the Birdshot day back in September last year.   We were very luck to get Professor Peng Tee Khaw from Moorfields to be the Narrator for us and we are hoping that it is going to be posted on the NIHR website.     We thought some of you who weren’t able to make it might like to view it to get a taste of what went on.

We are already planning the next occasion and hope to have it early in March next year.    As soon as we have a date and a venue finalise we will be advertising it here.

Next year, we hope that more of you will be able to come and we want to make it even better than the last Birdshot Day.

We understand that the DVD which includes all the talks and interviews  from the day is also nearly completed.   Watch this space!