Congratulations to Grace, who has WAGR and won the local Child of Sussex awards in June. She was nominated by her school, and then got through to the final 50 nominees. She won her category of Children’s Champion being recognised for her resilience, kindness, positivity and her shining light.
At our recent online meetup to mark Aniridia Day and Father’s Day, we heard from Simon, 43, who has aniridia and is bringing up a child with the same condition.
In his talk he shared what it’s like to navigate aniridia from both sides. His son is going through many of the same things that he did growing up, yet the world has also changed and many of the challenges are new or different.
Check out the video and transcript of his talk below.
Transcript
So I was born in ’83 and I was the first person in my family to have Aniridia as well. My son was born in 2010 and I always knew there was a chance that I would pass on the phenotype of PAX6.
And my parents and I had blood tests carried out. I think it was Professor van Heyningen actually who analysed the samples, which would have been in the early 2000s. And at the time they didn’t find any abnormalities in PAX6, but I remember being told at Moorfields that there’s still around a 50% chance. But that was as much genetic counselling as we had at the time.
So I suppose when Wasim was born, having the diagnosis wasn’t necessarily unexpected but it was still quite worrying. He was born in Barnet Hospital in London and it was identified I think the day he was born or the day after.
And he was seen by an ophthalmologist at Barnet Hospital, but she quickly referred him to Professor Tony Moore at Great Ormond Street. So he was under Tony Moore’s care for the first few years. So I think we were fortunate in that we were in London and we were near to Moorfields and Great Ormond Street.
But when he was around one and a half or two years old we moved to Nottingham, as my parents wanted us to be nearer to them. And then we transferred to Queen’s Medical Centre, where I think both he and I found that there wasn’t the same level of care or expertise in terms of dealing with Aniridia and related eye conditions.
Fortunately now we’ve moved to Rugby, so he is being seen at Moorfields once more, and I think he’s due to be transferred to the adult services clinic. Well he’ll probably be seen in clinic for the external eye disease clinic like me, probably under Daniel Sibley or Saj Ahmed.
So he’s nearly 16, he’s in year 10. He’s not quite sure about what he wants to do, but he’s doing reasonably well at school. And fortunately I think things have developed a lot. They’re probably still not perfect, but in terms of special educational needs provision, the schools he has attended in Rugby have seemed to be much more forthcoming in terms of support.
There have been a few difficulties with things like his photoreactive glass lenses, and some teachers haven’t read through his file and then they’ve queered why is he wearing sunglasses when he’s indoors. But generally I think things have been a lot smoother for him than they were for me when I was going through school.
And I think probably, from a father’s perspective, as somebody who has Aniridia and many other related eye conditions, I think that’s helped me in a way to empathise with him and to be able to understand what he might be experiencing.
For example, a lot of his friends are now talking about learning to be able to drive and we’ve obviously had to have the conversation about how his vision won’t be sufficiently correctable. And I went through that when I was 11 or 12 years old, and as a child I was somebody who was obsessed with cars, so I remember how difficult an experience that was for me when I was being given that information.
And I think also it has helped in that when I’ve gone to medical appointments with him I’ve been able to ask questions. For example at Moorfields he was being seen in the paediatric strabismus clinic. And because recently in the last five to ten years I’ve started to have issues with cataracts and corneal scarring or Aniridia-related keratopathy, obviously a concern I’ve had is that he might suffer some deterioration in his vision or chronic eye pain later on in life. And maybe it wasn’t widely known about when I was a child.
So I’ve now asked for him to be referred to the paediatric cornea clinic at Moorfields Eye Hospital and he will be seen under external eye disease. So hopefully he’s in the best possible place.
But they’ve said so far he does have cataracts, but there’s no sign at this stage that he has any issues with his corneas. But we do keep nagging him to put his lubricating drops in. Quite how often he’s doing it we don’t know.
But I suppose overall my observation as a parent who has Aniridia is having had that first-hand knowledge and the experience, I suppose it helps in terms of supporting and empathising with what a child might be experiencing, in summary.
This year’s Aniridia Day on 21 June coincided with Father’s Day. So we held a special online meet up to explore parenting topics, with 3 short talks and an open discussion.
One of the talks was by Mark, 62, who has spent almost three decades supporting his son Harry, 29, who has aniridia.
Mark reflected on what he has learned over that time, from Harry’s diagnosis through his childhood, school, and into adulthood — and the highs and lows along the way.
His main observations were:
It’s a unique journey for each family
Seek friendly professionals
Aniridia provides challenges but it is what you make of it
You can watch the video of his talk and read the transcript below.
Transcript
I don’t have Aniridia but Harry, my second son, does. And I thought I’d look back from a dad’s perspective of what I recall from the best part of 30 years with Aniridia.
If some of this seems familiar, it’s because it builds on the Journey With Aniridia talk that Harry and I gave to the Aniridia Aniridia Network UK conference in 2014, which is why the slides I’ve got have been trimmed from that and they’re not quite on brand. So apologies for that. And of course the YouTube for that is on the Aniridia Network homepage, so if you’ve watched that recently, some of this will be familiar.
What I found interesting when I read my notes from 2014 is how much of this journey I’d forgotten. The fights and the struggles and the coming to terms with being different, and making adjustments, and being involved in advocating, had all become a distant memory. Which is probably a good thing in that the hassle and the heartache doesn’t continue. Things do get better.
So it’s a unique journey for you. Every family has their own personal journey and each person in the family has their own separate journey, all shaped by circumstances, and you become your own experts in the condition.
Looking back, my journey as a dad has been one of providing practical help and taking a scientific approach to understanding the condition. Whereas in contrast Andrea, Harry’s mum who’s sitting out of shot beside me, has been the more reassuring and supporting emotional. And I think between us as parents we’ve covered most bases for it.
And for context, there’s no previous occurrence of Aniridia in our family. And I think it was quite interesting listening to Harriet, because she’s laid the groundwork for an awful lot of things that we’re going to be looking at.
So, Harry was born 30 years ago, half of my lifetime, in the early hours of a cold November morning in 1996 in Furness General Hospital in Barrow, which is a remote town in Cumbria, famous for building submarines.
And as soon as he was breathing, the midwife counted his fingers and toes, Something that hadn’t been done when Harry’s elder brother had been born in Royal United Hospital in Bath two years earlier. And when I asked, they said “your elder son wasn’t born in Barrow”. Ten fingers and toes, no genetic problems, I mistakenly believed.
We moved up to Scotland when Harry was only a few weeks old. And he was referred to Glasgow Children’s Hospital for checks at his eight weeks check up, and Aniridia was diagnosed.
The explanation of the condition then was clinical, blunt, with no attempt at reassurance and, what’s more, no practical advice that answered what does this mean for Harry and for us, his family? And we really wanted real world answers.
In 1996, there was no social media and a search of the early internet threw up only medical information, much of which was inaccurate or not relevant for the UK. And it wasn’t what we wanted. We were looking for practical information drawn from lived experiences.
It’s easier now with social media and niche community groups, but 30 years ago it was by word of mouth. And the most helpful conversation that gave us some reassurance was with Yvonne Boone, who then was part of Aniridia UK.
Harry was subject to the six-monthly routine of a range of tests, which weren’t well coordinated. And it took us a few years of chaos to finally realise that there wasn’t a standard way of doing things. We had to start working it out for ourselves.
We kept lots of notes – what’s happening, what experts say, what the plan is, and making lists appealed to my nature. It was something that I could do by being pretty systematic with it. And the lists included any significant differences in Harry’s behaviour compared to his elder brother.
And we slowly came to realise, to our great relief, that in most respects, Harry was a normal, happy toddler. But after three or four years we still didn’t really understand how best to treat Harry’s sight with glasses. By this stage he had prescription lenses, but he’d been wearing kids sunglasses at the time, and they didn’t work with prescription lenses.
Eventually we found a specialist ophthalmologist, and although he was 90 minutes away across Glasgow, the journey was worth it, because in our first 45 minutes with him he did more tests on Harry’s eyesight than had been completed in the previous three years.
And that leads to my second observation, to seek out friendly professionals, find the experts and get them to answer your questions. They do exist, but you might have to get recommendations.
We were offered loads of really useful information, much of which hadn’t been mentioned at all in the previous three years of growing up and diagnosis and hospital visits. And I’ve got to admit, I really enjoyed the visits, and understanding the technical and scientific or practical side of Harry’s Aniridia. And being able to break it down into cause and effect really helped me to understand it.
About this time we started to think about nursery and preschool, and we realised that even if teachers wanted to, they wouldn’t find information that was important or relevant to Harry in textbooks.
We drafted a simple A4 information sheet to summarise our knowledge and related observations of Harry’s eye condition and how they affected him. This was done with Harry’s input as best he could and then written from Harry’s perspective, and this personalised sheet of “My name is Harry” was our first pupil’s passport.
And by writing down what we knew, Andrea and I discovered that each of us had spotted different aspects of how Harry reacted to things. And even now, after 30 years, there are still aspects of Harry’s condition that only one or other of us still understand.
In 2003, when Harry was seven and settled in primary school, we moved from Scotland to the Forest of Dean on the Severn Estuary in Gloucestershire. Our local village was small, only 60 pupils, and what a contrast.
This was a very different care regime, and we thought Scotland had been chaotic. But in England, there was no joined up support, and Gloucestershire seemed very fragmented. We were starting again from scratch, but by now we were becoming battle-hardened.
We revised the pupil’s passport with Harry’s suggestions and turned it into a booklet. He understood his condition and wrote it up as a diagram. “Where the arrow is pointing, that piece is called ‘Iris’. Some people have an iris and some people don’t, like me, Harry Westwood.”
But within six months, it was clear that his self-esteem had taken a knock and that he was struggling at school. We called a meeting with a head teacher. Harry was eight and was very aware of what was wrong and how he thought things should be changed for him.
We reviewed everything that we could think about at school, and it turned out to be a really good learning session for both us as parents, for Harry, and for the teachers. We pushed for a statement of educational needs to be put in place before his SATs started.
But not only did we want support and adjustments for the things that were holding him back, we also needed to manage people’s expectations about what Harry could still do normally, and what he would want to do, to prompt people to set prior expectations for him.
Andrea and I became parent helpers at school and we both got involved in helping the local Scout group to support Harry. I’ve ended up running our local Scout group for the last 23 years and find myself advocating for all young people who need support when their parents claim they can’t or won’t do such and such a thing.
And I find it interesting that quite often parents of capable young people unknowingly put constraints onto what they think their children can do. So it’s not just medical conditions that hold young people back. Parents’ expectations can also hold back.
Now eventually it came time to move to secondary school. He was going from a village school to one that was ten times the size, where Harry would be anonymous initially. We updated the pupils passport again, including a more thorough understanding of successes and shortfalls.
And in secondary school we had much less contact with Harry’s teachers, so Andrea arranged to meet Harry’s teaching assistant at school every Friday, as school finished. And this was a mum thing. And I became gradually less aware of details of issues and progress. For me, to some extent, Harry’s secondary school just happened.
Fundamentally though, Harry got stuck in at school, and with Scouts he completed the Duke of Edinburgh Bronze, he became a prefect in his final year, and he was determined to demonstrate that Aniridia did not define who he is.
Now his school didn’t have a sixth form, so after GCSEs we had to work on the transition between schools again. Harry’s results were good enough to get him into the sixth form at Tommy’s Grammar School in Gloucester.
They didn’t have much experience with pupils joining the sixth form with special needs, so we sat down with the SEND coordinator and explored some of the issues and again we rewrote his passport.
But by now Harry was more than capable of managing a transition. He visited the school before the start of term, took videos of the routes through the corridors, and studied them to really learn the layout of the school and how to get from A to B.
And learning routes from videos was a skill that he became renowned for. Studying routes using Google Street View, identifying landmarks so that he could find his way around. He became an expert at it and showing his friends around, and he had little difficulty navigating his friends around Rome.
Harry’s A level results got him to Birmingham University. We were excited, albeit with some trepidation at the prospect of Harry leaving our care and managing his Aniridia by himself. But he was fine. Five years at Birmingham Uni disappeared in a flash. He graduated with a Masters in Physics.
And I rattled through this, not because it is trivial, but because Harry did this mostly on his own, advocating for himself, insisting the adjustments were appropriate. And while there was a bit of support from home – publishing applications, strengthening arguments, making more coherent cases – on the whole, it was Harry’s efforts that supported him and his advocating for himself, admittedly supported by the bank of Mum and Dad.
Harry got a job in business intelligence, analysing big data, a job that’s easily done from a home office. And as with many other post-lockdown families, we find ourselves all living under the same roof, frequently working from home.
We refurbished the house to enable five adults to work at home, including setting up Harry’s study to be dark with desk space and enough sockets to support the power requirements for modern technology. He continues to help as a team member with our Beaver Scouts.
But recently though, Harry’s been having more discomfort with his eyes. His eye drops aren’t providing quite the same relief. And this hose illustrates the industrial quantity of eye drops that he gets through. Now, Harry approves of that comment as an “appropriate level dad joke”, as he told me yesterday.
Localised specialists aren’t sufficiently familiar with Aniridia to be able to provide tailored advice. So he arranged for a private consultation at Moorfields this month. And for the first time in 15 years, I accompanied him on a medical consultation.
We spent the best part of an afternoon doing a variety of tests, speaking to specialists. And suddenly I was transported back 25 years to Glasgow, filling in key details, taking notes, asking questions and checking our understanding, and again taking an active part in the consultation process. The more things change, the more they stay the same.
But there were several noticeable differences at Moorfields compared to Glasgow. Harry now had 30 years of experience to draw on and knowledge of his own condition, and was able to describe his symptoms and answer detailed questions and ask probing questions.
I had half a lifetime of experience in developing my understanding of Harry’s condition and was able to fill in gaps in his narrative, and provide broader, richer context for the doctor’s questions.
And we both had 30 years of experience of dealing with medical professionals, and were happy to keep pressing and pressing until we felt that everything had been discussed and everything was properly understood.
I think notably though, compared to Glasgow, Moorfields had the time to be thorough and ask the questions and not let up until they were content. But even now there’s more consultation to be done because we haven’t yet found out everything we need from genetic experts.
So what does this mean from a father’s perspective? Well, Harry’s done much more and achieved much more than Andrea and I dared imagine 30 years ago. But Andrea and I have become involved in and contributed to groups, organisations and our community in ways that we might otherwise not have committed to under different circumstances.
And in looking back and thinking about half a lifetime with Aniridia, I amended my final observation from the 2014 talk.
So, yeah, Aniridia does provide challenges and it is what you make of it, but also what it makes of you. There’s no doubt that it has provided challenges and opportunities. For us, it’s not been the end of the world that we vaguely imagined 30 years ago. Far from it.
I concluded in 2014 that we were probably much richer for it. But with the benefit of another 12 years, I go further and say that we are very definitely much richer for it growing up with Aniridia.
You have probably been asked this question before:
Are you a glass-half-full or a glass-half-empty person?
Well, let me rephrase that for our community.
Are you a person living in a society that isn’t built for you? Or are you a person that isn’t built for the society around you?
As a rule, I would say we with aniridia are all people who were simply not built for the design of the world around us. Does that make us glass-half-empty? Well, probably yes—but none of us can see the damn glass anyway, so let’s not worry about it!
What I am trying to say is that we all spend our entire lives constantly adapting to this environment just to make life baseline manageable for ourselves. We have all held a piece of paper so close to our face that we fear we might snort it up our nose with our next breath, simply because we’d rather strain to read it than make a scene by demanding a larger font or asking someone to read it aloud. We do it for a quiet life.
But you cannot be a ‘quiet life’ person and a change-maker at the same time.
Let me tell you the truth about living in a world that wasn’t designed for us: we are clever, capable people who have immense value to offer. We possess an elite skill set that society is actively missing out on. Paradoxically, it is the world around us that is acting like the ‘glass half empty’ and choosing the quiet life. The system looks at us and says, “It’s too difficult, there aren’t enough of you to justify adapting, it takes too much time, and it costs too much money.”
Well, I am here to tell you that is about to change.
Why? Because, if I am totally honest, I am a complete pain in the backside. But more to the point, I have the skills—and you have the skills—to shift the status quo. And no, you don’t have to be a pain in the backside yourself; you can leave that expertise entirely to me. Practise what you are good at, right?
Apart from not being able to see past the end of our noses, what do we have in common? On paper, possibly nothing. Our individual eye conditions are entirely unique to the bodies they come with; no two of us navigate exactly the same way. But do not despair: the fact that you have to focus on what is right in front of your nose is actually your greatest technical asset. It is the very thing that will change the world in our favor.
When you demand that the world changes to accommodate your journey, you inadvertently fix the world for absolutely everybody else. Your lived experience is an unmatched professional skill set. Everybody gets older. Everybody eventually becomes more physically or sensorily vulnerable. Because we have spent our entire lives adapting from birth, we are the natural experts in resilient design. It is time we used that skill set for the greater good.
Now, at this point, you do not have to don a cape or start wearing your underpants on the outside of your trousers like Superman. You don’t have to be a loud disruptor. Though, thinking about it, maybe I will try the underpants-on-the-outside trick next time—anything to get my point across to a local authority!
You are probably thinking, “Dear God, Robert, get to the point.”
Okay, I will. I am an Accessibility Consultant. What does that mean? I’ll tell you what it doesn’t mean: it doesn’t mean moaning about rigid regulations or helping corporations tick a box. It means showing society that we are worthy of being everyone’s absolute equal. It is not our job to clumsily adapt to an inaccessible environment; it is the environment’s job to adapt to us so we can navigate with dignity.
When I walk into a high street venue and the tap-and-go card machine inevitably fails, I am instantly stuck trying to read tiny buttons on a flat, highly reflective screen without a shred of assistance. What am I supposed to do? Smash my face against the terminal so close that I could tap my PIN number out with my tongue? Or am I forced to compromise my financial security and beg a stranger, “Please read this for me, here is my code”?
I don’t want to choose between feeling that vulnerable or that anxious. What I want is simple: I want that business owner to have placed a low-cost visual magnifier right next to the card terminal. It doesn’t structurally redesign the hardware, but it gives me an immediate fighting chance at independent customer logic. Just imagine how much better the high street would be if every terminal featured that simple touch. That small change benefits the whole community—including the elderly lady whose sight is fading after a lifetime of perfect vision. She profits from that magnifier just as much as we do.
This is exactly why I am taking my lived-experience walkthroughs to the public realm. Right by my home in Wrexham, an old converted railway path serves as my primary walking route into town. Currently, it is a sensory hazard: unlit at night, aggressively overgrown with stinging nettles, and obstructed by dark green and black cycle chicanes that sit at ankle height—perfect for tripping over.
Does this defect only threaten me? Absolutely not. Anyone can get stung; anyone can take an impact fall over an unpainted post in the dark. The difference is that the able-bodied public simply adapt and tolerate the decline because they don’t possess our specialized observation skills.
Wrexham County Borough Council has chosen a bureaucratic roadblock over a simple fix, which is why I am putting on my metaphorical cape to highlight the issue. The solutions are blindingly simple and cost virtually nothing:
First, paint the cycle barriers a high-visibility, contrasting color instead of camouflaging them against the bushes.
Second, establish a regular, logical maintenance routine. Don’t claim there’s no budget or staff; it takes one worker a few minutes during their regular bin-emptying route to clip back an intruding bramble or nettle before it causes an injury.
Third, fix the lighting. Ingeniously, the council already has windmill-driven streetlights on this path. The only issue is that they haven’t installed enough of them. Placing them directly over the cycle chicanes to illuminate high-visibility safety paint solves the entire navigation risk.
Whether it is me navigating with limited sight or a neighbor walking home after a few too many drinks in town, we both possess the fundamental right to travel our local paths with confidence.
Our lived journey insights can fix these broken layouts. To local authorities and high street businesses alike, I say this: give our community a moment of your time and invest in our professional expertise. Stop treating our autonomy as an afterthought, and see the untapped commercial and social value your disabled residents bring to the table. We aren’t here to make life difficult for everyone else; we are here to make infrastructure work better for humanity.
Now, if you will excuse me, I am off to remove my underpants from my head. Well, what did you expect? I can’t see a damn thing, so let’s not even talk about where the Superman cape ended up.
Learning your child has aniridia brings a range of thoughts and emotions. The effects on parents are not talked about enough, especially regarding men.
We had an evening exploring parenting topics with 3 short talks and an open discussion for everyone to mark Aniridia and Fathers Day.
Most of our parent members are mums – so there was a special invitation to the dads in our community – and for mums to get their partner to attend alongside them. And, for patients to tell their parents to come. We wanted to hear fathers’ stories, and to share your parents experiences.
What to expect
We were delighted to welcome three speakers, each bringing a different perspective.
Harriet, Researcher
Harriet, an MSc Genetic Counselling student from Cardiff University, introduced a research project she’ll be carrying out with Aniridia Network. The study is looking at “What is the impact on family members of the diagnosis of aniridia in a child, and what would help?“
Later this year Harriet will be recruiting parents and other family members for interviews about their experiences. She will explain what the project involves and how you can take part. This is a fantastic opportunity for you to directly shape research that could improve support for families.
Mark, 62, is the father of Harry, 29, who has aniridia. He reflected on what he’s learned over almost three decades of supporting Harry — from diagnosis through childhood, school, and into adulthood — and the highs and lows along the way.
His main observations were:
It’s a unique journey for each family
Seek friendly professionals
Aniridia provides challenges but it is what you make of it
Mark’s full career was as an engineer in the Royal Navy followed by a consultancy. Now he is working part-time to allow more time for his hobby, supporting scouting.
Simon, 43, shared what it’s like to navigate aniridia from both sides, as someone having it and bringing up a child with it. His son is going through many of the same things he did growing up, yet the world has also changed and mnay of the challenges new or different.
Simon has aniridia, nystagmus, optic nerve hypoplasia and foveal hypoplasia. He is married with one child and works as an IT engineer.
Conversation
After hearing from our speakers, we opened up for a group discussion. Mark’s and Simon’s stories encouraged others, to share your fears, approaches and recollections of parenthood, and family life with aniridia. There’s was pressure to speak, all were welcome to simply listen, as well as join in with questions, comments, and stories of their own.
Why now?
There are 3 important adjacent dates that we wanted to celebrate together, while leaving space for family gatherings on the Sunday:
It’s an important and exciting role where you can influence the support provided to aniridia researchers, doctors, associations and patients, across Europe and beyond. Together the directors discuss issues and take decisions about what the organisation does. They also often do the tasks agreed, for example: liaising with doctors, running events and fundraising.
These activities take place mainly in English and online, so being comfortable with both of these is important. Directors need good critical thinking, administration and communications skills. As volunteers they need to have time, enthusiasm and dedication to the objectives of Aniridia Europe.
If this sounds like and interests you follow the process decribed at the form linked to below. If you would like to discuss or find out more about the expectations, browse the Aniridia Europe website and contact post@aniridia.eu
Candidates for directors must be part of and nominated by one of Aniridia Europe’s full member aniridia associations such as Aniridia Network. Get in touch if with us if you are at all interested.
Nicky with Aniridia Network trustees James and Katie
Thanks to the generosity of Aniridia Network, I was fortunate enough to attend the 8thEuropean Aniridia Conference. This three-day event brought together international clinicians, researchers and families to discuss all aspects of aniridia.
I sucessfully applied to Aniridia Network to pay my expenses to attend the event in Sofia, Bulgaria.
The conference by Aniridia Europe covered not only the latest research being done in the field, but also aspects of clinical management and how these should be refined for different patients.
In a refreshing step away from the norm for conferences, we heard from patients about their experiences and what would be most beneficial for them.
Particularly interesting for myself, as a clinician and researcher, was hearing about some of the cutting-edge research that is being done with stem cells and targeted therapies to develop new treatments for aniridia-associated keratopathy. This included both repurposing existing drugs as eye drops and creating new types of drops, both of which show promising results and offer hope for the future. Research into stem cells grown from skin samples from aniridia patients is expanding our knowledge of the biological changes that underlie aniridia-associated keratopathy and offers more avenues for this too.
The best aspect of this fantastic conference was the opportunity to connect with other researchers from around the world, discuss the work we are doing and bounce around ideas to refine the focus and direction of our projects. I have come away from this with information that will benefit both my current research and also many ideas for future studies and collaborations.
I met Aniridia Network trustees James and Katie at the event too. Thank you again, Aniridia Network, for providing me with this amazing opportunity. I have left the conference with not only new friends, colleagues and information, but also a resolution to give more time and thought to my patients, to ensure I am providing individualised support where and when it is needed.
I was reading before going to bed when the text suddenly went blurry. “That’s very worrying,” I said out loud.
Within seconds, my right eye was only aware of the screen brightness. There was a greasy film with black dots floating around on it. My left eye was unaffected. A sense of dread descended and my pulse quickened.
I was not totally unprepared. Since birth I have had a visual impairment called aniridia. I’ve always been short-sighted, my acuity is 6/36 (typical sight is 6 times better than mine). Further sight loss was also likely at some point, not just due to old age. 9 years ago cataracts developed over a few months in both my eyes. I went from having no aids to needing a white cane and text read out to me. Operations restored my sight to the (low) level it had been previously. Compared to others with the same condition, I’d been relatively lucky with my acuity and its stability. So I have a good enough understanding of eye anatomy and my risk factors to take this seriously.
All that said, it was very scary; one eye had instantly returned to the worst period of the cataracts.
But I stayed calm and practical.
I tried my regular lubricating eye drops first, in case something was simply sitting on the surface of the eye. They made no difference.
I turned to an AI assistant. I described the above medical history and what had happened, asking it to respond as an expert ophthalmologist. The response was measured and clear. It outlined several possible causes, among them what I had guessed: retinal detachment. It advised that I should see a doctor immediately.
“What does that mean in the middle of the night at the weekend?!”
Fortunately, I live in London and have regular checkups at the world-renowned Moorfields Eye Hospital. I knew they had a 24-hour accident and emergency department. I looked up the details. I figured that the sooner any (waiting for) treatment could begin, the better, and it was likely to be quieter now than in the daytime.
I went downstairs, where my wife was watching TV. I told her what had happened and that I thought I needed to go to Moorfields right away. Equally concerned she agreed. I said there was little use her coming to wait-up with me during the early hours: she should go to bed and I’d call if and when I needed help.
1:00 Sunday: Into the dark
We prepared a bag with things to keep me going: food, reading material and an inflatable pillow!
We hugged with worry and trepidation before I set off. I took an Uber into town, passing by oblivious revellers in Stoke Newington and Hackney.
1:21am Sunday, Old Street: Unexpected challenges
The emergency department was quieter than I had expected, mostly empty with lights off. The receptionist took my details and went to speak with a clinician. She returned quickly with instructions I had not anticipated.
My symptoms pointed to an issue that was not absolutely critical. It could be investigated when the department was fully staffed. I should come back at 8am. I was given a chit to bypass triage at least.
It was now nearly 2am. I faced the prospect of getting home, sleeping and returning within six hours. I walked to 4 nearby hotels but found them all fully booked. I considered going back to snooze in a hospital chair. But I feared I’d be sitting there for many more hours later in the day too.
I made my way home and got into bed around 3.15am.
8.00am Sunday: Moorfields Eye Hospital Emergency Department
After 2½ hours of sleep and another train ride I was back at the hospital, along with many other worried people in something like the same condition as mine.
At 9.00am a nurse did the standard sight tests. My right eye could only discern the vague shape of a hand moving in front of a light.
At 11.00am I saw a doctor who did an ultrasound examination. While he could see blood in the liquid vitreous that fills the eyeball, he could not see a retinal detachment, though that had to be suspected. He referred me to the Vitreoretinal Emergency Clinic. He explained that they do examinations in the morning to prioritise their surgery in the afternoon. So if I went up right away I risked not getting dealt with today. It was best to go first thing the next day.
On my way home I noticed that I was bumping into things as I couldn’t judge distances, and was unaware of people close by on my right.
Exhausted, after lunch, I slept for the rest of the day.
As ever proceedings began with an acuity test. I was just about able to see a large letter held about a meter away from my right eye.
Another ultrasound again could not clearly identify the cause of the vitreous clouding, nor therefore the likely prognosis.
The doctor explained my choice.
Option 1: Watchful waiting
Do nothing and hope that over a few months the blood and cells floating in the vitreous will settle and get reabsorbed. The advantage was that there would be no risky intervention on an eye already complex due to aniridia. The disadvantage was that there was no guarantee it would clear, as the cause could continue. More seriously, if there was an underlying retinal issue, it would remain undetected and could deteriorate further without any clear warning signs. I’d have to visit the hospital regularly for checks.
Option 2: Surgery
A vitrectomy would remove the cloudy vitreous fluid and enable the surgeon to examine the retina to find, and if necessary, treat the problem. In time the eye would naturally refill it with clear fluid, restoring sight. The recovery would likely be shorter: weeks, with only one follow up visit. On the other hand, on top of the standard surgery risks, for people with aniridia, there is an elevated risk of inducing glaucoma or even aniridia fibrosis syndrome – which could reduce sight in the longer term.
Decision
I chose surgery. My level of sight was already very low. I hoped for the faster restoration and to avoid the uncertainty of both the cause being a one-off or ongoing and whether it would be improving or worsening over time. That it was even offered reassured me that surgery was worthwhile. That was my personal calculation, and it will not be the right one for everyone.
10.00am Monday, London: Me, myself and eye
Surgery was not until the afternoon, so I had 3 hours to fill. I tried to visit one of the nearby museums, only to discover that they were all shut on Mondays! I eventually went to UCL where the preserved body of philosopher Jeremy Bentham is on display. After the treat of a burrito for lunch, I made my way back to the hospital.
1.00pm Monday, Operating Theatre: Making light of it
I was actually first on the list for surgery.
It was performed under local anaesthetic. Having previously had cataract operations under general anaesthetic, I was apprehensive about this. I did not relish the idea of seeing someone come at my eye with a scalpel. In practice, the worst part was the preparation: the anaesthetic injections and doing whatever they do to keep the eye open. I try not to think too much about that or the operation itself, let alone Google it!
Once underway, there was no discomfort. My left eye was shut/under a plastic cover. My right eye was too clouded to make out what was happening.
What I could perceive was both strange and fascinating: the silhouette of a long thin device akin to a vacuum’s crevice attachment. I watched it suck out the cloudy vitreous and black floaters. Next it injected a dye (akin to seeing food colouring being added to water) to help the surgeon identify bits that still need to be removed. Then it hoovered up the dye again. At other times it was a bit like looking through a kaleidoscope.
There was a trainee observing and asking questions. So I heard the surgeon explaining what they were doing. I already knew or had just read up enough to follow along and get the idea that it was positive.
They found a vasoproliferative lesion (abnormal blood vessels on the retina) which had bled. They chose to leave it alone rather than risk fiddling with it. Critically, there was no retinal detachment. They refilled the eyeball temporarily with saline and an air bubble (not a longer-lasting gas). There was also no need to maintain a specific posture (such as face down) during weeks of recovery. On the spectrum of possible causes and outcomes, this was all at the less serious end.
The procedure had taken approximately twenty minutes.
Soon, they were sealing the incisions and taping on a patch. I sat up on the operating table to get into a wheelchair and be taken to recovery.
I was given a cup of tea and custard cream biscuits – oh, and medication for the coming weeks. I was declared unfit for work for 2 weeks. Within an hour I was free to go. I walked out, got in a taxi and was home by 4pm.
Tuesday, Home: Not a patch on normality
As instructed, I removed the eyepatch and cleaned the eye with cooled boiled water. It was bloodshot and sore. I took paracetamol for the aching. I had two types of eye drops to take 4 times a day to reduce inflammation and prevent infection.
Sight was still extremely limited, similar to before the operation. What was different was the rough black line across the middle of my vision. This was the boundary between the air bubble and saline. As I shook my head I could see it sloshing around. As advised, over the next few days the bubble got smaller as the air dissipated to be replaced by natural fluid.
Counterintuitively, the line descended rather than rose in my field of view. I tried in vain to understand why. I believe this paper explains it: Optical Effects of Intraocular Gas Tamponade.
An AI assistant explained it in this simplified way:
“The lens inverts the image projected onto the retina — light from above hits the lower retina, light from below hits the upper retina. As the air bubble shrank, its lower boundary rose inside the eye, unblocking the upper retina first. Since the brain corrects for the lens inversion, this appears as the line moving downward in perceived vision.”
The jiggling line was quite distracting; it made me feel a bit motion sick. The blurriness interfered with the sight of my left eye. I got a patch to reduce the effect of both.
Thursday, Home: Keeping my spirits up
3 days later, the air bubble formed an arc when looking forward and a circle when looking at the floor. I could jiggle it around. It continued getting smaller. It was like looking through a spirit level. If other surgical gases had been necessary the bubble would have lasted weeks.
Meanwhile my vision slowly began to get clearer. While it lasted, the bubble actually was the best area and even had a slightly magnifying effect.
I found brightness difficult as it was scattered by the blurriness to become glare. I could see backlit screens, but white backgrounds overwhelmed black text.
I found that switching my computer and phone to dark mode (white text on a dark background) helped significantly. Very encouraging.
Friday, Home: Words of encouragement
4 days after surgery, my right eye could read text on my phone again. It was difficult, like looking through a condensation-covered window, but readable. That felt wonderful.
Over the weekend the bubble had shrunk to be a circle, only visible with my neck bent to look at the floor. It then disappeared.
However, I was experiencing really bad headaches/pain. I had thought they were due to the surgery or disorientation. But that had passed while the ache around my right eye had grown. It kept me awake at night and incapacitated me the following day – though paracetamol helped a lot.
After phoning for advice, I returned to the Vitreoretinal Emergency Clinic.
As I suspected, the pressure in my right eye was high (30 mmHg), compared to my left eye (20 mmHg) and my normal readings.
My medication was changed:
fewer dexamethasone drops (anti-inflammatory steroids) that can cause pressure to rise.
new anti-inflammatory and pain relief, non-steroidal drops (Acular – Ketorolac Trometamol)
drops to reduce the production of fluid in the eye to reduce the pressure (Cosopt/Codimaz – Dorzolamide/Timolol).
Sunday: Working well
Two weeks after the bleed and surgery, my vision is almost back to normal (for me) -I think. The main difference between the vision in each eye is that the right has a yellow tint. It is more sensitive to bright light but I think it always was the one I’d squint most anyway. Hopefully, the tint will reduce as the fluid clears further.
I’m due to return to work. I have a follow-up appointment at Moorfields in a few days.
Reflections
One thing I found difficult during recovery was the lack of illustrations of the experience to compare to my own. That’s partly why I wrote this post.
One account suggested that the bubble area should be relatively clear. I was worried at first that was not the case for me.
The sudden loss of functional vision is frightening. I tried to take each step at a time, noting that I still had a half-decent eye and that I had a lot of great support around me, at home, at work and in hospital to deal with the problem however it turned out.
The care I received at Moorfields was excellent and amazingly fast. From the moment the bleed occurred, until surgery was about 37 hours. Then nearly completely vision restoration within a fortnight.
I feel some things should be better though. They have not had an impact on me but I can see how they could on other people.
When I looked it up, the emergency phone line for Moorfields A&E was not 24 hours or even 7 days a week. One call would have avoided my early hours dash to central London. Perhaps it could have diverted to NHS 111.
The hospital could have offered me a comfortable place to sleep between 2am and 7am rather than sending me away.
I’d like the medical staff to indicate they have looked at my extensive eye health notes before speaking to me. Because I couldn’t be sure they had all the information, I felt I needed to explain facts such as my underlying aniridia and prior cataract operations. It was unnerving.
Thank you
I want to thank everyone at Moorfields Eye Hospital who was involved in my care. I am grateful also to my regular ophthalmologists, who were supportive when I informed them by email.
Most of all, I want to thank my wife. She sent me off into the night with composure and kindness when it was very concerning for her too. She has been wonderful and patient with the patient throughout.
If similar has happened to you
Sudden vision loss needs to be assessed urgently. Get in front of an eye doctor as quickly as you can.
Consider the options of waiting and surgery in advance if you can. If you are facing the same decision, talk it through honestly with your surgeon. There is no universally right answer. The choice depends on your eyes, thoughts on surgery, circumstances, and what you can live with.
For those with aniridia or other pre-existing conditions, the additional surgical risks are worth discussing specifically, not dismissing.
My very best wishes for a swift and successful recovery to you.
We held 4 friendly online/in-person gatherings of patients and their relatives to celebrate Rare Disease Day 2026.
London Euston Station: Starbucks: Aaron, Johnathan, Keith, James, Emily and children
Cambridge: M&S Food Cafe, Market Hill: Tony, Andy, Laura, Anastasia and children
Manchester: Piccadilly Tavern: Gemma and Katie
Online via Google Meet: Annie, Cerys, Simon, Johnathan, Andy, James
It can be hard having a rare disease and feeling like you are navigating this journey alone. So we enjoy talking to ask questions and hear from people who can share insights into living with aniridia. It makes a difference and empowers us.
To fit with the theme of Rare Disease Day, we focused on equity in medical care, discussing positive and negative experiences as well as self-advocacy with doctors.
We host events around this time of year to mark Rare Disease Day. It’s an international celebration held annually on the 28 February (29th on rare occasions!)
It’s aim is to work towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
With over 300 million people worldwide affected by rare diseases, this day serves as a crucial platform to highlight the importance of research, support, and resources for those who often feel overlooked. It’s a day to stand in solidarity, share stories, and foster a sense of community among those facing unique challenges.
Since its creation in 2008, Rare Disease Day has played a critical part in building a community that is multi-disease, global, and diverse– but united in purpose.
The theme of Rare Disease Day in the UK is ‘equity’, defined as ‘meeting people’s specific needs and eliminating barriers preventing their full participation in society.’
People living with a rare condition face many challenges with accessing health and social care services. This can happen for many reasons, including a lack of knowledge among healthcare professionals to support timely diagnosis and appropriate treatment, or limited access to specialist centres where care is provided.
People with a rare condition may have worse health outcomes than people in the general population due to the limited services and support available to them, and the support for people with different rare conditions is highly variable. Differences in health opportunities and outcomes which are systematic, avoidable and unfair are defined as health inequities, which are important to address to ensure that services are equitable for all people in the UK. (England 2025 Rare Disease Action Plan – summary of health inequity scoping review).
Why your voice matters
People living with, or affected by, a rare condition are the experts in their rare conditions. Your personal story is the most powerful tool for driving change. Sharing your experience is important because it can help to: – Humanise statistics and data: It shows decision-makers and the public the reallife impact of rare conditions. – Inform better policy: Your lived experience highlights the gaps in the system, such as diagnostic delays or lack of coordinated care, providing evidence for the changes we campaign for. – Build community: It connects you with others, reducing isolation and fostering a strong, united community. By raising your voice this Rare Disease Day, you contribute directly to the ongoing work to implement the UK Rare Diseases Framework and secure a future where everyone with a rare condition has equitable access to the best care.
Key messages
When raising awareness and campaigning, use a few clear, impactful messages that tell people and policymakers what changes you want to see and why. It is important that your messages reflect what matters most to you, but you can give your messages greater weight by connecting them to the shared concerns of the 3.5 million people in the UK living with a rare condition. Here are some examples
Call for equity for rare conditions Everyone with a rare condition deserves fair and equitable care from the NHS, no matter how rare their condition is. Equitable care means addressing individual needs, not treating everyone the same. Read a briefing on equity for rare conditions from EURORDIS
Improve care coordination Only 1 in 10 adults in the UK living with a rare condition have a care coordinator to help organise different aspects of their care. People with rare conditions need well-coordinated, holistic care pathways and access to care coordinators. care coordinators. Read a factsheet on coordination of care for more information
Increase healthcare professionals awareness of rare conditions Healthcare professionals need increased awareness and training of rare conditions to prevent misdiagnosis and improve early support. Medics For Rare Disease (M4RD) provide information and learning resources to healthcare professionals who want to know more about rare conditions.
EAC enables the sharing of scientific knowledge about the rare genetic eye condition aniridia. Its goal is to prevent sight loss and deal with aniridia’s effects. It brings together patients and the world’s top experts to upskill the clinical, research and aniridic communities.
We are keen for doctors and researchers based in the UK & Ireland to take part, to get insights from those developing and delivering treatments and people living with this complex visual impairment.
We want to improve medical treatment and scientific knowledge through:
enabling networking
encouraging collaboration.
accelerating progress
avoiding duplication
If you are unable to get support from your institution; our charity will consider paying for your conference ticket plus reasonable travel and accommodation expenses. We would especially like to help people early in their careers.
Apply
Write up to 250 words to info@aniridia.org.uk explaining:
why you need the bursary
how it will meet the goals above and ultimately, (potentially) help people affected by aniridia
specifics about your work/projects in a way understandable by patients and their relatives.
You can also include (a link to) your resume for background.
If you attend the conference, we expect you to write a blog post for our website and/or speak at our next event, about your experience and what you got from it.
Please pass on details of this opportunity on to people who may be interested.
Aniridia Network 