How PAX6 gene deficiency affects your body

Posted on Dec 1, 2025 by Aniridia Network

Talk by Professor Moosajee, Moorfields Eye Hospital at Conference 2025

Woman wearing a white coats in a laboratory
Dr Mariya Moosajee

It is now accepted that reduced PAX6, caused by genetic changes involving the gene, does not just affect the eye (causing aniridia) but has an impact on many other organs of the body.

In this talk, Professor Mariya Moosajee explains the impact of PAX6 outside the eye, and expands on insights gained from looking at all the metabolites in the blood of aniridia patients.

Professor Mariya Moosajee is a clinician scientist, she is a Consultant Ophthalmologist specialising in Genetic Eye Disease and Head of the Genetics Service at Moorfields Eye Hospital, Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute, London.

@MariyaMoosajee on Threads
@profmariya on Blue Sky

Transcript

[James] Right, I’m going to pause my screen sharing and hand over to Professor Mariya Moosajee for our first talk. Welcome Mariya.

Mariya has recently been appointed as our medical advisor and we’re delighted that she’s here today, along with John Brookes a little bit later, to give us the benefit of their knowledge. So over to you Mariya.

[Mariya] Thanks James. Hi everyone, so nice to see so many of you, and really nice to actually read everyone’s little bios in the chat.

So it’s my pleasure for the next 20 minutes just to talk about the role of PAX6 and how it affects the rest of your body outside of the eye.

A little bit about myself, I am a consultant ophthalmologist, I specialise in genetic eye disease, and I see children and adults at Moorfields Eye Hospital. And I have a long-standing clinical and research interest in aniridia, and so I have seen a lot of patients with this and continue to do so.

I work with a fantastic team. One of the consultants, a neurodevelopmental paediatrician works with me, Ngozi Oluonye, she’s also on this call today. But you can see there’s a picture of the wonderful team that work to look after our genetic patients.

And then I’m also a professor of molecular ophthalmology, a scientist, and I work at UCL Institute of Ophthalmology and the Francis Crick Institute. And again I have a wonderful research team, who over the past few years have done some great research into furthering our understanding of aniridia.

So when we think about aniridia, especially as eye doctors, we tend to consider it mainly as an eye disease. And it’s an eye disease that we know can affect many parts of the eye.

So the most obvious feature is that you get complete or partial loss of the iris, leading to having a large black pupil. Children often will present with nystagmus, the involuntary movement of their eyes, which can be apparent from six weeks of age.

Individuals will suffer from reduced vision and this is partly because an area of the back of the eye called the fovea – your area of central vision – hasn’t developed fully in aniridia, and we can detect this by doing various scans in clinic.

But individuals can also have abnormalities involving their optic nerve, the nerve that sends signals from the back of the eye to the brain. It can be underdeveloped or it can fail to fuse completely, called a coloboma.

Later on, individuals can develop cataracts, glaucoma, corneal keratopathy leading to opacification of the cornea, you can get droopy eyelids, and some patients can even get retinal detachments.

But aniridia is no longer considered an isolated eye condition. It’s thought now to be a syndrome that affects many other parts of the body, and certainly in the last Aniridia Europe meeting there was a big discussion to maybe change the name of Aniridia to PAX6 Aniridia Syndrome, so it reflects more correctly the involvement of the rest of the body.

So there are various different features that affect different parts of the body in aniridia patients. Individuals can suffer from obesity, they can suffer from diabetes and, prior to a diagnosis of diabetes, insulin resistance and high glucose levels in the blood.

They can suffer from something called central auditory processing disorder. So their hearing is normal but their processing of what they’re hearing is not quite correct. And I’ve given a silly example, but if I said “grab the reindeer”, they may actually hear “grab the rain gear”, which is slightly different.

Patients can suffer from problems with their sense of smell. They can actually have partial or full loss of smell. They can have brain abnormalities, so the brain structure itself hasn’t developed properly. They can have sleep disturbances, and a lot of patients develop behavioural issues such as autism and attention deficit hyperactivity disorder. And some patients can develop depression and anxiety.

So the reason this happens is because PAX6 is not just involved in eye development. It’s working in other parts of the body, such as the development of your pancreas, and particularly the cells that produce insulin. And that’s why patients have a higher predisposition to endocrine problems such as diabetes.

It’s also involved in how the brain develops, hence the issues with the structure of the brain, the problems with the sense of smell, and potentially the behavioural issues.

And so having only half of the healthy PAX6 gene is the reason why we have these developmental issues, and why we get this secondary disease that occurs later in life. And just to highlight that, I’ve got a diagram here.

So we explain to patients that we inherit one set of genes from our father and one set of genes from our mother. So if we can imagine we have two copies of every gene – one from mum, one from dad. So we have two copies of the PAX6 gene.

Now, in my case, I have two healthy copies of the PAX6 gene, and it produces a full amount of PAX6 protein, and that allows my eyes to develop healthily.

But in aniridia, you inherit one healthy copy of the PAX6 gene from one parent, but you can inherit a bad copy of the PAX6 gene from a parent. Or you yourself, when you were developing in the womb, may develop a mutation on one copy of your PAX6 gene.

And that leaves patients with aniridia with one healthy copy and one bad copy. And because of that, you only have 50% of healthy PAX6 protein and 50% is missing And it’s that lack of that 50% that gives rise to all the problems.

So we undertook a study a few years ago, where we looked at all patients at Moorfields Eye Hospital that had a diagnosis of PAX6-related aniridia. They had genetic testing and they had PAX6 mutations. And we looked at some of the involvement of other body parts.

And what we found was that in our cohort we identified a large number of patients with type 2 diabetes. Around 13% of patients had this and this was actually twice the UK prevalence. So an aniridia patient is twice as likely to develop diabetes than someone in the normal population.

A large number of patients, over 23%, had obesity, 7% had learning difficulties and 2% had autism. And there were other associations with hyperthyroidism, hypertension, high cholesterol levels and also asthma in the cohort.

So we wanted to try to investigate this a little bit further, by trying to see if we could detect any changes in the blood of our aniridia patients, that could explain why they were more predisposed to these conditions affecting the rest of their body.

And so we decided to do something called whole metabolomic profiling. So essentially what this means is that you can take the blood of a patient, and you can spin the blood down, and you can extract the plasma from the blood. And then you can send this plasma and you can screen it for over a thousand metabolites in the blood. And this could be proteins, it could be carbohydrates, fats, vitamins, caffeine, any metabolite that’s in your bloodstream it can detect it.

So we did this for 25 aniridia patients and 25 age and gender matched healthy controls. We got every single patient to fill out a food frequency questionnaire and this gave us an idea of what individuals were eating over a period of time, to make sure that the results were not skewed – for example, aniridia patients having a much healthier diet than their normal controls or vice versa.

But we found that there were no differences in the dietary intake between aniridia patients and healthy controls. And we had to exclude patients that had diabetes, or those that were taking statins for high cholesterol, because that would have altered the blood metabolites.

So we included seven children in our cohort and 18 adults. The mean age was 31 years and 48% of the participants were male.

Now we calculated an individual’s BMI and then we grouped it, and we found that actually the aniridia group fell into the overweight category, whereas the control group fell into the normal healthy BMI category.

So that’s a difference in itself, showing that although your diets are the same, the aniridia group was still more overweight than their healthy counterparts. If we looked at the composition of people in the cohort, 44% of the patients actually had obesity, compared to only 16% of the controls. Some of the aniridia patients suffered from gastric reflux.

There was a balanced amount of patients with hypertension. There was a slightly increased number of patients with central auditory processing disorder in the aniridia group, as with depression, anxiety, learning difficulties, ADHD and autism. There was one patient that had pineal gland hyperplasia, and three patients that reported sleep disturbances and were on a melatonin supplement.

So when we ran this experiment we found that there were over 94 metabolites that were different in the aniridia group compared to the healthy group. And the five main groups that were different were lipid (or rather fat) metabolism, oxidative stress, complex lipids, neuroactive metabolites and microbiome-related metabolites. And I’m going to explain some of these in a little more detail, just to give you some further insights.

So fat metabolism was disrupted. We found that there were disrupted markers of something called our fatty acid metabolism in our aniridia patients, and particularly some metabolites called carnitines. And when we looked into the literature, we found that patients who have increased carnitines have been linked to diabetes and heart failure.

So that’s just something to bear in mind, that having high carnitines in your bloodstream can be linked to cardiovascular disease and diabetes.

We found that aniridia patients had reduced levels of something called plasmologens. Now, what are plasmologens? Plasmologens are a type of fat that are found in our cell membrane.

So our body is composed of billions of cells, and the outer protective layer of our cells is called a cell membrane, and it has lots of fats in it, and plasmologens are one of them.

So these plasmologens normally provide our cells with stability and fluidity. It allows them to move properly as they should and it also gives them the ability to protect them from something called oxidative stress.

So oxidative stress is something where when you have lots of chemical reactions going on within the cell, you can generate metabolic byproducts like charged oxygen molecules, and these can whizz around within your cell and cause damage.

And so our cells need to find a way to protect themselves from these charged oxygen molecules, and that’s called antioxidants. So we need antioxidants to counter oxidative stress. And when you have reduced plasmologens, you reduce your ability to provide an antioxidant protection.

And interestingly patients with other rare diseases, for example a condition called Zellweger syndrome where patients develop cataracts, also have low plasmologen levels. And so it could be that these low plasmologens may be predisposing our aniridia patients to cataracts.

We also know that patients who have diabetes and higher fat levels in their blood and cholesterol can also have reduced plasmologens. So again this is a very interesting biomarker that points towards aniridia patients having a predisposition again to diabetes and cardiovascular disease, and cataracts in this case.

We then found that ketone bodies were high in our aniridia patients, there was an accumulation of them. Now we tend to see high levels of ketone bodies in patients that have uncontrolled diabetes.

Now remember, our cohort did not include diabetic patients, none of them were taking any diabetic medications. And interestingly there were other markers linked to high ketone levels and ketones leading to our blood being more acidic. And so taken together this suggests that our aniridia patients are in a pre-diabetic stage, possibly in an insulin resistant stage.

And so that’s something that we need to think about in terms of making sure that our aniridia patients are referred to endocrinology, that they’re monitored either by their GPs or endocrinologists, potentially in case they are going to go on to develop some form of diabetes, and if they need to put dietary or drug treatments in place before they get to the point where they need to have, for example, insulin injections.

So we also found that oxidative stress was high in the blood of our aniridia patients. Now I explained to you what oxidative stress is and there are certain markers in our blood that indicate that.

So there is a compound called taurine and this is actually a natural antioxidant. And we found that taurine was reduced in our aniridia patients. And its precursor – so the chemical compound that makes taurine in our bodies – hypotaurine, was also reduced. And so you’ve got antioxidants reduced in our aniridia patients and oxidative stress markers increased in our aniridia patients.

So what can we do about that? Well taurine, the antioxidant, is really important in our bodies. It helps us to make our bile acids and it also stimulates insulin release. Now that’s important, because we know that the cells that produce insulin in aniridia patients are already not functioning very well.

So if you’ve got something that doesn’t help stimulate the insulin production, that’s going to have an even more knock-on effect on the predisposition to diabetes. So in other conditions such as depression, schizophrenia, autism spectrum, hypertension and obesity, patients are also found to have reduced taurine levels.

So one thing that we would like to now investigate in our lab is potentially giving our aniridia disease models taurine supplementation. Because if this shows that it’s a benefit, it may alleviate a lot of the problems that our aniridia patients are facing. So this is a body of work that we want to take on going forwards, but taurine supplementation may be something that really could help the aniridia community.

So neuroactive metabolites were also found to be slightly deranged in our aniridia patients. So particularly a component called N-acetylaspartate. This was found to be increased in our aniridia patients. And interestingly N-acetylaspartate is one of the most common what we call neurotransmitters in patients.

So when you have a nerve ending and a junction between nerves, and it wants to send signals between two nerves, one nerve has to release a neurotransmitter which passes across a junction, so the other nerve can detect it and then start to send the signal onwards.

And so when there are very high levels of this neurotransmitter, it has already been found to be associated with neurodegenerative disease, but also it’s being detected in the brain of female children that have been diagnosed with attention deficit hyperactivity disorder. So just something also that could explain some of the behavioural issues that we’re seeing in our aniridia patients.

So, just to summarise, PAX6 does not just affect the eye. It does have an influence on other systems outside of the eye – obesity, diabetes, brain function and structure, sleep, behavioural issues, depression and anxiety.

And by investigating the blood, and potentially having an even more closer look at the general health of aniridia patients, not just early on but in some of our patients that are later on in life, we might get some more insights into how PAX6 affects individuals throughout their lifespan.

So just a bit of general advice on what you can do to maintain good visual function and general health.

Well, it’s always important to have your regular follow-ups with your ophthalmologist. If you are experiencing any of, or some of, the features that I’ve mentioned today in the talk, but you’ve never seen anyone for it or raised it with your eye doctor or your GP or anyone else, then I would suggest that you go to your GP, ask for a referral to a specialist like an endocrine doctor. But also bring it up with your ophthalmologist and they can refer you directly to hospital specialists as well.

But please don’t be sitting in silence. Think about the features that may be affecting you that you may previously not have thought were linked to your aniridia in your eyes, but this might be enlightening for you.

Think about your diet. It’s always important to have lots of fresh fruit and vegetables. Green leafy vegetables are incredibly good for you – spinach, kale, broccoli, salad, anything green, they’re rich in antioxidants. And fresh fruit, and fruit specifically that is blue, black and red in colour – so strawberries, blueberries, blackberries, black and red grapes, pomegranate. Anything of those colours are very rich in antioxidants so you should have loads of those in your diet. Eating fish twice a week is incredibly good for you, it’s got omega oils in there. It’s important to take regular exercise

You guys all know that it’s important to wear your UV-protected tinted or dark sunglasses in bright light. Try to get yourselves blue light screen protectors on any devices you’re using, especially if you’re holding those phones or iPads very close to your eyes. It just prevents the blue harmful light from entering in, which can also affect your sleep as well.

And then make sure you’re getting all the support that you require. So if you haven’t been sight registered, when you next see your eye doctors just make sure you raise that as well, so that you can get all the support that you need.

For any of you on the call that want to participate in aniridia research. you can register with something called Research Opportunities at Moorfields, called ROAM.

Stay in touch with Aniridia Network. Anytime we need aniridia participants we always get in touch with James and the team and send out emails, so we’re always thankful to you guys for that.

And please help fundraise, because the more funds you can raise, it means the more work that we can do, and the more research we can do to advance our understanding and knowledge, and go on to develop treatments for our aniridia patients.

I draw your attention to Gene.vision, a website we created which is fully accessible to patients. It’s got a whole page on Aniridia / WAGR Syndrome, all in lay. It’s also got information on the latest research and any other information that you need to access relating to sight loss.

So to conclude, aniridia can affect many organs in addition to the eye. We need to make sure that you are looked after holistically and we get the correct specialists in place to optimise your care. Please do visit your GP or tell your specialists if you’re experiencing any systemic problems that require any further investigation or input.

If you want to get in touch with me, you’re always welcome. We welcome you to come visit our clinic, even just as a one stop to say hello and making sure that you’ve got everything that you need. My email address is m.moosajee@nhs.net.

And a big thank you to Aniridia Network, to my clinical team and my research team. Thank you so much.

[James] Thank you very much Mariya. We’ve got time for one very quick question, and others we will pass on to Mariya and get you responses to those later. Katie.

[Katie] Florian has asked about whether there were a correlation between the different symptoms. Say, could a sleep sleep disturbance in itself cause some of the other symptoms that you found in the patients, and is there any progress towards quantifying these symptoms more, and screening for them even?

[Mariya] Yeah, so we’ve actually conducted some more work. We still have to analyse all of that. But following on from this work… because that was just 25 patients, which is enough to make a comparison between healthy and aniridia patients, but actually what we need to do is actually reach out to many, many more aniridia patients and actually find out exactly are there any correlations.

But to answer, yes of course, if you have a sleep disturbance and you’re not sleeping well, that can lead to, for example, low mood. And if you start to suffer from depression, then you start to eat more, and then you can put on weight. And so there can be vicious cycles that go on.

But what we found was that actually when we took diet out of the question, there were still things going on and our metabolism was showing that it was different between the two groups. So PAX6 I think is the underlying cause.

However, of course there’s going to be confounding factors, depending on your mood, on your sleep, etc. So a lot more work needs to be done to tease those correlations out.

[James] Marvellous, thank you very much Mariya, much appreciated. As I say, we’ll pass on the other questions that have come into the chat onto you and will get those back to the relevant people.

[Mariya] No problem, thank you everyone, thanks.

Posted in Medical staff talking | Tagged , , , , , , , | 1 Comment

Conference 2025

Posted on Nov 3, 2025 by Aniridia Network

“I found it very informative and took things from each of the talks that I feel like could use going forward to inform my own family and myself when dealing with our healthcare” Attendee

Our main event of the year was held online, 1-4pm on Saturday 1 November 2025. We had wodnerful speakers, to talk about a range of aniridia-related issues: from personal experiences to cutting-edge research.

We recorded each of the sessions and expect to publish them later on YouTube when a volunteer is able to.

37 people came along and to meet others with aniridia, and the fantastic medical and scientific experts pushing forward our knowledge on aniridia.

Trustee and communication volunteer James, who organised and ran the event said

It was another great conference for Aniridia Network. On behalf of all our members, many thanks to all the speakers for the time and effort they put into presenting to us, and for the work that led up to it too.    

James running an Aniridia Network online conference from his home office. He is using 2 monitors. The left is editing the main slide deck showing 'Conferences and Events' and the right has an in progress talk on Zoom

Agenda

Get in touch if you can play a part in next year’s event, particularly if you are willing to help make it be in-person!

How PAX6 gene deficiency affects your body
Professor Moosajee, Moorfields Eye Hospital

Woman wearing a white coats in a laboratory
Dr Mariya Moosajee

It is now accepted that reduced PAX6, caused by genetic changes involving this gene, does not just affect the eye (causing aniridia) but has an impact on many other organs of the body. In this talk, I will expand on the impact of PAX6 outside the eye, and expand on insights gained from looking at all the metabolites in the blood of aniridia patients (compared to unaffected age and gender matched control individuals).

Professor Mariya Moosajee is a clinician scientist, she is a Consultant Ophthalmologist specialising in Genetic Eye Disease and Head of the Genetics Service at Moorfields Eye Hospital, Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute, London.
@MariyaMoosajee on Threads
@profmariya on Blue Sky

Samuel Heczko

Exploring PAX6 related gene regulatory networks & its role in the developing brain
Samuel Heczko & Dr. Wai Kit (Calvin) Chan, University of Edinburgh

We all come from a single cell. But how does this cell know when and how to divide into a brain? And how does the aniridia associated gene PAX6 guide this process?

Dr. Wai Kit Chan

Samuel is a Phd student of developmental neuroscience under the supervision of Dr Chan. Samuel on LinkedIn.

Dr. Wai Kit (Calvin) Chan is a Research Fellow at the Centre for Discovery Brain Sciences. His research focuses on the molecular and cellular mechanisms underlying forebrain development and pathology, particularly in the context of human neurodevelopmental disorders. He is currently investigating PAX6 haploinsufficiency using advanced organoid and assembloid models, employing techniques such as single-cell RNA sequencing, immunofluorescence, and electrophysiology.

Privilege, Protest. Power
Elliott Lee, person with aniridia

Identifying privilege, embracing protest, challenging power have all been integral to a journey these 25 years that I could not have imagined. Fighting for a seat at the table for the most marginalised has morphed into a passion, although that has only been possible through recognising my own vulnerabilities and taking part in civil resistance. Aniridia has shaped who I am, and I have driven that into a vision for a future that carries hope and dignity for all.

Elliott is a social activist and political campaigner who champions the most vulnerable. From a shy kid to a vocal advocate, he fearlessly confronts hate, the political status quo, and even has an arrest under his belt (From protesting). Mission? ensure every voice is given its place at the table.

Annual General Meeting 2025
Aniridia Network trustees

At the annual general meeting the trustee’s will seek approval of the minutes of last year’s meeting, then present highlights from the charity’s annual report, giving time for questions and comments. The results of the trustee election will also be announced.

Emily Nash

Can access to station information improve train travel for people with sight loss?
Emily Nash, Coventry University

My research is looking to identify and understand what barriers currently exist and find solutions to improve access. I will talk about how interviews and a usability study are helping achieve this.

Emily Nash lives in South Wales with her two children and they all have aniridia. Emily is currently completing a PhD in improving access to train travel for people with sight loss. She presented at the 2023 conference about her lived experience and the plans for her research.
Emily has been a member of Aniridia Network since 2015 and was a Trustee when she first joined.
Emily Nash on LinkedIn

John Brookes

Management of Glaucoma & Aniridia
Mr John Brookes, Moorfields Eye Hospital

A presentation about aniridia issues, particularly regarding how glaucoma is treated in children and adults with aniridia, from medical to laser and surgery.

Mr Brookes trained in London and qualified in 1993, subsequently specialising in ophthalmology and further, in paediatric glaucoma, for which he has been a consultant at Moorfields Eye Hospital since 2004. His main interest is in secondary glaucomas in children, such as aniridia and their surgical management

Posted in Aniridia Network news, Medical staff talking, Patients' tales, Research | Tagged , , , | Leave a comment

Annual General Meeting 2025

Posted on Nov 1, 2025 by Aniridia Network

The Annual General Meeting (AGM) of Aniridia Network, a charitable incorporated organisation, was held online on Saturday 1 November at 2.40pm to transact the business below, in accordance with our governing document.

It was a session of Conference 2025, between interesting online seminars by patients and professionals.

Agenda

  1. Minutes of Annual General Meeting 2024 (see also video below)
  2. Matters arising
  3. Reports & Accounts – To receive and consider the:
  4. Announcement of the results of the online vote to re-appoint Andy Baghurst as a charity trustee until the 3rd AGM after this one, subject to the compulsory retirement of 1/3 of trustees by rotation at each AGM as described in the charity’s governing document.
  5. Any other business

Transcript

[James] Right, we are going to move on now to the formal part of proceedings. This is our annual general meeting of the charity Aniridia Network. And so I’m going to hand over to Andy to run this section.

[Andy] Thank you. Hello, good afternoon, everybody. So as James said, it’s the AGM now.

So the first thing that we need to do is approve the minutes of the last meeting. So these have been available on our website for a while, and were linked to in the notice of the meeting. And they’ve also been circulated in email newsletters and on social media.

If anyone has any comments on them, please raise them now. But if we don’t have any comments, we’ll take them as approved. So we’ll just give it a few seconds. And if no one starts to talk, we’ll take them as approved and then move on.

So I don’t think we’ve got any comments. So these are the key points that I want to draw attention to this year. So the annual report and accounts covers the period from 1st of April 2024 to 31st of March 2025.

We’re really grateful that two people in the year fundraised for us, and that somebody also has told us they will remember us by providing a legacy donation.

A number of events took place during the year, including the equivalent conference in July 2024. But we also hosted several in person meetups too.

During the year we moved our social media from Twitter/X to Threads and Blue Sky.

Membership of the charity has remained broadly steady, but we do struggle with a low number of volunteers. So if you do have any capacity to volunteer, no matter how much time you have, we’d be very grateful.

During the year, we also appointed some new medical advisors and developed our safeguarding policy and practices, not least so we stand ready to participate in future research, which researchers typically require from us.

We’ll start going through some of the detail. So during the year, we received three medical queries which covered a recommendation for an ophthalmologist in a specific place, a query about a link between an aniridia and another medical condition and a cataract operation on a toddler.

Our disability rights advisor didn’t receive any queries or requests for support, so just remember that that service is available should you require any advice.

In terms of befriending, we remain very grateful to Lyn for facilitating this for us. Six new buddy relationships were set up, four of which were for members with a newborn or child. Parent information packs were also sent to new members with children.

During the year, we received eight requests for education advice, with information sent including pupil passports and education health care plan resources, and one contact was from a school Senco.

So the conference, kindly organised by Tierney, was held online in July 2024, with recordings and transcriptions published online. There were a number of talks, including on how to support children with aniridia in education, as well as a talk on the development of eye drops to treat aniridia associated keratopathy.

Feedback from the conference was really positive, and so we are really grateful for that feedback, but also that people find it helpful.

So on Rare Disease Day, we held a number of meetups. So there were four cities, that hosted them, with eight members joining. And again, we got positive feedback.

So the seventh European Aniridia Conference took place during the year, with James and Katie going to the two day event in Stockholm, growing their knowledge and connecting with peers and professionals.

At the European Aniridia conference as well, the first leadership Academy took place and that was aimed at boosting young people’s confidence and creating future leaders for aniridia associations across Europe. We sponsored and supported Haya to take part, and she talked about it at last year’s online conference.

So we’ll now spend a couple of minutes talking about Aniridia Network’s finances. So our annual accounts, which I’ll talk through now, have been reviewed by and passed by an independent examiner.

As you may be able to see on screen, our bank balance grew over the year. So at year end, we had cash funds of just more than £57,000. We saw a significant uplift in donations during the year, and controlled costs by hosting the conference virtually. In the year, we spent about £2,500 and received income of just more than £11,000.

So on the screen now is a graph showing our expenditure for the year. So our biggest item of expenditure was grants to attend the European Aniridia Conference, followed by fundraising costs, which paid off as we saw the increase in donations. But the next biggest costs are running the website, as well as the independent examination of our accounts.

So this slide now covers income. So income for the year, as I mentioned, was just more than £11,000. Almost half of that came by JustGiving, with about 30% coming through CAF.

So a big thank you to everybody who donated and supported us through the year, we’re really very grateful. We don’t typically get funding from government or anything like that, so donations are important to enable us to do the things that we do.

Given our cash balance, we put some of the money in a high interest account, and earned more than £1,500 in interest.

So we’ll now move on to members and supporters. So we had 20 new or renewed members during the year, with members now just over 500, of which 161 are junior members. We also have the support of more than 230 people.

One of the challenges we do have is that when children become adults, we need them to re-register in their own right, which some aren’t doing, and we’re therefore considering a youth membership category to ease that transition.

As I mentioned earlier, we moved away from Twitter, or X as it’s now known I think. So please do follow us on our new channels. If you’d be interested in creating content for them, please do get in touch, as we would really value some help there.

Moving on, we’d particularly like to highlight a number of fantastic fundraisers over the year. So Gemma’s 3 Peaks challenge raised £735 and Jack’s marathon raised £3,080. Thanks very much to them and their sponsors. If you would like to fundraise through doing events, please do. And if you need some support from us, please do get in touch.

So our volunteer of the year is Tierney for arranging our online conference last year, including arranging the speakers, which is no mean feat. So a big thank you to Tierney for that.

We also want to say thank you to a number of other people who volunteered in different ways during the year. So those include Rachel, Simon, Glen, Lyn and Clive.

So again, as I mentioned earlier, we’ve appointed two new expert medical advisors in Professor Moosajee and Mr Brookes, who have both kindly joined us today. They are both consultant ophthalmologists at Moorfields Eye Hospital in London. If you do have any queries for them, do feel free to reach out to us and we can help facilitate that.

So I mentioned earlier that we have a low number of volunteers, notwithstanding the support that we did get. If you are interested in donating your time, we’d love to hear from you, no matter how much time you can give us. We could do with another trustee and volunteers to help with a wide range of things from member administration to communications and fundraising.

So that’s it from me. Unless there are any questions, I will hand back over to James.

[James] Yeah, are there any questions about what we’ve been up to in the last financial year or anything about the future for that matter?

[Anita] I just want to say thank you for all that you have done. It sounds as if you’ve been working really hard and amazing and very much appreciated.

[James] Ah, thank you. That’s very nice of you to say so. Cool, if there’s nothing else in the chat?

Okay, so yes, the last section here is the election. We have a rolling process, whereby every year we look to elect or re-elect our trustees, to make sure that you the members have a say in who’s leading the organisation.

And this year, it was Andy’s turn to be up for re-election, and he’s thankfully chosen to re-stand because he is our treasurer. So he keeps all our finances in order.

And so over the past one to two months, there has been an online election running, which many of you have taken part in, so thank you very much for that.

And I am pleased to say that using the online voting platform choice voting, that Andy received 32 votes in favour and zero, essentially, votes against for re-open nominations. So that’s excellent.

Andy’s actually done better than Katie and I previously, where we did get a couple of re-open nomination votes. So well done Andy, and congratulations and thank you.

[Andy] Thank you everybody.

[James] That was out of 434 voters though, so that’s just over 7% of you, the electorate. That’s also roughly, as you saw, the number of people with aniridia and parents with aniridia are the electorate there. So if anyone’s got ideas for increasing that number of participants, that would be good to hear. Perhaps we’ve got some more stuff to learn from from Elliott there in terms of profile and power and so on.

Right, next thing is a slightly last minute insertion. If I can hand over to Katie to talk a little bit about the European Aniridia Leadership and Collaboration Academy.

[Katie] Thanks James. So this is an exciting opportunity for some of you to participate in this Leadership and Collaboration Academy, which is taking place in Sofia in Bulgaria, the 17th to 19th of April 2026. So it’s taking place alongside the eighth European Aniridia Conference. And we’re looking for participants.

If you are a young person, which is quite a broad definition of young, so 18 to 40, who’s looking to build their self confidence, their interpersonal skills, their ability to organise people and projects, as well as building your aniridia knowledge through participating in practical workshops, and hearing from inspiring leaders who will guide you through developing ideas, which will benefit you and the aniridia community, and help you to build connections with a range of professionals from around the world, many of whom have Aniridia.

If that sounds exciting, that’s something you’d want to participation in, as I say we’re looking for people between the ages of 18 and 40, who have any sort of connection with aniridia. So it could be having aniridia yourself, but it could be being a parent of a child with aniridia, it could have be a sibling or a friend who has aniridia, or just a professional interest through your profession.

If this interests you and you’d like to take part, we will be funding people from the UK who would like to participate. So we really encourage you to get in touch if this sounds like something that’s exciting to you.

If you were interested in developing your own skills, helping other people, and you want to contribute to the success of Aniridia Network or Aniridia Europe, please get in touch with us.

And look out for more information, it will be coming soon. So yeah, make sure that you’re getting our email newsletters and following us on social media, etc.

[James] Yeah, brilliant. So yes, if you fancy coming along with us, Katie and myself will be going to Sofia in Bulgaria in April. So if you’d like to come along with us, it is a brilliant experience going to the European Aniridia Conference.

There are lots of people with aniridia there from all over the continent, and many clinicians and scientists, so people like Mariya Moosajee, who we mentioned earlier, is often there for example, and many others like them.

And yeah, it was brilliant when we did this Leadership Academy one and a half years ago, myself, Katie and several other people spoke at that. And again, it was a really good opportunity to meet with the young people there and to get them involved and understanding more about the community and so on.

So yeah, if this interests you at all, please do get in touch. Use our usual contact address, so info@aniridia.org.uk, for example. If you prefer to use Facebook or whatever, that’s fine as well.

So we’ll put out more information, we more just wanted to take this opportunity to advertise it. The exact application process hasn’t exactly been decided yet. But we wanted to make you aware of this now. So if you get in touch, you will actually almost help shape what that application process is. So this is an opportunity in and of itself to get involved.

So yeah, please do speak to your relatives and so on, if this sounds like something they would like to get involved with, through you.

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2025 Volunteer Awards

Posted on Sep 17, 2025 by Aniridia Network

We would be nothing with the lovely people who use their skills in their spare time to do our charitabke deeds.

We are very appreciative of the efforts of all our volunteers and hence what they get done for our beneficiaries.

To recognise particular individuals’ input, we created an annual award scheme. Winners get a certificate and a £25 shopping voucher.

This time, we have naming Tierney McGuire as our Volunteer of the Year for wrangling speakers and hosting so well at our online Conference 2024.

Tierney responded:

“This was a very unexpected honour, I want to thank the Aniridia Network for the recognition. I thoroughly enjoyed volunteering to organise the 2024 Aniridia conference and it was a lot of fun to host the event also. Having the opportunity to meet all the speakers was fantastic.

I definitely recommend people getting involved and volunteering with Aniridia Network whether it is for something small or large – it is extremely rewarding and I look forward to volunteering again in the future!”

Get involved

Come join Tierney and the rest of the brilliant Aniridia Network team so we can do even more together. We are eager to use the skills you already have and provide the opportunity to develop more, through training and experience. Look at all the ways we are looking for volunteers to help and get in touch.

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Annual Report 2024-2025

Posted on Sep 1, 2025 by Aniridia Network

Read details of what our officials, members and supporters did as well our finances between 1 April 2024 and 31 March 2025 in the Aniridia Network Annual Report for 2024/25.

Aniridia Network Annual Report 2024/2025 title slide

Key points

  • After a year with none, 2 people did fundraising plus a legacy donation
  • Several useful events: meetups, conference and leadership academy
  • Moved from Twitter/X to Threads and BlueSky
  • Membership numbers steady
  • Very low amount of volunteering
  • Appointed new Medical Advisors
  • Developing safeguarding policy and practices

Thanks to the the amazing input by everyone who helped with all these activities.

However, we continue to really struggle to do some basic things well and rely too much on a few very active volunteers. We badly need more people to help us achieve our goals. Please volunteer and fundraise if you can.

The report will be received at the charity’s Annual General Meeting 2025

Katie, James and Andy, the trustees of Aniridia Network
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Shape the RNIB aniridia factsheet

Posted on Aug 17, 2025 by Aniridia Network
Skewed screenshot of the RNIB aniridia factsheet

We have an opportunity to make what RNIB publishes about aniridia as good as possible.

They want your valuable input on their online information. Read and critique it.

What is needed

RNIB maintains details on its website about various eye conditions. These resources are often the first point of contact for individuals, families and professionals seeking reliable information to answers queries. Every three years, these factsheets get a thorough medical review and update. This is where you come in.

We all want the factsheet to provide:

  • Useful information that addresses your real-world questions and concerns
  • Clear explanations that are easy to understand for people at all stages of their aniridia journey
  • Concise content that covers essential points without overwhelming readers

How you can help

We’d love to hear from you, whether you:

  • have aniridia yourself
  • are a parent, partner, or family member of someone with aniridia
  • are a professional with an interest in aniridia
  • are new to the aniridia community or have decades of experience
  • have used RNIB resources before or are unfamiliar with them
  1. Review the draft factsheet
    If you have difficulty accessing it,we can send you the Word document version
  2. Fill in this short questionnaire to give your feedback and ideas
    To do this directly and verbally we can put you in touch with the team at Eye Health Information Team at RNIB

We will pass on your responses to RNIB. We will also use it to influence our publications.

All perspectives are valuable. This is a wonderful chance to ensure that future generations of people affected by aniridia have access to the most helpful, accurate, and accessible information possible. Your lived experience and insights can help shape a resource that will benefit countless individuals and families.

RNIB is Patient Information Forum (PIF) accredited, which means they’re committed to the highest standards of health information. Part of this accreditation requires gathering feedback from real users – people like us who live with aniridia or support someone who does.

Get in touch

If you have any questions about this opportunity or want to know more contact us. We’re here to facilitate this important collaboration between the aniridia community and RNIB.

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WAGR Weekend 2025

Posted on Aug 9, 2025 by Aniridia Network

Several of our members affected by WAGR enjoyed meeting in Sussex recently Parents Aaron and Michelle brilliantly organised the 2-day event with International WAGR Syndrome Association (IWSA). Aniridia Network trustee James went along to speak with people and fly our flag. Nearly everyone with WAGR has aniridia.

Delegates came to Arundel from around the world for a barbeque on Friday night. Then Saturday began with a group photograph.

The conference kicked off with a welcome from John Morris IWSA Board Chair.

John presenting in front of IWSA logo

Next Linda, Shari and Kelly gave great progress updates on the internationalisation, research, engagement and overall state of IWSA. It was wonderful to hear of such dedication quality and amount of work being done.

Linda presenting in front of a projection screen
Shari presenting in front of a projection screen
Kelly presenting in front of a projection screen

The first guest speaker was Professor Mariya Moosajee from Moorfield Eye Hospital. She detailed causes, impacts and ways of dealing with aniridia.

Lastly Professor Ngozi Oluonye gave a presentation about behavioural challenges for children with WAGR with insights from seeing patients at her clinics at Moorfields and Great Ormond Street Hospitals.

The weekend was a big success. Everyone had a great time. A massive well done and thank you to all the volunteers and donors who made it possible.

The next event in the calendar is WAGR Awareness Day on 13 November. What would you like to see happen in the UK to mark it?

WAGR Awareness Day November 13. Celebrate our heroes. Support us! On November 13th help to promote awareness, stimulate research and support families affected by WAGR syndrome. WAGR.org/donate IWSA
Mariya presenting
Ngozi presenting

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New Medical Advisors

Posted on Jul 17, 2025 by Aniridia Network

We have appointed two distinguished medical experts to continue our support for the aniridia community. Mr John Brookes and Professor Mariya Moosajee are now our medical advisors, ready to respond to enquiries from our members and their families.

Both are consultant ophthalmic surgeons, experienced at treating adults and children with aniridia. They work at Moorfields Eye Hospital that many with aniridia in the UK attend. Their clinical experience at one of the world’s leading eye hospitals, ensures our community will get guidance from the forefront of rare eye disease care.

John Brookes

Mr John Brookes

He brings extensive knowledge of eye surgery and the challenges faced by people with aniridia. He first volunteered with us in 2021 providing online patient consultations as part of our hosting of the European Aniridia Conference. His expertise was invaluable to those who spoke with him.

Professor Mariya Moosajee

Dr Mariya Moosajee

She is a doctor whose research and clinical work has significantly advanced the understanding and treatment of inherited rare eye conditions, including aniridia. Being both a clinician and a researcher, she brings knowledge of cutting-edge current and emerging treatments.

She has been a valued partner for several years. She and her team have presented their findings at several events, to much appreciation. Their studies have grown our understanding of the natural history of aniridia and the effect of genetics on symptoms.

Plus she volunteered to provide weekly “Ask the expert” sessions during the COVID-19 lockdown, when patients could not go to hospital appointments. These were very well received.

She also pioneered the Gene Vision website as a resource for patients and professionals – a very valuable resource.

Both advisors are committed to providing thoughtful, evidence-based responses to medical enquiries, helping our members navigate their care with confidence and clarity.

Advice for members

Mr Brookes and Professor Moosajee are here to help you, if you have questions about

  • treatment options
  • managing symptoms
  • understanding what the future may hold.

Aniridia Network members can ask questions to us and a range of other doctors by contacting our Medical advice service. Note that they can give really useful general guidance based on the information you provide. However, you should always seek specific advice from your own doctor, based on an examination you and a review of medical notes.

Continuing our specialist support

Mariya has been working with us for many years. John is a more recent addition. We are delighted that they are continuing the excellent service kindly previously provided by now our retired Medical Adviser Melanie Hingorani. Together they have helped many individuals and families better understand aniridia and make informed decisions about their care.

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Skydive total soars to over £960

Posted on Jun 3, 2025 by Aniridia Network
Oliver in a black jump suit strapped under an instructor falling through mid air above the clouds arms outstretched, looking at the camera

Oliver, who has aniridia, celebrated his 18th birthday by leaping out of a plane to raise money for Aniridia Network.

To mark becoming adult, Oliver took the skies for a tandem parachute jump. He got friends and family to sponsor him. They donated generously. With Gift Aid added it should be over £1,000. Oliver said afterwards:

It went quite well. I was freaking out a bit when I was on the ground and when I was about to jump. Apart from that, I really enjoyed it and I have decided I am definitely doing it again.

We wish you many happy returns to earth Oliver!

Oliver worn sunglasses under goggles for the jump. He said that normally when on the ground:

I struggle with bright light and have to wear sunglasses and a hat most of the time to help protect my eyes.

A massive well done and thank you to Oliver plus everyone who sponsored him.

The donations will go towards our events, our conferences and grants for research into aniridia. The aim is to help people like Oliver and his family be confident, hopeful and well informed about aniridia.

What can you do to support Aniridia Network? Think what you can do to fundraise or volunteer for our charity to help young people with aniridia and others.

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Apply for our 2nd grant for UK aniridia research

Posted on Jun 3, 2025 by Aniridia Network

We are delighted to be making £15,000 available for research into congenital aniridia. Apply now.

Aniridia Network is collaborating with the charity Fight for Sight to fund a small grant.

It is part of Fight for Sight’s Small Grant scheme. It is designed to enable collection of preliminary or pilot data, that will make developing larger, follow-on funding applications more competitive.

We are jointly funding one of these awards, focused on research addressing sight loss associated with aniridia. The money is to be used over a duration of 12 months.

Aniridia Network and Fight for Sight are each contributing £7,500 provided by kind donors and sponsors in recent years.

The applications process and grant management will be handled by Fight For Sight. Aniridia Network trustees will input to the choice of which proposal will receive the money.

Get all the details and apply 16 July 2025

Aniridia Network Trustee Katie said

“This is only the second time we have offered a grant. We are excited to be growing the understanding of scientists and patients. It is only possible thanks to the amazing efforts of fundraiser and generosity of donors. We are looking forward to reading the proposals.”

Please share this opportunity with any eye doctors and researchers you know so we can get the best ideas submitted.

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