People with aniridia are needed for a research study about worsening sight, whether you have dealt with it or may do in future.

Aniridia usually results in low vision from birth. At some point conditions such as cataracts, glaucoma or cornea disease often obscures vision more. This research will explore your thoughts about the occurrence or prospect of this and how having sporadic or familial aniridia affects your mindset.

The study is being done Helen Campbell, a masters student from the Cardiff University Centre of Medical Education, with the support of Aniridia Network. We are all keen to learn about your understanding, feelings and what can be done to help.

To take part in the research contact Helen Campbell at campbellhl@cardiff.ac.uk.

More details are below. The video is of Helen talking about the study at the Aniridia Network Conference 2023, where she answered questions from the attendees (transcript below).

Participants needed for research exploring the psychosocial impact of deteriorating vision for those with familial and sporadic aniridia.

We are looking for adults (aged 18+) who are affected by aniridia to take part in a research study that aims to explore the experiences of those with sporadic and familial aniridia and deteriorating vision in adulthood.

This research will help to shed light on how people experience aniridia depending on their experiences of life, family and their vision. This will help to plug a significant research gap, and will help Aniridia Network to understand more about how they can best help and support their members.

Participation will involve an interview with a researcher for approximately one hour via Zoom or telephone call.

For more information about the study, you can read a copy of the participant information sheet and consent form in the following formats:

• Participant Information Sheet: PDF / Word Doc / YouTube video
• Consent Form: Online / PDF / Word Doc / YouTube video

If you would like to ask any questions about this research or would like to volunteer to take part, please contact Helen Campbell at campbellhl@cardiff.ac.uk.

This project is part of a dissertation that will be submitted in partial fulfilment of the requirements for the MSc in Genetic and Genomic Counselling, Cardiff University, and is supervised by Professor Marion McAllister. This study has been reviewed by and received a favourable ethical opinion from Cardiff University School of Medicine’s Research Ethics Committee

Transcript of Conference presentation video

[James] I’m especially delighted to start today off by celebrating the partnership that we’ve been building with Cardiff University.  A couple of their genetic counselling students have been doing a placement with us, as it were, for their dissertation.  And the first of those is Helen Campbell, and she’s  going to tell us the research that she’s doing and  how she’d like you to take part in it during today and the coming year. So please welcome Helen. 

[Applause] 

[Helen] Hi, everyone.  Hello, can you hear me ok?  Yes.  So yeah, it’s lovely to meet you all. Really nice to be here.  I’ve been looking forward to the conference for a while.  So yeah, hopefully it’ll be a really good day. 

As James said, I’m going to be talking a bit about a research project  that I’m going to be doing over the next year about aniridia and the experiences  of those with aniridia, and hopefully by the time I’ve finished talking, some of you  might be interested in getting involved. So please do let me know if you would like to.  So just an outline of what I’m going to talk about today. So first I’m going to say  a bit about me, then I’m going to talk about the research topic and the aims of the study,  then I’m going to talk about current evidence and why the study is needed, what the research  will involve, and then we’ll finish up with a discussion and open the floor to any questions as well. 

So I’m Helen and as James said I am an MSc student at Cardiff University,  and I’m in my third year doing a course in genetic and genomic counselling.  So I’m doing that approximately two days a week. About three days a week I have recently  started as an eye care liaison officer in Chester, or an ECLO. I’m sure many of you are familiar with  what an ECLO does, but it’s essentially being in an eye clinic and helping people with  emotional support, referrals to practical and information support and that thing,  for people who’ve recently received an eye diagnosis. And a big part of the role is also  helping people with the process of registering a certificate of visual impairment as well.  So, as I say, I recently started that, but previous to that I’ve had about an eight-year career  in research and impact measurement in charities. 

So I’m going to talk about the research topic now. And the reason I’m up here today is because  about 18 months ago I got in touch with Katie, one of the Aniridia Network trustees, to talk  to her about doing some research with the Aniridia Network.  She said that one of the areas of interest for the trustees was to look at the varied  experiences of those with sporadic aniridia – aniridia that arises for the first time in  an individual – and those with familial aniridia, so those for whom a family member already  has aniridia. And they were interested to look at the experiences of those two groups  of people and see whether there was any differences in their experience, and the psychosocial impacts  of the condition and how it plays out for them. And another area of interest was looking  at the impact of people experiencing further sight loss in adulthood. And these areas seemed  really important to look into and also very aligned with my research interests.  So together we came up with a research question, which is what I will be looking at over the  next few months.

So I’m going to read out the specific question now and then I’ll  break it down a bit, because as with lots of academic things, it’s a little bit wordy.  I’m personally contesting with that on a day-to-day basis.  So the question itself is:  Comparing the psychosocial impact of further sight loss in adulthood  between people with sporadic and familial cases of aniridia. 

So firstly, comparing the psychosocial impact.  Psychosocial relates to basically anything to do with emotions, quality of life,  experiences, employment, relationships, social life.  So it’s really things that aren’t to do with the clinical experience of someone’s eye condition.  So that’s quite broad really.  Further sight loss in adulthood, so specifically looking at the experiences of those who’ve  already had some degree of sight loss, or were born with some degree of sight loss.  And then again between people with sporadic and familial cases of aniridia,  and really trying to tease out any similarities that might exist, any differences and looking at those things. 

So, leading on from that question, there are four distinctive aims of the research,  which are –

• to explore the psychosocial impact of further vision loss and the anticipation of this  in adulthood for people with aniridia,
• how having a family member with aniridia or not contributes to participants’ experiences of aniridia,
• the role of family relationships in shaping identity,
• and finally what, if any, differences in support needs exist for people  with familial and sporadic aniridia.

So I thought it might be useful to maybe talk a little bit  about what we know so far, in terms of published evidence on this question. So I’m going to go  through a few slides about what we know at the moment about this area. There’s a bit of a caveat here,  which is that these are some initial impressions of the literature. I’m going to be  doing a much more thorough literature review as part of my dissertation. But yeah just some  initial findings really when you have a look at this question.

So firstly thinking about research  into the psychosocial impact of sight loss, there’s a substantial amount of evidence out there about  this at the moment. Most of it relates to age-related sight loss conditions like age-related macular degeneration, but there are some studies that show that there are some impacts on self-esteem,  emotions like anger or anxiety, and some depressive symptoms as well, and also thinking about  social isolation. So that broadly could be useful research, but as I said it’s mostly  to do with age-related sight loss conditions. So there are quite a lot of what we call confounding  factors there So many of these impacts might be more related to experiencing older age  and becoming more isolated or other aspects of that, rather than the sight loss itself.  So helpful, but there are some limitations within this evidence. 

Next, what’s out there at the moment in terms of the psychosocial impact of aniridia?  So there’s very little published evidence out there at the moment,  except there are some case studies in a book by Nerby and Otis,  the “Aniridia and WAGR Syndrome, a Guide for Patients and Families” book,  which takes the US perspective into aniridia and WAGR syndrome.  And there’s a chapter in that book which has 19 autobiographical case studies  from people with aniridia, who are talking about various aspects of their lives and their experiences.  And again, it’s really good at bringing insights from those people and providing a really deeply personal reflection about their experience.  But in terms of applying it to my research, there’s some limitations with it, relying on an experience from the USA.  And it’s looking at aniridia as a whole, rather than zooming in on the impact of further sight loss.  So yeah, useful but again some limitations to applying on it.  There are also some studies that have been done by Galina Gening.  I’m not sure about the pronunciation of that.  But she has done some questionnaires looking at the psychosocial impact of aniridia,  which have found that again there are some emotions around anxiety and frustration, self-doubt that can be reported in those with aniridia.  But because they were very structured, multiple choice questionnaires,  there wasn’t a huge amount of opportunity to go fully fleshed into the deeper emotional experience behind these.  So a broader remit than this study, but there are some useful themes that are identified. 

Apart from that, it’s quite difficult to find any other research that specifically looks at aniridia,  although there is some information out there about overall psychosocial impact of genetic eye conditions.  So there are a lot of studies that look at other genetic eye conditions such as albinism,  Usher syndrome or retinitis pigmentosa. And a review from 2020 summarised some of the  findings from these studies essentially, and summarised them into a number of different  areas and themes. So again very useful research, but there is limited application to my  research question, because a lot of these conditions also have an impact on  other areas of life, such as dual sensory loss or altered pigmentation of the skin.  So there are some complexities in trying to generalise findings from  those studies to the experiences of those with aniridia. 

And then finally, looking at the evidence that compare studies between the experiences of those  with sporadic aniridia and familial aniridia, I’ve struggled to identify any  studies which really look specifically at this. And as you can imagine, it could  potentially be a very interesting area for any genetic condition really.  So yeah, there’s a fair amount of gaps in published research that highlight this  question or help me to answer it at the moment. 

So going on to what the research will be used for,  the really big one here is to help inform how  Aniridia Network can best support its members, to see whether there are  different support needs or what they can do to provide that further support if necessary or not. 

And it’s also going to be useful to give a greater insight into  the experiences of different groups of people with aniridia and inform  provision of support by clinical genetic services as well.  As I’m studying to be a genetic counsellor, that’s one thing that’s really at the forefront of a lot  of genetic counsellors’ minds about how we can best do referrals or provide support to people in that sense. 

So I talked a lot about the question and what it’s  going to be used for, but what’s it actually going to involve?  Essentially it’s going to be a recorded interview, either online through Zoom or similar, or through the  telephone with me for up to one hour. And I’ll be recording that and then I’ll be going away and  transcribing it and pulling out different themes from that and writing up the research from there. 

So it’ll be about one hour of your time. In advance of that you’ll have to read the  participant information sheet and sign the consent form, which is going to be an accessible online form,  or I could do it over the phone as well if that’s preferable. And the interview itself  is going to be completely anonymised for the purpose of the research and confidential, and  the data will all be dealt with in a very compliant way, which will all be detailed on  the participant information sheet. But let me know if you’d like any more information on that. 

And if anyone is interested then I’d really like to have a chat today, essentially.  So I’ll be here all day, so please come up and have a chat with me. And yeah, we’re still  finalising everything with the recruitment process. So yeah, to sum up, we’re really trying to get a deeper understanding of the experiences of  those with aniridia out there and known a bit more. 

One of the outputs of the research is obviously my dissertation, I’ll also be writing a blog  and a more executive summary for the Aniridia Network website, and I’ll hopefully be trying  to publish the research at some point as well.  So making this so experiences of those with aniridia more out there to the wider world.  And yeah, if you’d like to help me do this, please let me know and I can take your details. 

So, does anyone have any questions?  Or I thought it also might be interesting to get people’s thoughts about experiences  of those with familial and sporadic forms of aniridia.  But yeah, maybe we should go with questions first!  Yeah. 

[Woman] Would you say there’s a gap then in research in general, as compared to other conditions, for aniridia?  Would you say that there’s a definite research gap? 

[Helen] Yeah, definitely. The review that I mentioned, it’s from 2020, and they did a literature  search on basically a whole wide range of genetic eye conditions and then they  summarised all of the results from all of that research. And they couldn’t find one study  to include on aniridia. So most of them were the conditions that I named like retinitis pigmentosa,  Leber hereditary optic neuropathy, Usher syndrome and albinism as well.  There are a few other ones in there, but they couldn’t find any published studies to do with aniridia.  So there’s definitely a gap there. What was that? Sorry.

[Man] I said it’s quite a surprise.

[Helen] Yeah. 

[Man] So I think again my follow-on question there would be how do we promote studies then?  How do you think the next steps in terms of how do we get that started? 

[Helen] Yeah, well, I think the partnership that the Aniridia network’s been building with Cardiff is  really, really useful for that. We’ll hear from Emily later about the research that she’s done,  so it’s a great opportunity for me as an MSc student and for the Aniridia Network  to promote it. I think in terms of next steps after today, if there’s anyone else in the  network that you think would be interested, or they don’t have to be a member of the  Aniridia Network either, I believe there’ll be an email going out generally to members  and some information on the website as well. So please let people know if you think they’d  be interested. Thanks. Yeah? 

[Woman] Me? Okay. Sorry, there’s a bit of a family thing going on here. [Audience laughs]  No, but, just from an observational point of view, working within RNIB services and with friends and family and people  that I know myself, there is definitely a difference in how people with parents or relatives  with aniridia support each other, to the reactions that, you know, sometimes I’ll see things  on Facebook, on the groups, and the reactions and the way… you know…  if parents have a child with aniridia for the first time, the way they react to that is different  to how, you know… my mum and dad… my dad had aniridia, my children have aniridia,  and I’ve had myself too, so we’re not fazed by it.  And yes, it’s an unusual condition, but we’ve learned strategies to get over some of  the difficulties. So there is a difference in that experience. So I think  it’d be really interesting to look into that further.  [Helen] Yeah, yeah, definitely. Yeah, I think it’s hard to speculate, isn’t it?  But I definitely think there’ll be some themes around that and familiarity with  services and clinics, and some of the language and things may well play a role. 

[Woman] It’s a postcode lottery also, I think, it depends on what your doctors are like and how familiar they are with your condition too. 

[Helen] Yes, yeah, and navigating all of that, having a heads up on it may well change that, both potentially positively and negatively.  But yeah, that’s good to get your insight, thanks.  Yes, the lady in the middle. 

[Woman] I’ve actually done your survey. I did an interview with you, about me, possibly,  but I just wanted to concur with the lady over here that people like myself from families, there’s  four generations and five of us in my family, all with aniridia, my mum being sporadic to the way  that she was brought up, albeit that some of it was because of medical ignorance, if you like.  And people didn’t know how to deal with it. But her experiences were totally different to  our experiences as second, third and fourth generations.  Thank you, yeah, that’s really interesting, and I think it’s those sorts of insights that will really  help Aniridia Network to think about what do we need to put in place for maybe people  with sporadic aniridia, to help with that familial knowledge and the absence of someone  already in the family.  But yeah, that’s interesting that those two themes are already emerging a bit. 

[James] Anything else? Ok, thank you very much Helen… oh, sorry… 

[Man] I just want to speak to somebody that doesn’t have aniridia. But I’m married, my wife’s  got aniridia and my two children have aniridia, but it’s still a shock, because  some people don’t have it, they don’t get it at all,  their children are perfect.  But I’ve noticed my children’s children  seem to have aniridia but have underlying problems as well. It just seems to be getting worse  rather than getting better as the generations goes on. I just wondered if you could research anything into that.  Because you’ve got two and then all of a sudden you’ve got nine.  It’s hard to get your head around why some don’t have it  and you end up all the children have it.  And I’ve got good eyesight, I can’t figure it out,  I’d like some research I can look into, to say why is this happening,  or is it just me that’s cursed, you know? 

[Helen] Right.

[She and man laugh] 

[Man] I don’t mean cursed for people that’s got aniridia, I don’t mean it like that.  I mean, how does that happen, the odds, you know? 

[Helen] Yeah, yes, yeah.  I think those sorts of questions around the probability of this stuff arising in people and things,  genetic counselling is really the way that the healthcare… So I don’t know if you’ve  ever encountered a genetic counsellor.  Many genetic services take self-referrals, and their job is essentially to sit down with  the family and talk through, from a genetic perspective, what’s happening and what the probabilities are.  And for a lot of people it is just really helpful working their way back to understand  all of that stuff. Because, yeah, you do end up with families where everyone’s got it or where  a few people have it. So a genetic counsellor would be good. I’m studying to be one,  so I don’t want to give you too many conclusive thoughts on that, but yeah,  a qualified one would definitely be able to help with that. 

[James] It’s sort of the topic of Vivienne Kit’s talk a bit later, is around that sort of stuff,  as to what how does the genetics actually influence the symptoms. So, yeah, we’ll cover some of that.  Cool, we need to move on, but please do come and talk to Helen throughout the day and sign up to take part in this research, that’s really good. Thank you Helen! 

[Helen] Thank you. Thanks James.

[Applause]

Thank you to Glen for the video editing and write-up.