@aniridianetuk.bsky.social
UK charity (1176792) for people affected by #aniridia, a rare genetic eye condition meaning absence of the iris. Symptoms include poor sight or blindness, sensitivity to light and several other effects.
Emily Nash
"Train station maps for visually impaired people" - an online lightning talk by Emily Nash, a person with aniridia studying at @CovUni, is part of our Conference & AGM grom: 1pm 1 November.
Details and sign up at aniridia.org.uk/conference/ #aniridia #ANUKconf
Calvin Chan
WEBINAR: "Exploring PAX6 related gene regulatory networks & its role in the developing brain" by Samuel Heczko & Dr Calvin Chan, @EdinburghUniversity
Part of our Conference & AGM from: 1pm Saturday 1 November.
Book a spot and time in your diary at aniridia.org.uk/conference/ #aniridia #ANUKconf
Elliott Lee, a person with blue hair, glasses and a rainblow bag, standing behind a polling station sign.
WEBINAR: "Privilege, Protest. Power" by Elliott Lee, a 25-year-old with aniridia.
Part of our conference from: 1pm Saturday 1 November.
Sign up to take part at aniridia.org.uk/conference/ #aniridia #ANUKconf
John Brookes, man wearing glasses and suit
Q&A about aniridia, particularly together with glaucoma, with Mr John Brookes, @Moorfields Eye Hospital.
From: 1pm Saturday 1 November. Register for a place and to submit your queries at aniridia.org.uk/conference/ #aniridia #ANUKconf
Mariya Moosajee
TALK: "How PAX6 gene deficiency affects your body" by consultant ophthalmologist in genetic eye disease, Professor Mariya Moosajee @mariyamoosajee, Moorfields Eye Hospital @Moorfields & @UCLeye.
From: 1pm 1 November aniridia.org.uk/conference/ #aniridia #ANUKconf
Aniridia Conference & AGM: online, Saturday 1 November 2025.
A great mix of patient and professional speakers
Get details and book your place now at aniridia.org.uk/conference/
Your opinions are needed on the new aniridia factsheet by
@rnib.bsky.social
Help us make it better for people seeking information in future by responding to our questionnaire.
Meet Tierney, our Volunteer of Year, for wrangling speakers and hosting so well at our online Conference 2024.
(Have you signed up for the 2025 event yet?)
International WAGR Syndrome Association (IWSA) held #WAGRweekend in the UK. We went along to speak with people and fly our flag. Nearly everyone with WAGR has aniridia. It was a wonderful event with lots of families enjoying coming together.
07.09.2025 22:10 — 👍 0 🔁 0 💬 0 📌 0Details of what our officials, members and supporters have been up to and our finances are in our Annual Report 2024/25.
Thanks to great efforts by everyone who involved with these achievements.
Artwork made up of black lines and coloured shapes. At its centre is a white background set of concentric ovals, and a black circle resembling an eye with aniridia
At the @EngineRoomTottenhamHale community centre/church there’s an artwork by @GraemeEvelyn where the centre is reminiscent of an eye with the rare visual impairment aniridia.
Its a contemporary, hand carved, painted relief sculpture 5x3 metres.
More details at graemeevelyn.com/new-major-pr...
A big thank you to Lyn for raising £150 for our charity by opening her beautiful garden to visitors for a day.
20.08.2025 08:29 — 👍 0 🔁 0 💬 0 📌 0The Aniridia Network AGM will be held online on the afternoon of 1 November 2025 as part of our annual conference.
We're looking forward to seeing you there.
Your opinions are needed on the new aniridia factsheet by @RNIB. Help make it better for people seeking information in future
17.08.2025 16:37 — 👍 0 🔁 0 💬 0 📌 0Glen and his mum have aniridia and live together.
This is the 1st or 3 deeply touching posts about the impact on both of them of her further sight loss and declining mental health.
It's not an isolated case as it is based on official guidance about 'Fabricated or Induced Illness' #FII: bilson.org.uk/home/fii_ope...
#FII
Truly terrifying to hear the experience of members of our UK community. Elly, mum to Ella who has WAGR, was separated from her daughter for months and had to fight to clear her name of allegations.
podcasts.apple.com/ng/podcast/w...
Our hearts go out to Elly, James, Ella and everyone else involved.
Aniridia Network members can ask questions to us and a range of doctors by contacting our Medical advice service. We are delighted that our main experts are now Mariya Moosajee and John Brookes.
17.07.2025 10:09 — 👍 0 🔁 0 💬 0 📌 0On behalf of all her visually impaired patients, many with aniridia, we thank Melanie for her years of dedication and service. We wish her very well.
13.07.2025 21:59 — 👍 0 🔁 0 💬 0 📌 0
UK doctors and scientists interested in #aniridia. We have a #grant for you cofunded with @fightforsight.bsky.social.
Application deadline 16 July 2025.
aniridia.org.uk/2025/06/03/a...
Please share.
#MedicalResearchFunding #ResearchGrants #RareDiseaseResearch #SightLossResearch #PAX6
Map to USA with blue pins mostly on the east coast
To mark Aniridia Day, Vision For Tomorrow Foundation in the USA have launched an amazing map of doctors in America who experience with aniridia that people there can contribute to.
visionfortomorrow.org/aniridia-car...
visionfortomorrow.org/aniri…
Want this in the UK+Ireland? Who'd you recommend?
Open Access UCL Research: Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids discovery.ucl.ac.uk/id/eprint/10...
10.06.2025 11:41 — 👍 1 🔁 1 💬 0 📌 0
Research Participants Needed Do you want to help guide the development of online station maps? We are looking for participants with sight loss to undertake user testing of current online maps of stations from around the UK. You would be required to take part in a one-to-one recorded teams call approximately 90 minutes long via a personal computer. You will need to be able to view map layouts with the help of your assistive technology but no previous knowledge of the maps is expected. Emily Nash is conducting research, as part of her PhD at Coventry University in partnership with Motability Foundation UK. To find out more and use your experience to help shape the future please contact Emily at nashe5@uni.coventry.ac.uk Logo ncate National Centre for Accessible Transport
Guide the development of online station maps for people with sight loss!
A member is seeking VI testers of examples from around the UK.
You'll need to have a 90 minute recorded Teams call and view maps with your assistive technology.
For details contact Emily: nashe5@uni.coventry.ac.uk
Our conference will be online this year because we do not have a volunteer to organise it. 🙋
We know how much you value gathering in person so this is a shame. 😞
If there are skills you have or would like to grow, that could make our activities happen, get in touch. 📲
aniridia.org.uk/volunteering
At least despite aniridia you could still see the the number of fingers being held up behind them!
04.06.2025 20:27 — 👍 1 🔁 0 💬 0 📌 0Aniridia from PAX6 can also associated with auditory processing disorder
04.06.2025 20:24 — 👍 0 🔁 0 💬 0 📌 0Ophthopedia Update: Long-term outcomes of aqueous shunt surgery in glaucoma secondary to congenital aniridia: Publication date: Available online 23 March 2025
Source: AJO International
Author(s): Jeremy C.K. Tan, Abdus Samad Ansari, Nicholas G. Strouthidis, John… #Ophthalmology #AJOInternational
If you or your child have aniridia and are in the UK, become one of our members at aniridia.org.uk/membership/
04.06.2025 20:21 — 👍 0 🔁 0 💬 0 📌 0
Picture from the OR with the eye iris in clear view.
Meanwhile in science: in Turin 2 siblings affected by congenital Aniridia got their problems fixed through a 3-in-1 surgery. Bonus: they got to choose the their eye color!
09.03.2025 11:07 — 👍 3 🔁 1 💬 1 📌 0
Well done Dr Pippa Harding, my PhD student @ucleye.bsky.social who grew eye cups from a patient with a missense variant in the #PAX6 paired domain causing #microphthalmia & a typical #aniridia patient. SOX2 and Notch pathways were dysregulated. Disease insights: www.sciencedirect.com/science/arti...
22.05.2025 16:06 — 👍 2 🔁 2 💬 0 📌 0
