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

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.

Details 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.

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.

The 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

Glen 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.

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.

On 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.

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

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...

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: [email protected]

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

Aniridia from PAX6 can also associated with auditory processing disorder

Ophthopedia 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/

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!

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...

A massive well done and happy birthday to Oliver plus thank you to everyone who sponsored him, raising money for our chairty. Watch the video.

A big well done and thank you for the amazing feet of Mollie, Craig and Katiie

Let's get in on the meme of using AI to generated action figure representative of us. What do you think?

Oliver is jumping in aid of Aniridia Network. Very brave. Please sponsor him www.justgiving.com/page/oliver-...

We've been scouting venues for our next conference. Where would you like us to hold our events? What kind of speakers would you want to hear from? Hhow aout you?! What's your story that you could tell?

We enjoyed the rare pleasure of spending time with fellow aniridics for #RareDiseaseDay 2025

Miriam who had aniridia, gave all during her life. At her funeral mourners kindly gave to our charity. Thank you.

Please sponsor those walking 14 miles for Callum and everyone with aniridia

Check out Lacey's wonderful natural style when talking about being visually impaired.

Tonight for Aniridia Network members in the UK. Looking forward to the chat

Hear Eloise talk on a podcast about her struggles and experiences growing up with the #rareDisease aniridia making sensitive to brightness, in sunny Gibraltar. Marking #RareDiseaseDay

Happy #RareDiseaseDay! We are joining Genetic Alliance UK and their 200+ members to join forces to call on the Government to support people with rare conditions with a new UK-wide government strategy on rare conditions. Add your voice to ours by sharing: buff.ly/4h2uiwM

Aniridia is a rare eye condition where the iris is missing or underdeveloped. We catch up with ANIRIDIA-NET, a recently ended COST Action dedicated to raising awareness & promoting innovative research to improve lives & vision of those affected: bit.ly/3Eft3ws #COSTactions #ScienceWithoutBorders

ICYMI: FRESH OFF THE PRESS: Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy: Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the… #Cornea #Ophthalmology #Research

At CamRARE’s Companies Forum, we unite: 🔹 Biopharma 🔹 Healthcare & research 🔹 Patient groups Last meeting, we introduced the Rare Disease Research Network—co-created with patients to connect with experts to drive projects forward. Want to get involved? Let’s talk! #RareDiseaseDay #RareDisease

It is #RareDiseaseDay: about raising awareness and generating change for the 3.5 million people living with a rare condition in the UK, their families & carers. Help raise awareness, amplify the voices of the rare community. Share your experience of living with a rare condition such aniridia!

#RareDiseaseDay 28 February is almost here! Genetic Alliance UK will be sharing #MoreThanYouCanImagine: an anthology of rare experiences’, a collection of creative work that represents a wide range of experiences from the genetic, rare and undiagnosed communities. https://buff.ly/4i4qk7u

Great opportunity for a person with aniridia: No special skills or knowledge are needed – just your curiosity and willingness to share your experiences for science.

Sign up to take part in our online conversation about aniridia on @RareDiseaseDay #RareDiseaseDay. We are looking forward to chatting with you.

Sign up to take part in our online conversation about aniridia on @RareDiseaseDay #RareDiseaseDay. We are looking forward to chatting with you.

Come for a celebratory coffee and chat with us to mark @RareDiseaseDay #RareDiseaseDay

Question from a recent online quiz: "A ring shaped muscle in your iris decides how much light to let into your eye. That's called the pupillary WHAT?"

Here we have another presentation from this year's #ANUKConf, as Vivienne Kit discusses her research into retinal detachments amongst aniridia patients: aniridia.org.uk/2024/11/19/r...

New to @bsky.app? We’ve got some etiquette just for you! Turn on the little feature that reminds you to post alt text with your images. Alt text allows blind and partially sighted people to understand what's in your images using screen readers. Without alt text, it just says "image".

The first talk at our #ANUKConf this year was given by Gayle Johnson, a Qualified Teacher for #VisionImpairment (QTVI) at Dorset Council. She discussed her work supporting children with #aniridia, including referrals, vision assessments and more. Video & transcript: aniridia.org.uk/2024/10/11/s...