Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families
Through targeted next-generation sequencing, this research identified two novel and two recurring PAX6 mutations and showed macular foveal hypoplasia as a consistent clinical phenotype in the Chinese #Aniridia patient population.
Read more: doi.org/10.1007/s115...
Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families
Researchers identified two novel #PAX6 mutations in Chinese #Aniridia families, expanding the genotypic and phenotypic spectrum and detailing the clinical traits of PAX6 haplotype deficiency. #medsky
Read more: link.springer.com/article/10.1...
Our free online #aniridia conference is on at 1pm Saturday, 1 November UK time.
Don't miss the talks, chance to ask questions, AGM and conversation afterwards
Get details at aniridia.org.uk/conference/
AFTER PARTY: Stick around after our conference this Saturday afternoon for informal chat with patients and parents affected by #aniridia.
The event starts at 1pm Saturday 1 November.
Get details at aniridia.org.uk/conference/ #ANUKconf
Andy Baghurst presenting at lecturn in front of Aniridia Network banner
AGM: Our annual general meeting is this weekend.
Come to hear the charity's annual report and quiz its leaders.
Trustee election online voting deadline is Friday.
Conference starts: 1pm Saturday 1 November.
Sign up at aniridia.org.uk/conference/ #aniridia #ANUKconf
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
کاشت عنبیه مصنوعی در بیمارستان نور برای بیمار مبتلا به آنیریدیا
عنبیه مصنوعی یک پروتز نازک، انعطاف پذیر، غیر سمی و سازگار با بافت بدن بوده و از موادی تهیه شده است که در ساخت لنزهای داخل چشمی به کار می روند و سالهاست داخل چشم بیماران استفاده می شود
#دریچه_احمد #aniridia
youtube.com/shorts/FzwPJ...
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
Además, 👁️💙 el 21 de junio se celebró el Día Internacional de la Aniridia. Una enfermedad rara que afecta el desarrollo del iris y la visión.🔬 La investigación es clave para mejorar el diagnóstico, tratamiento y calidad de vida.
#Aniridia #EnfermedadesRaras @csic.es
Más info 👇
aniridia.es
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...
Haven't posted in a while so imma talk about the funny thing that happened to me when I have #Aniridia (No irises in my eyes)
So basically, me and some work colleagues were playing: Guess how many hands the person behind you is holding up.
Mi pareja ha tenido que sufrir discriminación en el transporte público de camino a su trabajo, debido a que lleva gafas de sol por la fotofobia que conlleva su discapacidad visual, solo porque a una mujer le molestaba verlo así. Es vergonzoso. #Aniridia #BajaVision #DiscapacidadVisual #Inclusión
Lo más bonito de tener una relación entre personas con discapacidad es el apoyo y los aprendizajes que tenemos mutuamente. 👩🏻🦰🌈🩷👨🏻🧑🏻🦯 #Autismo #TEA #CEA #Asperger #Neurodivergencia #Aniridia #BajaVision #DiscapacidadVisual #Amor #Aprendizaje
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...
People with #aniridia are very sensitive to light, including sunshine.
So we don't typically like bright blue sky!
Overcast is a poor Xperience too though; being glarey in all directions and in terms of shade.
Let's see how we get on here!
Learn more & join our UK community aniridia.org.uk
