Euro Aniridia Conference 2024 | Day 2: #17. Cohort data from 319 aniridia subjects - Prof. Szentmáry скачать в хорошем качестве

Euro Aniridia Conference 2024 | Day 2: #17. Cohort data from 319 aniridia subjects - Prof. Szentmáry

This is the session dedicated to the management of aniridia and challenges for children hosted during the European Aniridia Conference 2024 held in Stockholm from May 31st to June 2nd. Speaker: Prof. Nóra Szentmáry, MD, Saarland university medical center, Germany Biopic: Professor Nóra Szentmáry studied medicine, became an ophthalmologist and received her PhD title at Semmelweis University, Budapest, Hungary. Between 2008–2010, she worked at the Friedrich Alexander University and at Saarland University, Germany, with support of a Humboldt Scholarship. In 2012, she habilitated at the Medical Faculty of Saarland University. She is working as head of the Dr Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research at Saarland University since 2020. She was Head of the Cornea and Ocular Surface Section of the European Association for Vision and Eye Research (EVER) between 2017–2022, and EVER president in 2022–2023. Title of presentation Cohort Data from 319 Subjects with Congenital Aniridia at the Schwiete Center Abstract of presentation Anirida is a rare disease, with a global prevalence of 1 in 40,000 to 1 in 100,000. There are PAX6 gene-associated and other forms. PAX6 is a master control gene for ocular development in early embryogenesis (weeks 6 to 12). Therefore, PAX6 haploinsufficiency-associated aniridia syndrome affects almost all eye structures, and between those limbal stem cells, resulting in aniridia asssociated keratopathy (AAK). We summarize recent clinical data of the Homburg Aniridia Center, the effect of glaucoma treatment and lens status on AAK, central corneal microstructure, structure of corneal nerves and corneal endothelial cell properties in congenital aniridia. www.aniridiaconference.org | www.aniridia.eu