18 Apr 2021 A Symposium on current and evolving knowledge of the genetics, clinical and molecular aspects of aniridia.
The Deutsche Ophthalmologische Gesellschaft Annual Congress, held entirely online on october 2020, included an aniridia-focused symposium titled:”Congenital Aniridia: new clinical, genetic and molecular insights from patient cohorts in 5 European countries”. Chaired by Nóra Szentmáry (from the University Saarland) and Neil Lagali (from the University of Linkoping), this symposium provided an update of our current and evolving knowledge of the genetic, clinical, micro-morphological, and molecular aspects of AAK. Opening the session, Barbara Käsmann-Kellner (from the University of Saarland) provided a comprehensive explanation of the broad phenotypic spectrum of PAX6 mutations. Continuing with the symposium, Maria Notara (from the University of Cologne), sets forth the specifics of limbal stem cell deficiency in aniridia patients, followed by an exposition of recent translational findings from ocular surface samples by Lorenz Latta (from the University of Saarland). Closing the session, Neil Lagali and Dominique Bremond-Gignac (from the University-Hospital Necker Enfants-malades) bring AKK to discussion drawing upon recent clinical studies in adults and pediatric patients from large aniridia cohorts across Europe.