ERN-EYE Webinar – X-linked retinoschisis
Date and time
Friday 30 October, 2.00 pm CET.
Programme
- Clinical Characteristics, Dr Joni Turunen, HUS Helsinki University Hospital, Helsinki, Finland.
- Epidemiology and Genetics, Pr Markus Preising, Universitätsklinikum Gießen und Marburg GmbH, Gießen, Germany.
- Complications of X-linked retinoschisis and their treatment, Pr Camiel Boon, Amsterdam University Medical Center, Netherlands.
- Treatment Options, Pr Isabelle Audo, Hôpital National des 15-20, Paris, France.
- A patient-family perspective, Susanna Åhman, mother of a teenager with X-linked retinoschisis.
- Discussion
Registration
Biographies
Dr Joni Turunen
Pr Markus Preising
PD Dr. rer. medic. Dipl.-Biol. Markus Preising is researcher at the Department of Ophthalmology at Justus-Liebig University Giessen, Germany. He started his career as a doctoral student in genotyping hereditary retinal degenerations at the Department of Human Genetics at the University of Münster, Germany and later established the Molecular Genetics Laboratory of the Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics at the University of Regensburg, Germany. At the University of Regensburg he completed his habilitation on genotype-phenotype correlations in hereditary eye diseases. In 2007 he moved to Giessen where he received the status of an assistant professor in ophthalmogenetics. From his research he developed a comprehensive expertise in genotype-phenotype correlations of inherited retinal degenerations. He is part of the genetics clinic of the Department of Ophthalmology and coordinates the clinical trial center of the department. His scientific and clinical activities support the interface of research, development and patient care in hereditary eye disorders.
Pr Camiel Boon
Camiel Boon, MD, PhD, FEBO, is a Consultant Ophthalmologist and Professor of Ophthalmology at Amsterdam UMC and Leiden UMC in the Netherlands. His clinical expertise includes medical retina, vitreoretinal surgery, and hereditary retinal diseases. He trained as an ophthalmologist at Radboud University Medical Center, where he obtained his PhD cum laude and received several awards. He subsequently completed specialized fellowships and training in medical retina and vitreoretinal surgery in Oxford, New York, and Rotterdam. His research focuses on hereditary retinal diseases, their clinical and genetic characteristics, and innovative treatments including gene therapy. His group is also internationally recognized for pioneering research into central serous chorioretinopathy and age-related macular degeneration, as well as for leading clinical trials and identifying new clinical phenotypes. Prof. Boon has published more than 320 peer-reviewed scientific articles and contributed as editor or co-author to chapters in several ophthalmic atlases.
Pr Isabelle Audo
ISABELLE AUDO, M.D., PH.D., is a clinician scientist, professor in ophthalmology, working both at the Quinze-Vingts Hospital where she oversees one of the National reference center for rare inherited neuroretinal disease RefeRet and pediatric ophthalmology, and at the Institut de la Vision where she acts as deputy director and as a group leader, with Christina Zeitz within the Department of Genetics .As a clinician and a scientist, Prof. Audo has developed a comprehensive expertise on inherited retinal diseases from the clinical and molecular diagnosis, patients’ care to translational and more basic research aiming at a better understanding of the pathogenic mechanisms underlying these disorders. She is also the PI of several clinical research projects and trials.
Susanna Åhman
Susanna Åhman shares her story as a mother to a teenager with X-linked retinoschisis. Combining heart with reality, she puts a human face on the diagnosis and highlights what daily life looks like behind the medical data.