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, 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 to a teenager with X-linked retinoschisis.
- Discussion
Registration
Biographies
Dr Joni Turunen
Pr Markus Preising
Pr Camiel Boon
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.