ERN-EYE Webinar – Understanding Opsin-Related Retinal Disorders

ERN-EYE Webinar – Understanding Opsin-Related Retinal Disorders

Date and time

Monday 17 November, 4.00 pm CET.

Programme

1. Patient perspective, Dr Renata Sarno, Ph.D. in Theoretical Physics, Italy
2. Clinical perspective, Dr Suzanne Yzer, Radboud University Medical Center (Radboudumc), Nijmegen, the Netherlands
   
3. Opsin cluster and standard diagnostic approach, Dr Susanne Kohl, Centre for Ophthalmology, University Hospitals Tübingen, Germany
   
4. Upcoming diagnostics, Dr Lonneke Haer-Wigman, Radboud University Medical Center (Radboudumc), Nijmegen, the Netherlands

Registration

Biographies

Dr Renata Sarno

Renata Sarno holds a Ph.D. in Theoretical Physics and is based in Italy. With five relatives affected by Blue Cone Monochromacy (BCM), she has been a dedicated patient advocate for BCM and achromatopsia since 2009. Renata founded an international community of individuals and families living with BCM and serves as President of the BCM Families Foundation (BCMFF). She is also a Director of the Associazione Acromati Italiani Onlus. Through BCMFF, she promotes and supports significant scientific research aimed at the diagnosis and treatment of BCM, and has developed an international patient registry to advance understanding of this rare retinal disorder.

Dr Suzanne Yzer

Dr. Suzanne Yzer is a board-certified ophthalmologist and clinician-scientist with expertise in retinal care, ophthalmic genetics, and translational therapeutics. Her doctoral research, conducted at Radboudumc (Netherlands) and McGill University (Canada), uncovered key genotype-phenotype correlations in recessive retinal dystrophies, contributing to the Dutch cohort involved in the first EMA-approved ocular gene therapy. Following a research fellowship at Columbia University, she joined Rotterdam Eye Hospital and later moved to Radboudumc in 2020. There, she leads the Medical Retina and Ophthalmogenetics teams, overseeing gene therapy trials and mentoring Ph.D. candidates.

Dr Susanne Kohl

Susanne Kohl is the Deputy Head of the Molecular Genetics Laboratory at the Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospitals Tübingen. For over 30 years, she has been investigating the genetic causes of inherited retinal dystrophies. She oversees the local biobank and database for inherited retinal dystrophies and optic atrophies, and serves as the primary contact for inquiries related to genetic research and diagnostics. Susanne has contributed to the identification of numerous genes associated with these blinding disorders, with a particular focus on achromatopsia and related cone photoreceptor diseases. The Molecular Genetics Laboratory is among the few worldwide offering genetic testing for X-linked blue cone monochromatism.

Dr Lonneke Haer-Wigman

Lonneke Haer-Wigman is a Clinical Laboratory Geneticist at Radboud university medical center (Radboudumc) in Nijmegen, the Netherlands. She has extensive experience in molecular diagnostics and genomic analysis, with a particular focus on inherited retinal diseases. Her work involves developing and implementing advanced genetic testing methods to improve diagnostic accuracy and patient care. Lonneke has contributed to several research projects on the genetic basis of visual disorders, including studies on the opsin gene cluster. In her current role, she bridges research and diagnostics, translating scientific insights into clinical applications.