Inherited Retinal Diseases

Module for ERN-EYE


1365 €


30 hours e-Learning


Référence FCS21-0943A :
du 17/01/2022 au 17/03/2022

Lieu de la formation

A distance

Renseignements & inscriptions

Frédérique COSTES 03 68 85 49 27

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Accueil des personnes en situation de handicap

Le Service de la vie universitaire – Mission handicap propose un dispositif d’accueil et d’accompagnement spécifique pour permettre aux personnes en situation de handicap de se former dans les meilleures conditions possibles. Pour en savoir plus

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M. Dominique Schlaefli (

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Context and general objectives

The general objective is to improve the knowledge about Rare Eye Diseases (RED) thanks to the input of highest European and international experts

RED are a vast group of more than 1000 entities that lead to visual impairment and ultimately to blindness. 80% of these conditions are of genetic origin the others being mostly related to systemic and immunity dysfunctions. Because the field is extremely broad for clinical and scientific research, the ERN-EYE ( is launching an eLearning program to provide a wide access to knowledge in the field including the basic clinical and scientific background as well as the cutting edge research and therapy developments. The program aims to involve most renowned experts across the EU and also internationally. This first module is dedicated to Inherited Retinal Diseases.

Students and prerequisite

The students are expected to come from a wide background with the common objective of improving their knowledge in the field of Rare Eye Diseases. Pregraduate students (ophthalmology, medical genetics, visual sciences, ….) as well as post graduates healthcare professionals (MDs, ophthalmologists , orthoptists, …) or any stakeholder willing to improve knowledge in the field (pharmaceutic industry employee, clinical research assistant or manager, …)  

Compétences à l'issue de la formation
  • Understand the general physiology and histology of the retina in regard to the field of IRD, the types, subtypes and classifications of IRDs and main differential diagnosis
  • Understand the methods of clinical, imaging and functional investigations leading to the diagnosis of IRD, today and in the near future and the principles of electophysiology
  • Understand the principles of genetic testing for IRDs , todays tools and the close future ones
  • Develop a solid clinical, genetic and scientific knowledge in the following entities : rod-cone retinitis pigmentosa, cone dystrophy and related disorders, Stargardt disease
Program at a glance
  • Introduction to retinal dystrophies 
  • How to diagnose a retinal dystrophy ? 
  • How to take care of patient with IRD?
  • Genetic testing for IRDs 
  • Which therapies today and tomorrow
  • Description of categories of IRDs (rod-cone retinitis pigmentosa, cone dystrophy and related disorders, Stargardt disease, Best disease and related disorders, early onset retinitis pigmentosa (including Leber’s congenital amaurosis), syndromic retinitis pigmentosa, Ushers syndrome, Ciliopathies, congenital stationary night blindness, achromatopsia…
Pedagogical methods

The module is based on the setting of several phases listed hereunder: 

  • Online theorical courses (asynchronic)
  • Synchronic debate sessions
  • Clinical Cases analysis
  • Work in small groups (small groups virtual classroom) 
  • Resources & Documentation to consult (reference documents, recent papers) 
  • Homework: resources to consult 
  • Bottoms up sessions in small groups (virtual classrooms)
  • Evaluation: regular quiz online and trainee presentation (virtual classrooms)
Study Director

Professor Hélène DOLLFUS,  Faculté de médecine, maïeutique et sciences de la santé. Chef du Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg. Coordinatrice du Centre de Référence pour les Affections Rares en Génétique Ophtalmologique.

Email :


All courses will be in English and be designed and delivered by distance-learning. The e-learningsessions will be held on the DigitalUni platform specifically developed for continuing education.For technical information and prerequisites, please contact sfc-ead@unistra.frFor technical information and prerequisites, please contact href="" rel="noopener noreferrer"


Teaching committee
  • Pr Bart Leroy (Associate Professor, Ophthalmology, Ophthalmic Genetics & Visual electrophysiology, Ghent University, Belgium)
  • Pr Michael Larsen (Professor, overlæge, Rigshospitalets Øjenklinik og Københavns Universitet, Denmark)
  • Pr Isabelle Meunier (Professeur, Ophtalmologie, Université de Montpellier, France )
  • Pr Isabelle Audo (Professeur, Ophtalmologie et Génétique, Institut de la Vision, France )
  • Pr Hélène Dollfus (Professeur, Ophtalmologie et Génétique, Université de Strasbourg, France)

ERN-EYE is co-funded by the European Union.

Nature et sanction de la formation

This training course is an “action d’adaptation et de développement des compétences” (ref. French law). A certificate of attendance is delivered after the course. An evaluation measures the trainees’ satisfaction and the achievement of learning objectives.                                   


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