Member info
Dr Dorothée Leroux
Substitute
France
Working Group Leader: CPMS & Digital Medecine (TWG10)
Other Working Group(s): Retinal Rare Eye Diseases (WG1), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Anterior Segment Rare Eye Diseases (WG4), Low Vision Daily Life and Patients Groups (TWG5), Genetic Diagnostics (TWG6), Registries & Epidemiology (TWG7), Research (TWG8), National Integration (TWG9), CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee
Team
Pr Hélène Dollfus
France
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee, Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Working Group Leader
Dr Monika Grudzinska Pechhacker
France
CPMS & Digital Medecine (TWG10), Genetic Diagnostics (TWG6), Pediatric Ophthalmology Rare Diseases (WG3), Retinal Rare Eye Diseases (WG1)
Dr Isabella Vacchi
France
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Dr Amélie Gavard
France
Anterior Segment Rare Eye Diseases (WG4), BBS Guidelines, CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee, Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Caroline Wernert-Iberg
France
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee, Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
HCP Center
The Reference Center for Rare Disorders in Ophthalmic Genetics (CARGO) was created in the National Rare Diseases Plan in November 2004. It welcomes...
contact
CARGO, Hôpitaux Universitaires de Strasbourg, France
Hôpital Civil -Bâtiment du Centre de Recherche en Biomédecine de Strasbourg (CRBS),1 Rue Eugène Boeckel
67000 STRASBOURG
France
Scientific publications
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in...
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net
This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed...
PDF - 1 MB
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey
An electronic survey questionnaire with 48 questions specifically addressing RPE65-IRD (2019 survey 35) was developed and sent by June 2021 to 95...
PDF - 665 KB
An ontological foundation for ocular phenotypes and rare eye diseases
To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease...
