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Implementation Report (132) Health Information Exchange (228) eHealth Infrastructures (496) Secondary Use of Clinical Data for Research and Surveillance (635) Ophthalmology (118) Standards and Interoperability (221) Health Information Governance (123)

Published on in Vol 14 (2026)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/99206, first published .
Ophthalmologists examine OCT scans of the retina on a computer screen.

Building a National Interoperable Rare Eye Disease Data Warehouse: Methodological Framework and Implementation Report From the French Rare Eye Disease Database (FREDD) Initiative

Building a National Interoperable Rare Eye Disease Data Warehouse: Methodological Framework and Implementation Report From the French Rare Eye Disease Database (FREDD) Initiative

Authors of this article:

Camille Beluffi Marin1 Author Orcid Image ;   Marilyne Oswald2 Author Orcid Image ;   Laura Ratenet2 Author Orcid Image ;   Matthieu Stoll2 Author Orcid Image ;   Kirsley Chennen1 Author Orcid Image ;   Nathalie Chabin3 Author Orcid Image ;   Julie Hubert3 Author Orcid Image ;   Grégoire Rey3 Author Orcid Image ;   Guylène Le Meur4 Author Orcid Image ;   Vasily Smirnov5 Author Orcid Image ;   Isabelle Meunier6 Author Orcid Image ;   Isabelle Audo7 Author Orcid Image ;   Hélène Dollfus8 Author Orcid Image
Article Authors Cited by Tweetations Metrics

Camille Beluffi Marin   1 , PhD ;   Marilyne Oswald   2 , PhD ;   Laura Ratenet   2 , MSci ;   Matthieu Stoll   2 , MSci ;   Kirsley Chennen   1 , PhD ;   Nathalie Chabin   3 , MSci ;   Julie Hubert   3 , MSci ;   Grégoire Rey   3 , PhD ;   Guylène Le Meur   4 , MD ;   Vasily Smirnov   5 , MD ;   Isabelle Meunier   6 , Prof Dr Med ;   Isabelle Audo   7 , Prof Dr Med ;   Hélène Dollfus   8 , Prof Dr Med

1 Laboratoire de Génétique Médicale, Strasbourg, Grand Est, France

2 FSMR SENSGENE, Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, Grand Est, France

3 France Cohortes, Inserm, Ined, Sorbonne Université, Université Paris Cité, Université Paris Saclay, Paris, France

4 Nantes University, ophthalmology department Nantes University Hospital, Inserm, TARGET, Nantes, Pays de la Loire, France

5 Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, Hauts-de-France, France

6 National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier, Occitanie, France

7 Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, Île-de-France, France

8 FSMR SENSGENE, Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), ERN-EYE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

Corresponding Author:

  • Camille Beluffi Marin, PhD
  • Laboratoire de Génétique Médicale
  • 1 rue Eugène Boeckel
  • Strasbourg, Grand Est 67000
  • France
  • Phone: 33 368853065
  • Email: beluffi@unistra.fr