June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by EVICR.net and ERN-EYE
Author Affiliations & Notes
  • Joana Tavares
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
  • Birgit Lorenz
    Department of Ophthalmology, University Hospital Bonn, Bonn, Germany
    Justus-Liebig-University, Giessen, Germany
  • Ingeborgh van den Born
    Rotterdam Eye Hospital, Rotterdam, Netherlands
  • João Pedro Marques
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
    Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
  • Katarina Stingl
    Center for Ophthalmology, University of Tuebingen, University Eye Hospital, Tuebingen, Germany
  • Elisabetta Pilotto
    Department of Ophthalmology, University of Padova, Padova, Italy
  • Peter Charbel Issa
    Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
    Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
  • Dorothee Leroux
    CARGO & ERN-EYE management, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • Helene Dollfus
    CARGO & ERN-EYE management, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • Hendrik P Scholl
    Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
    Department of Ophthalmology, University of Basel, Basel, Switzerland
  • Footnotes
    Commercial Relationships   Joana Tavares None; Birgit Lorenz Novartis, Janssen, Code C (Consultant/Contractor); Ingeborgh van den Born None; João Marques Novartis, Bayer, Chiesi, Roche , Code C (Consultant/Contractor); Katarina Stingl ProQR, ViGeneron, Novartis, Santen, Rejuveron, Lightning Health, Code C (Consultant/Contractor), Novartis, CRA , Code R (Recipient); Elisabetta Pilotto None; Peter Charbel Issa Dicerna Heidelberg Engineering, Code F (Financial Support); Dorothee Leroux None; Helene Dollfus Novartis, Janssen, Rhythm, Code C (Consultant/Contractor); Hendrik Scholl Gerson Lehrman Group, Guidepoint, Tenpoint Therapeutics Ltd. , Code C (Consultant/Contractor), Swiss National Science Foundation (National Center of Competence in Research Molecular Systems Engineering “Molecular Systems Engineering”), Wellcome Trust (Pinnacle Study), Foundation Fighting Blindness Clinical Research Institute, Novartis Pharma AG, Pharma Research & Early Development (pRED) of F. Hoffmann-La Roche Ltd, Kinarus AG, Code F (Financial Support), Gensight Biologics, ReNeuron Group Plc/Ora Inc., Novo Nordisk, Ionis Pharmaceuticals, Inc., Astellas Institute for Regenerative Medicine, Code S (non-remunerative)
  • Footnotes
    Support  Novartis Sponsorship
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 4481 – F0268. doi:
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    • Get Citation

      Joana Tavares, Birgit Lorenz, Ingeborgh van den Born, João Pedro Marques, Katarina Stingl, Elisabetta Pilotto, Peter Charbel Issa, Dorothee Leroux, Helene Dollfus, Hendrik P Scholl; Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by EVICR.net and ERN-EYE. Invest. Ophthalmol. Vis. Sci. 2022;63(7):4481 – F0268.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : An increasing number of gene-specific therapies are being developed for IRDs. Identification of well characterised patients is an emerging need. We conducted the second multinational survey among the EVICR.net and ERN-EYE members to understand the management of IRDs in Europe, and compared it to the 2019 survey1, 2.

Methods : An electronic survey questionnaire was developed and sent to the 126 EVICR.net and ERN-EYE clinical centers (25 countries). Statistical analysis was performed with Excel and R.

Results : The overall response rate was 44% but varied among countries. Only 9% of responding centers do not see IRD patients (1st survey 14%); 42% follow at least 200 patients per year, 18% follow 500-999 and 2% more than 1000. Databases exist in 86% of the centers (local 86%; national web-based 12%). IRD patients are referred to EVICR.net and ERN-EYE centers mainly by general ophthalmologists, patient self-referral, or medical retina specialists. Most IRD patients are first seen as adults. Signs and symptoms depend on age of onset (infancy: nystagmus, older ager night blindness and reduced visual acuity [VA]). Mean time from asking for 1st appointment and clinical diagnosis varies among countries: 36% of centers < 4 weeks, up to 12 months in others (1st survey ≤35 months). Comprehensive ophthalmic examination always includes VA, in 98% visual fields, and imaging (FAF and/or NIRAF, OCT and/or OCTA), in 96% fundus photography and electrophysiology, in 94% color vision testing and in 92% refraction. Identification of genotypes is possible in 72% of centers in 40-80% (1st survey 69%) of cases. The time for confirmation of the genetic diagnosis varies from 2-4 weeks to 24 months (1st survey > 4 weeks and ≤ 10 years). Genetic testing is covered by public health service in 83%, private health insurance in 29%, research funds in 24%; 5% do not have access to genetic testing (1st survey 15%).

Conclusions : This 2nd multinational survey on management of IRDs in Europe highlights important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increasing genotyping. The data are particularly useful in the era of rapidly increasing gene therapy trials for IRDs.

1. Lorenz B, et al. Ophthalmic Res. 2021;64(4):622-638. doi:10.1159/000514540
2. Lorenz B, et al. Ophthalmic Res. 2021;64(5):740-753. doi:10.1159/000515688

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

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