Current management of Inherited Retinal Degenerations patients in Europe. Results of a multinational survey by the European Vision Institute Clinical Research Network

Birgit Lorenz, Joana Tavares, L Ingeborgh van den Born, João Pedro Marques, Hendrik P N Scholl

Research output: Contribution to journalArticleResearchpeer-review


PURPOSE: An increasing number of gene therapies are developed for Inherited Retinal Degenerations (IRD). To date, one treatment has been approved for clinical use (FDA USA 2017, EMA Europe 2018, MoHAP UAE 2019, SFDA Saudi Arabia 2019, Swiss Medic Switzerland 2020, TGA Australia 2020, BFR Brazil 2020). Whilst such therapies do not provide complete cure, they may halt degeneration or partially restore function. Identification of well-characterized patients is an emerging need. We conducted the first multinational survey to understand the management of IRDs in Europe.

METHODS: An electronic survey questionnaire containing 112 questions was developed and sent to the 101 Clinical Centers (14 European Countries and Israel).

RESULTS: The overall response rate was 49%. Only 14% of responding centers do not see IRD patients; 52% that manage IRD patients follow ≥200 patients, 16% >1000. Databases exist in 86% of the centers; of these 75% are local files, 28% local web-based database and 19% national web-based. IRD patients are referred to centers mainly by general ophthalmologists, patient self-referrals and medical retina specialists. Most IRD patients are first seen in adulthood. Most prominent signs and symptoms depend on age of onset, e.g. nystagmus in infancy, or night blindness and reduced visual acuity at older age. The time from inquiring for first appointment and clinical diagnosis varies among countries: in 29% of centers, the mean time is < 4 weeks, although can be up to 35 months in others. The time to genetic diagnosis is ≥4 weeks, the maximum 10 years, likely depending on access to genetic testing, and the improvement of the tests available. Comprehensive eye examination always includes autofluorescence imaging and perimetry (86% static; 76% kinetic; 21% microperimetry), and frequently optical coherence tomography (95%), electroretinography (93%) and fundus photography (93%). Identified genotypes were reported in 40 to 80% patients by 69% of centers, and in 80 to 100% by 5%. Genetic testing is provided by public health insurance in 77% of centers, private health insurance in 38%, center budget in 13%, research funds in 18%; 15% of centers do not have access to genetic testing.

CONCLUSION: At the start of this era of ocular gene therapy for IRD patients, this first international survey on management of IRDs in Europe highlights significant heterogeneity between centers and across countries and provides important baseline data for researchers, clinicians, pharmaceutical companies and investors.

Original languageEnglish
Pages (from-to)622-638
Number of pages17
JournalOphthalmic Research
Issue number4
Early online date19 Jan 2021
Publication statusPublished - Aug 2021


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