ArticleDie Ophthalmologie2023
[Diagnostics and management of patients with inherited retinal diseases in Germany : Results of a nationwide survey of university and non-university eye departments and specialized practices].
Article in Die Ophthalmologie, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- [Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].Die Ophthalmologie · 2026Article
- Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.Journal of clinical medicine · 2025Article
- Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa.Journal of clinical medicine · 2025Article
- Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations inMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundInherited retinal diseases (IRDs) refer to a heterogeneous group of rare disorders that potentially lead to blindness. Emerging therapeutic options have led to a growing interest in IRDs; however, there are insufficient systematic studies on IRDs in Germany characterizing the demographics and management in clinical practice.
objectiveTo characterize the care for IRD patients in Germany, to assess the applied diagnostics, the use of databases and the implementation of education in ophthalmic genetics.
methodsThe anonymous online survey (SoSci Survey GmbH) was sent to all German ophthalmology departments listed on the website of the German Ophthalmological Society and to three practices focusing on IRDs.
resultsThe overall response rate was 44.8%. Almost all institutions (93.6%) reported seeing IRD patients, but university and non-university hospitals differed in the number of patients. Databases are used in 60% of universities but only in 5.9% of non-university hospitals. Regarding the number of patients with genetic diagnostics, 53% of the non-university and 12% of the university sites reported that 20% at most of their patients had received a molecular genetic diagnosis. The results of the IRD practices are comparable with the university hospitals. Patients with biallelic RPE65 mutations-associated IRD, potential candidates for treatment with voretigene neparvovec (Luxturna®), were followed in 9/25 participating university departments.
conclusionThis survey highlights the deficits in the management of IRD patients. In particular, we found a clear difference between university and non-university hospitals in the rate of patients with known molecular genetic results. Improvements should be initiated in the latter, especially because of existing and emerging therapeutic options.
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