ArticleDie Ophthalmologie2023
[Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics].
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 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- [Ophthalmological care of patients with Bardet-Biedl syndrome].Die Ophthalmologie · 2026Article
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundInherited retinal diseases (IRD) are rare eye diseases and pose high diagnostic challenges. A care structure with few highly specialized centers in Germany, misdiagnosis due to the lack of molecular genetic testing, and a lack of a central registry lead to a lack of reliable information on the prevalence and distribution of IRDs in Germany.
methodsBased on clinical data from an ophthalmological center and molecular data from a genetic center as well as a nationwide health insurance data query, we estimated the prevalence of IRDs in Germany in addition to collecting information on their phenotypic and genotypic distribution.
resultsThe median travelling distance to the ophthalmological center was 60 km. The most frequent diagnoses were retinitis pigmentosa, macular dystrophy and general retinal dystrophy. Molecular genetic testing was performed in 87% of patients with clinical suspicion of IRD, with marked differences in frequencies among age cohorts. The molecular genetic detection rate in the genetic center was 51%. The prevalence of inherited retinal dystrophy in Germany determined by health insurance data retrieval was approximately 1:1150.
conclusionMany patients must travel long distances to visit specialized clinics for IRDs with access to genetic testing. To obtain more reliable numbers on the prevalence in Germany, routine molecular genetic testing, and a national registry for IRD detection are needed.
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