Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics

Abstract

Inherited retinal diseases (IRD) are rare eye diseases and pose high diagnostic challenges. Acare structure with few highly specialized centers in Germany, misdiagnosis due to the lack of molecular genetic testing, and alack of acentral registry lead to a lack of reliable information on the prevalence and distribution of IRDs in Germany. Based on clinical data from an ophthalmological center and molecular data from agenetic center as well as anationwide health insurance data query, we estimated the prevalence of IRDs in Germany in addition to collecting information on their phenotypic and genotypic distribution. The 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. Many 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 anational registry for IRD detection are needed.