Background: Inherited 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.
Methods: Based 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.