[Inherited retinal disorders: clinical and molecular genetic diagnostic].

Abstract

Inherited retinal dystrophies (IRD) are the most frequent cause for severe visual loss in the working age. The heterogeneous group of IRDs is associated with loss of visual function and has a severe impact on personal and familial life. Early diagnosis is of high relevance for patients and their families, to facilitate possible therapies and professional help for the individual situation. This review summarizes a diagnostic protocol for an efficient diagnosis of IRD including non-invasive retinal imaging, functional and molecular genetic testing as well as examination in specialized centers for IRD.