[An analysis of the pathophysiology of inherited diseases]

Evidence-based ophthalmology relies on a knowledge of the pathophysiological mechanisms at the molecular level. An example is the anti-VEGF therapy to treat the wet form of age-related macular degeneration. Its therapeutic effect is due to the neutralisation of a single type of molecule, the VEGF-A. The analysis of pathophysiological mechanisms of inherited diseases represents a unique opportunity to develop precise molecular therapeutic approaches. This analysis begins with the identification of the responsible gene which is followed by investigation of the function of its gene product along with the mutation-dependent changes using animal models and investigation of single molecules in expression systems. In this process the investigation of the pathomechanisms plays a central role. This review provides an orientation about studies on the pathophysiology of inherited diseases with a description of its methods and basic pathomechanisms. Furthermore, examples will be given on how the analysis of inherited retinal diseases has led to an understanding of the pathomechanisms of acquired diseases such as age-dependent macular degeneration and to the development of new therapeutic approaches.