Hereditary retinal disorders (HRDs) represent a very heterogeneous disease with more than 200 contributing genes and thousands of known mutations. Especially blindness in younger years is caused by this disease.
At present no effective therapy exists, but the knowledge of the basic causes increases exponentially. With the help of molecular and multi-modal diagnostic tools inclusively modern imaging technologies the phenotypic and genotypic diverse disease can be stratified very accurately. Several preclinical proof-of-concept studies could show the efficacy of individualized gene replacement therapy in this heterogeneous disease. Resultant therapy strategies for clinical trials with patients seem to be a very promising approach for individualized medicine in the scope of ophthalmology.
The eye exhibits special advantages for developing and testing new therapies for retinal disorders as local applications within a separated compartment are possible and safety and efficacy of the therapy can be measured directly at the cellular level by high resolution imaging and functional analysis. The Institute for Ophthalmic Research possesses a huge databank with more than 11,000 phenotyped patients with HRD including more than 20,000 DNA samples that can be used for translational therapy design.