RHORCOD

Rod-cone dystrophies (RCD) are a heterogeneous group of genetic retinal disorders leading to severe visual impairment. To date, over 180 different genes have been implicated which complicates the identification of disease mechanisms and treatments. There is indeed no current effective treatment for RCD. Hence, to develop therapeutic strategies, better understanding of the disease is required through the establishment of novel biomathematical models of the course of retinal degeneration. Recent progresses in genetic characterization of causative mutations in humans and animals combined with high resolution systems for in vivo imaging and function now enables to monitor degenerative process at the cellular level. Thus, accurate phenotype and genotype correlation is now possible. To achieve this, harmonization of phenotypic techniques, development of novel phenotypic strategies in both human and animal models that can then be used to assess novel treatment(s), as well as the constitution of phenotypically and genotypically well-characterized cohorts of patients from different ethnic background are essential. This is what we propose to fulfil in the current joint proposal gathering 6 groups composed of clinicians and scientists experts in inherited retinal diseases, their phenotypic assessment as well as retinal physiopathology and therapeutic research. Focus will be given to rod-specific gene mutations, i.e. RHO, for comprehensive phenotypic characterization of patients and animal models, definition of critical endpoint measurement for cone survival and test novel therapies.