On behalf of Retina International, I would like to welcome you to the IRD Toolkit. This educational resource was designed by patients for patients, their representatives and their healthcare professionals to address the challenges of vision health and avoidable blindness.
The objective of this toolkit is to give you an overview of Inherited Retinal Diseases (IRDs), including descriptions of on-going research, clinical trials and new treatments of the various diseases, and associated patient advocacy. We will continually update and add to this resource as our understanding evolves. IRDs are a collection of rare retinal degenerations, such as Retinitis Pigmentosa (RP), Usher Syndrome, Leber Congenital Amaurosis (LCA), Stargardt Disease, and Juvenile Macular Degenerations. They represent the primary cause of severe visual impairment or blindness in childhood and those of working age in industrialised countries. To date, more than 280 genes have been associated with IRDs, covering 60 to 70% of all cases. Work continues to discover more. For the large majority of these rare diseases no treatment is currently available, however many clinical trials are underway giving hope for the future. Given the breadth of information, we will launch with an initial focus on LCA and Usher Syndrome and follow with other conditions. The recent approval of the first gene therapy for LCA due to biallelic mutations in the RPE65 gene gives rise to a growing demand for more information for those affected, their families and professionals alike. We hope that this toolkit is useful and look forward to your feedback and suggestions. Enjoy your visit, Christina Fasser, President, Retina International