Current situation and the future of retinal gene therapy / 中华实验眼科杂志

ABSTRACT

Following the development of technologies in molecular biology,more and more mutant genes that cause retinal degenerative diseases have been found.Meanwhile,many naturally occurring or genetically engineered animal models have showed similar gene mutations and phenotypes as the human inherited retinal diseases,which have led to the development of a variety of therapeutic strategies for those traditionally incurable inherited diseases.Following Leber congenital amaurosis 2 (LCA2) gene therapy clinical trial,more gene therapy clinical trials including retinitis pigmentosa (RP) with MERTK mutation,Stargardt disease with ABCA4 mutation,Usher syndrome with MYO7A mutation and age-related macular degeneration (AMD) are ongoing.Adeno associated virtal (AAV) vectormediated gene replacement therapy that covers the whole retina showed great potential to cure early stage of those patients;while,gene replacement therapy combined with other approaches like treatment with anti-apoptotic agent and/or neurotropic factor,which can extend the therapeutic window in middle to late stages of those patients,is a potentially promising strategy for improving photoreceptor function and significantly slowing the process of retinal degeneration.