Design and development of AAV-based gene supplementation therapies for achromatopsia and retinitis pigmentosa

Abstract

Achromatopsia (ACHM) and retinitis pigmentosa (RP) are inherited disorders caused by mutations in cone and rod photoreceptor-specific genes, respectively. ACHM strongly impairs daylight vision, whereas RP initially affects night vision and daylight vision at later stages. Currently, gene supplementation therapies utilizing recombinant adeno-associated virus (rAAV) vectors are being developed for various forms of ACHM and RP. In this chapter, we describe the procedure of designing and developing specific and efficient rAAV vectors for cone- and rod-specific gene supplementation.