Gene Therapy Trial on X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

Pathogenic variants of Retinitis pigmentosa GTPase regulator (RPGR) gene are the commonest cause of X-linked retinitis pigmentosa (RP). Affected children typically have early onset severe retinal degeneration which leads to blindness in early adulthood. Emerging genetic therapies and encouraging results from a recent gene therapy trial bring hope to patients losing vision from this blinding retinopathy. In this chapter, we discuss current clinical management, genotype–phenotype correlations, and pathophysiology of RPGR-related RP. In addition, we discuss the development of RPGR gene therapy, from bench to bedside and review the initial results from a gene therapy clinical trial using a full-length codon optimised RPGR vector demonstrating safety and reversal of visual loss in treated patients.