The research status and progress of gene therapy for X-linked juvenile retinoschisis / 中华眼底病杂志

ABSTRACT

X-linked juvenile retinoschisis (XLRS) is a rare X-linked inherited retinal disorder, mainly affects bilateral retina. Patients often present with visual deterioration accompanied by a spoke-wheel pattern in the macula due to splitting of inner retinal layers and a disproportionate decline in the b-wave relative to a-wave of electroretinogram. The current therapy is mainly directed toward treatment of complications with no effective clinical management yet. In recent years, with the deepening understanding of XLRS, adeno-associated virus(AAV)-mediated gene therapy has become a potential new approach for the treatment. Two clinical trials on XLRS gene therapy are currently underway. These two clinical trials assess the ocular safety and tolerability of recombinant AAV- RS1 vector and explore its safe dose in XLRS patients. However, the recovery of retinal structure and function in XLRS patients is unsatisfactory. Following the in-depth research and progress of clinical trials, it is expected that more accurate and effective treatments for XLRS patients will be provided in the future.