X-linked juvenile retinoschisis (XLRS) is a rare, hereditary retinal dystrophy caused by mutations in the RS1 gene, which encodes retinoschisin. Abnormal function of this protein disrupts retinal organisation and structural integrity, particularly in the macula, leading to retinoschisis and progressive visual acuity loss. Current management is primarily symptomatic and focuses on treating the disease’s complications. Although carbonic anhydrase inhibitors have a beneficial effect on retinal cystic changes, the resulting anatomical improvement does not always translate into improved visual function. The development of gene therapy aimed at restoring normal RS1 gene expression currently represents the most promising avenue of research into a causative treatment for XLRS. Results from preclinical and early clinical studies to date indicate the potential efficacy of this strategy; however, further analysis regarding its long-term safety and effectiveness is required.