About this Research Topic
X-linked retinoschisis (XLRS) is a leading cause of hereditary juvenile macular degeneration in males resulting in significant vision impairment. It is caused by mutations in the RS1 gene encoding retinoschisin resulting in schitic changes traversing the inner retinal layers. RS1 is involved in cellular adhesion and cell-cell interactions within the INL and synaptic connection between photoreceptors and bipolar cells. There is significant variability among patients, even within the same family. Generally, disease progression is slow but leads to consequential visual loss over time. Treatments to date have had a limited impact on vision.
XLRS is caused by multiple pathogenic variants in one gene and is an important clinical target for developing gene therapy treatment. Preclinical and phase 1/2 clinical trial data is available, but overall visual improvement is modest, and the effect on disease progression is limited. There is some evidence that the immune system may play a role in the disease or response to gene therapy. Additional information on disease mechanism, natural history, and feasible and meaningful endpoints for treatment is still necessary.
Some patients develop retinal detachments. Clinical characteristics that increase the risk for retinal detachment have not been established. Adequate surgical treatment for retinal detachment has not been established.
Original research and review manuscripts will be accepted on the following aspects of this topic:
• Disease mechanism
• Natural history
• Feasible and meaningful endpoints for therapy
• Mechanism and characteristic of retinal detachment in X-linked retinoschisis
• Treatment for retinal detachment in X-linked retinoschisis
• Immune status of patients with X-linked retinoschisis
• Gene therapy
XLRS is caused by multiple pathogenic variants in one gene and is an important clinical target for developing gene therapy treatment. Preclinical and phase 1/2 clinical trial data is available, but overall visual improvement is modest, and the effect on disease progression is limited. There is some evidence that the immune system may play a role in the disease or response to gene therapy. Additional information on disease mechanism, natural history, and feasible and meaningful endpoints for treatment is still necessary.
Some patients develop retinal detachments. Clinical characteristics that increase the risk for retinal detachment have not been established. Adequate surgical treatment for retinal detachment has not been established.
Original research and review manuscripts will be accepted on the following aspects of this topic:
• Disease mechanism
• Natural history
• Feasible and meaningful endpoints for therapy
• Mechanism and characteristic of retinal detachment in X-linked retinoschisis
• Treatment for retinal detachment in X-linked retinoschisis
• Immune status of patients with X-linked retinoschisis
• Gene therapy
Keywords: X-linked retinoschisis, retina, gene therapy, inherited
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