X-linked retinoschisis (XLRS) is the leading cause of juvenile macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative gene RS1 which encodes a 224 amino acid secreted retinal protein, retinoschisin. Retinoschisin octamerises, is implicated in cell-cell interactions and cell adhesion perhaps by interacting with â2 laminin. Mutations cause loss of retinoschisin function by one of three mechanisms: interfering with protein secretion, preventing its octamerisation or by reducing function in the secreted octamerised protein. The development of retinoschisis mouse models have provided a model system which closely resembles the human disease. Recent reports of RS1 gene transfer to these models and the sustained restoration of some retinal function and morphology suggest gene replacement may be a possible future therapy for patients.
- gene therapy
- mouse model
- retinal dystrophy
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