RS1

The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. The retina is a specialized light-sensitive tissue that lines the back of the eye. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina and in specialized cells within the retina that detect light and color (photoreceptor cells). This protein's exact role in the maintenance of the retina is unknown. Retinoschisin probably is involved in the organization of cells in the retina by connecting cells together (cell adhesion).

X-linked juvenile retinoschisis - caused by mutations in the RS1 gene

More than 160 mutations in the RS1 gene have been found to cause X-linked juvenile retinoschisis. Most of these mutations change one protein building block (amino acid) in the retinoschisin protein, although many different types of mutations have been identified. Research suggests that the various mutations in the RS1 gene affect the function of the retinoschisin protein in three different ways: by altering the 3-dimensional structure of the protein, by impairing its ability to connect cells together (cell adhesion), and by causing the protein to be misplaced within the retinal cells. The type of protein dysfunction depends on the location of the mutation within the RS1 gene. Changes in the retinoschisin protein disrupt its role in the maintenance of the retina. As a result, splitting or tearing of the retina can occur, causing reduced sharpness and other vision problems associated with X-linked juvenile retinoschisis.