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Retinoschisis (also known as X-Linked Retinoschisis; XLRS)

Retinoschisis is vision loss due to the splitting of retinal layers and retinal deterioration due to a mutation in the retinoschisin (RS1) gene.

The RS1 protein is thought to act like a "glue" to hold together the retina. RS1 is an X-linked gene, where it is normally males who show symptoms of this disease. In addition to visible degeneration of the retina, the electroretinogram (ERG) is a negative (b-wave more reduced than a-wave).

 

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