Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

ABSTRACT: X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1 gene leading to splitting of retinal layers (schisis) which impairs visual signal processing. Retinoschisin (RS1) is an adhesive protein which is secreted predominantly by the photoreceptors and bipolar cells as a double-octameric complex. In general, XLRS patients show wide clinical heterogeneity, presenting practical challenges in disease management. Though researchers have attempted various approaches to offer an explanation for clinical heterogeneity, the molecular basis has not been understood yet. Therefore, this study aims at establishing a link between the phenotype and genotype based on the molecular mechanism exerted by the mutations. Twenty seven XLRS patients were enrolled, of which seve

SUBMITTER: Sudha D 

PROVIDER: S-EPMC5978886 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature