Definition:

Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Affected persons typically display cystic streaks projecting from the parafoveal region of the retina, and a reduction in the b-wave amplitude of the full-field electroretinogram (ERG). Optical coherence tomography (OCT) further reveals a splitting of the outer plexiform and adjacent retinal layers.