A rare, congenital disease affecting the retina due to the RS1 gene mutations (responsible for retinoschisin, a protein that plays a role in intercellular adhesion and retinal cellular organization). It causes macular degeneration predominantly in young males and is marked by symmetrical macular involvement of both eyes beginning in the first ten years of life, with reduced vision that glasses cannot improve.

Also Known As

  • Juvenile Retinoschisis
  • XLRS
  • X-Linked Retinoschisis (XLRS)
  • Congenital Retinoschisis
  • Juvenile Macular Degeneration/Dystrophy
  • Degenerative Retinoschisis