XLRS

X-linked [juvenile] retinoschisis(English)

  • a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. There is evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. OCT has proven vital for diagnosis in children
  • OCT
  • Ophthalmology, Genetics, Pathology
  • https://doi.org….1038/srep20118