A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

Ann Lab Med. 2019 Jan;39(1):109-112. doi: 10.3343/alm.2019.39.1.109.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Electroretinography
  • Eye Proteins / genetics*
  • Gene Deletion
  • Humans
  • Male
  • Pedigree
  • Retina / diagnostic imaging
  • Retina / physiology
  • Retinoschisis / diagnosis*
  • Retinoschisis / genetics
  • Tomography, Optical Coherence

Substances

  • Eye Proteins
  • RS1 protein, human