Biology of retinoschisin

Camasamudram Vijayasarathy, Lucia Ziccardi, Paul A. Sieving

Research output: Chapter in Book/Report/Conference proceedingConference contribution

8 Scopus citations

Abstract

There is good evidence that retinoschisin (RS1) is one of the key participants in retinal cell adhesion processes controlling the formation of retinal cell layers and mosaics. Loss-of-function mutations in the X-linked retinoschisis (RS1) gene lead to splitting within the retina, a condition known as the X-linked juvenile retinoschisis (XLRS). XLRS causes impairment of visual activity in young males and frequently progresses to even more severe reduction of both central and peripheral vision with age. This perspective reviews progress in the field of RS1 biology and pathophysiology.

Original languageEnglish (US)
Title of host publicationRetinal Degenerative Diseases
EditorsMatthew LaVail, Robert Anderson, Christian Grimm, John Ash, Joe Hollyfield
Pages513-518
Number of pages6
DOIs
StatePublished - 2012
Externally publishedYes

Publication series

NameAdvances in Experimental Medicine and Biology
Volume723
ISSN (Print)0065-2598

Keywords

  • Bipolar Cells
  • Discoidin Domain
  • Gene Therapy
  • Mutations
  • Photoreceptors
  • Retina
  • Retinoschisin
  • Synapse
  • X-Linked Retinoschisis

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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