Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.

ABSTRACT: Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisis (XLRS) typically affects young males; however, progressive vision loss continues throughout life. Although discovered in 1898 by Haas in two brothers, the underlying biology leading to blindness has become apparent only in the last 15 years with the advancement of human genetic analyses, generation of XLRS animal models, and the development of ocular monitoring methods such as the electroretinogram and optical coherence tomography. It is now recognized that retinoschisis results from cyst formations within the retinal layers that interrupt normal visual neurosignaling and compromise structural integrity. Mutations in the human retinoschisin gene have been correlated with diseas

SUBMITTER: Bush RA 

PROVIDER: S-EPMC4526726 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature