An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

Published

Journal Article

A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our knowledge, had not been previously reported. An ON-pathway dysfunction explained the abnormalities of the transient but not those of the flicker ERGs. Although in vitro studies showed that the W112C mutant retinoschisin is present only in the cellular fraction and is not secreted, disease expression was remarkably mild, consistent with the notion of the existence of genetic and/or epigenetic disease modifiers.

Full Text

Duke Authors

Cited Authors

  • Iannaccone, A; Mura, M; Dyka, FM; Ciccarelli, ML; Yashar, BM; Ayyagari, R; Jablonski, MM; Molday, RS

Published Date

  • October 2006

Published In

Volume / Issue

  • 46 / 22

Start / End Page

  • 3845 - 3852

PubMed ID

  • 16884758

Pubmed Central ID

  • 16884758

International Standard Serial Number (ISSN)

  • 0042-6989

Digital Object Identifier (DOI)

  • 10.1016/j.visres.2006.06.011

Language

  • eng

Conference Location

  • England