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

Alessandro Iannaccone, Marco Mura, Frank M. Dyka, Maria Laura Ciccarelli, Beverly M. Yashar, Radha Ayyagari, Monica M. Jablonski, Robert S. Molday

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)3845-3852
Number of pages8
JournalVision Research
Volume46
Issue number22
DOIs
StatePublished - Oct 1 2006

Keywords

  • Bipolar cell
  • Electroretinogram (ERG)
  • Genetics
  • Retinoschisis
  • Tapetal-like reflex

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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