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 2006
Externally publishedYes

Fingerprint

Retinoschisis
Phenotype
Mutation
Epigenomics
Genes

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

Cite this

Iannaccone, A., Mura, M., Dyka, F. M., Ciccarelli, M. L., Yashar, B. M., Ayyagari, R., ... Molday, R. S. (2006). An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Vision Research, 46(22), 3845-3852. https://doi.org/10.1016/j.visres.2006.06.011

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. / Iannaccone, Alessandro; Mura, Marco; Dyka, Frank M.; Ciccarelli, Maria Laura; Yashar, Beverly M.; Ayyagari, Radha; Jablonski, Monica M.; Molday, Robert S.

In: Vision Research, Vol. 46, No. 22, 10.2006, p. 3845-3852.

Research output: Contribution to journalArticle

Iannaccone, A, Mura, M, Dyka, FM, Ciccarelli, ML, Yashar, BM, Ayyagari, R, Jablonski, MM & Molday, RS 2006, 'An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation', Vision Research, vol. 46, no. 22, pp. 3845-3852. https://doi.org/10.1016/j.visres.2006.06.011
Iannaccone, Alessandro ; Mura, Marco ; Dyka, Frank M. ; Ciccarelli, Maria Laura ; Yashar, Beverly M. ; Ayyagari, Radha ; Jablonski, Monica M. ; Molday, Robert S. / An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. In: Vision Research. 2006 ; Vol. 46, No. 22. pp. 3845-3852.
@article{a56197aa8a7c4547919c097ebe42cfed,
title = "An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation",
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.",
keywords = "Bipolar cell, Electroretinogram (ERG), Genetics, Retinoschisis, Tapetal-like reflex",
author = "Alessandro Iannaccone and Marco Mura and Dyka, {Frank M.} and Ciccarelli, {Maria Laura} and Yashar, {Beverly M.} and Radha Ayyagari and Jablonski, {Monica M.} and Molday, {Robert S.}",
year = "2006",
month = "10",
doi = "10.1016/j.visres.2006.06.011",
language = "English (US)",
volume = "46",
pages = "3845--3852",
journal = "Vision Research",
issn = "0042-6989",
publisher = "Elsevier Limited",
number = "22",

}

TY - JOUR

T1 - An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation

AU - Iannaccone, Alessandro

AU - Mura, Marco

AU - Dyka, Frank M.

AU - Ciccarelli, Maria Laura

AU - Yashar, Beverly M.

AU - Ayyagari, Radha

AU - Jablonski, Monica M.

AU - Molday, Robert S.

PY - 2006/10

Y1 - 2006/10

N2 - 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.

AB - 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.

KW - Bipolar cell

KW - Electroretinogram (ERG)

KW - Genetics

KW - Retinoschisis

KW - Tapetal-like reflex

UR - http://www.scopus.com/inward/record.url?scp=33748689102&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748689102&partnerID=8YFLogxK

U2 - 10.1016/j.visres.2006.06.011

DO - 10.1016/j.visres.2006.06.011

M3 - Article

C2 - 16884758

AN - SCOPUS:33748689102

VL - 46

SP - 3845

EP - 3852

JO - Vision Research

JF - Vision Research

SN - 0042-6989

IS - 22

ER -