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

doi:10.1016/j.visres.2006.06.011

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 journal › Article › peer-review

14 Scopus citations

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 language	English (US)
Pages (from-to)	3845-3852
Number of pages	8
Journal	Vision Research
Volume	46
Issue number	22
DOIs	https://doi.org/10.1016/j.visres.2006.06.011
State	Published - Oct 2006
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Ophthalmology
Sensory Systems

Access to Document

10.1016/j.visres.2006.06.011

Cite this

@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.}",

note = "Funding Information: The authors gratefully acknowledge support from: Grant-in-Aid GA03048, Fight for Sight, New York, NY (A.I.); Research to Prevent Blindness, Inc., New York, NY (unrestricted grants to UTHSC Department of Ophthalmology and U.M. Department of Ophthalmology and Visual Sciences; Career Development Award to A.I.; and Sybil Harrington Special Scholar Award to R.A., and a Arthur and June Wilms Fellowship to F.M.D.); Grants no. EY02422 (R.S.M.), EY13198 (R.A.), EY07003 and EY07060 (core grants, UM Department of Ophthalmology and Visual Sciences) and EY13080 (core grant, UTHSC Department of Ophthalmology) National Eye Institute, NIH, Bethesda, MD; and Foundation Fighting Blindness, Owing Mills, MD (R.A.). We also thank Dr. Paul A. Sieving, M.D., Ph.D., National Eye Institute, NIH, Bethesda, MD (USA) for his insightful comments and suggestions in the early stages of this investigation. ",

year = "2006",

month = oct,

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.

N1 - Funding Information: The authors gratefully acknowledge support from: Grant-in-Aid GA03048, Fight for Sight, New York, NY (A.I.); Research to Prevent Blindness, Inc., New York, NY (unrestricted grants to UTHSC Department of Ophthalmology and U.M. Department of Ophthalmology and Visual Sciences; Career Development Award to A.I.; and Sybil Harrington Special Scholar Award to R.A., and a Arthur and June Wilms Fellowship to F.M.D.); Grants no. EY02422 (R.S.M.), EY13198 (R.A.), EY07003 and EY07060 (core grants, UM Department of Ophthalmology and Visual Sciences) and EY13080 (core grant, UTHSC Department of Ophthalmology) National Eye Institute, NIH, Bethesda, MD; and Foundation Fighting Blindness, Owing Mills, MD (R.A.). We also thank Dr. Paul A. Sieving, M.D., Ph.D., National Eye Institute, NIH, Bethesda, MD (USA) for his insightful comments and suggestions in the early stages of this investigation.

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

SN - 0042-6989

VL - 46

SP - 3845

EP - 3852

JO - Vision Research

JF - Vision Research

IS - 22

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this