Literature DB >> 27369766

Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.

J Jason McAnany1,2,3, Jason C Park4, Frederick T Collison5, Gerald A Fishman4,5, Edwin M Stone6.   

Abstract

PURPOSE: To evaluate rod-isolated, cone-isolated, and combined rod and cone flicker electroretinograms (ERGs) as a possible means to identify electrophysiological abnormalities in carriers of X-linked retinoschisis (XLRS).
METHODS: Full-field ERGs were recorded from six carriers of XLRS (aged 34-66 years) and eight normally sighted subjects (aged 27-59 years) under rod-isolated (ERGR), cone-isolated (ERGC), and combined rod and cone (ERGR+C) conditions. ERGs were obtained using a four-primary LED-based ganzfeld photostimulator and standard recording techniques. The four primaries were modulated sinusoidally in phase to achieve combined rod and cone activation (ERGR+C) or in different phases to achieve ERGR and ERGC by means of triple silent substitution. After 30 min of dark adaptation, 8- and 15-Hz ERGR, ERGC, and ERGR+C responses were obtained at a mean luminance level of 24 scot. cd/m(2). Standard ISCEV ERGs were also obtained from each subject.
RESULTS: The ISCEV and 15-Hz flicker ERGs were generally within the normal range for the carriers. The 8-Hz ERGR, ERGC, and ERGR+C amplitudes were also generally normal. In contrast, the carriers had ERGR, ERGC, and ERGR+C timing abnormalities, with phase advances beyond the range of normal for the ERGR (four carriers), ERGC (four carriers), and ERGR+C (three carriers). Only one carrier had normal 8-Hz responses under all conditions.
CONCLUSIONS: The 8-Hz ERG timing abnormalities in five of six carriers indicate that retinal function is not necessarily normal in carriers of XLRS. The 8-Hz flicker ERG may be useful for studying retinal function in these individuals.

Entities:  

Keywords:  Cone; Electroretinogram (ERG); Flicker; Rod; X-linked retinoschisis

Mesh:

Year:  2016        PMID: 27369766      PMCID: PMC5556686          DOI: 10.1007/s10633-016-9551-0

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN: 0012-4486            Impact factor:   2.379


  25 in total

1.  X-linked congenital retinoschisis.

Authors:  U Kellner; S Brümmer; M H Foerster; A Wessing
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1990       Impact factor: 3.117

2.  Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.

Authors:  T Wang; A Zhou; C T Waters; E O'Connor; R J Read; D Trump
Journal:  Br J Ophthalmol       Date:  2006-01       Impact factor: 4.638

3.  Positional cloning of the gene associated with X-linked juvenile retinoschisis.

Authors:  C G Sauer; A Gehrig; R Warneke-Wittstock; A Marquardt; C C Ewing; A Gibson; B Lorenz; B Jurklies; B H Weber
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

4.  The natural history of X-linked retinoschisis.

Authors:  M T Roesch; C C Ewing; A E Gibson; B H Weber
Journal:  Can J Ophthalmol       Date:  1998-04       Impact factor: 1.882

Review 5.  X linked retinoschisis.

Authors:  N D George; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

6.  A carrier state of X-linked juvenile retinoschisis.

Authors:  G Wu; E Cotlier; S Brodie
Journal:  Ophthalmic Paediatr Genet       Date:  1985-02

7.  X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.

Authors:  A E Krill
Journal:  Trans Am Ophthalmol Soc       Date:  1969

8.  Cone dystrophies with negative photopic electroretinogram.

Authors:  U Kellner; M H Foerster
Journal:  Br J Ophthalmol       Date:  1993-07       Impact factor: 4.638

9.  Rod- and cone-isolated flicker electroretinograms and their response summation characteristics.

Authors:  J Jason McAnany; Jason C Park; Dingcai Cao
Journal:  Vis Neurosci       Date:  2015-01       Impact factor: 3.241

10.  Multifocal ERG findings in carriers of X-linked retinoschisis.

Authors:  Linda S Kim; William Seiple; Gerald A Fishman; Janet P Szlyk
Journal:  Doc Ophthalmol       Date:  2006-12-19       Impact factor: 2.379

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  2 in total

1.  Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.

Authors:  Yang Liu; Junzo Kinoshita; Elena Ivanova; Duo Sun; Hong Li; Tara Liao; Jingtai Cao; Brent A Bell; Jacob M Wang; Yajun Tang; Susannah Brydges; Neal S Peachey; Botir T Sagdullaev; Carmelo Romano
Journal:  Hum Mol Genet       Date:  2019-09-15       Impact factor: 6.150

2.  A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.

Authors:  Xiao-Fang Wang; Fei-Fei Chen; Xin Zhou; Xin-Xuan Cheng; Zheng-Gao Xie
Journal:  Front Genet       Date:  2022-09-23       Impact factor: 4.772

  2 in total

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