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

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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/m2. 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.

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References

  1. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 17(2):164–170

    Article  CAS  PubMed  Google Scholar 

  2. Wang T, Zhou A, Waters CT, O’Connor E, Read RJ, Trump D (2006) Molecular pathology of x linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol 90(1):81–86

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Deutman AF (1971) The hereditary dystrophies of the posterior pole of the eye. Van Gorcum, Assen

    Google Scholar 

  4. George ND, Yates JR, Moore AT (1995) X linked retinoschisis. Br J Ophthalmol 79(7):697–702

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Roesch MT, Ewing CC, Gibson AE, Weber BH (1998) The natural history of X-linked retinoschisis. Can J Ophthalmol 33(3):149–158

    CAS  PubMed  Google Scholar 

  6. Sieving PA, MacDonald IM, Chan S (1993) X-linked juvenile retinoschisis. In: Pagon RA, Adam MP, Ardinger HH et al (eds) Genereviews(r). GeneReviews, Seattle

  7. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG (1987) Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 105(4):513–516

    Article  CAS  PubMed  Google Scholar 

  8. Alexander KR, Fishman GA, Grover S (2000) Temporal frequency deficits in the electroretinogram of the cone system in X-linked retinoschisis. Vis Res 40(20):2861–2868

    Article  CAS  PubMed  Google Scholar 

  9. Kellner U, Brummer S, Foerster MH, Wessing A (1990) X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 228(5):432–437

    Article  CAS  PubMed  Google Scholar 

  10. Kellner U, Foerster MH (1993) Cone dystrophies with negative photopic electroretinogram. Br J Ophthalmol 77(7):404–409

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Falsini B, Iarossi G, Porciatti V, Merendino E, Fadda A, Cermola S, Buzzonetti L (1994) Postreceptoral contribution to macular dysfunction in retinitis pigmentosa. Invest Ophthalmol Vis Sci 35(13):4282–4290

    CAS  PubMed  Google Scholar 

  12. Alexander KR, Barnes CS, Fishman GA (2001) Origin of deficits in the flicker electroretinogram of the cone system in X-linked retinoschisis as derived from response nonlinearities. J Opt Soc Am A Opt Image Sci Vis 18(4):747–754

    Article  CAS  PubMed  Google Scholar 

  13. Murayama K, Kuo CY, Sieving PA (1991) Abnormal threshold erg response in X-linked juvenile retinoschisis—evidence for a proximal retinal origin of the human str. Clin Vis Sci 6(4):317–322

    Google Scholar 

  14. Wu G, Cotlier E, Brodie S (1985) A carrier state of X-linked juvenile retinoschisis. Ophthalmic Paediatr Genet 5(1–2):13–17

    Article  CAS  PubMed  Google Scholar 

  15. Kim LS, Seiple W, Fishman GA, Szlyk JP (2007) Multifocal erg findings in carriers of X-linked retinoschisis. Doc Ophthalmol 114(1):21–26

    Article  PubMed  Google Scholar 

  16. Arden GB, Gorin MB, Polkinghorne PJ, Jay M, Bird AC (1988) Detection of the carrier state of x-linked retinoschisis. Am J Ophthalmol 105(6):590–595

    Article  CAS  PubMed  Google Scholar 

  17. Jay B (1985) X-linked retinal disorders and the lyon hypothesis. Trans Ophthalmol Soc U K 104(Pt 8):836–844

    PubMed  Google Scholar 

  18. Krill AE (1969) X-chromosomal-linked diseases affecting the eye: Status of the heterozygote female. Trans Am Ophthalmol Soc 67:535–608

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Lyon MF (1962) Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14:135–148

    CAS  PubMed  PubMed Central  Google Scholar 

  20. McAnany JJ, Park JC, Cao D (2015) Rod- and cone-isolated flicker electroretinograms and their response summation characteristics. Vis Neurosci 32:E018

    Article  PubMed  Google Scholar 

  21. McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) Iscev standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130(1):1–12

    Article  PubMed  Google Scholar 

  22. McAnany JJ, Nolan PR (2014) Changes in the harmonic components of the flicker electroretinogram during light adaptation. Doc Ophthalmol 129(1):1–8

    Article  PubMed  Google Scholar 

  23. Park JC, Cao D, Collison FT, Fishman GA, McAnany JJ (2015) Rod and cone contributions to the dark-adapted 15-hz flicker electroretinogram. Doc Ophthalmol 130(2):111–119

    Article  PubMed  PubMed Central  Google Scholar 

  24. Cao D, Pokorny J, Grassi MA (2011) Isolated mesopic rod and cone electroretinograms realized with a four-primary method. Doc Ophthalmol 123(1):29–41

    Article  PubMed  PubMed Central  Google Scholar 

  25. Meigen T, Bach M (1999) On the statistical significance of electrophysiological steady-state responses. Doc Ophthalmol 98(3):207–232

    Article  CAS  PubMed  Google Scholar 

  26. Kremers J, Scholl HP (2001) Rod-/l-cone and rod-/m-cone interactions in electroretinograms at different temporal frequencies. Vis Neurosci 18(3):339–351

    CAS  PubMed  Google Scholar 

  27. Arden GB, Hogg CR (1985) Rod-cone interactions and analysis of retinal disease. Br J Ophthalmol 69(6):404–415

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Arden GB, Frumkes TE (1986) Stimulation of rods can increase cone flicker ergs in man. Vis Res 26(5):711–721

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This research was supported by National Institutes of Health Research Grants R00EY019510 (JM), P30EY001792 (UIC core Grant), an unrestricted departmental Grant from Research to Prevent Blindness, the Pangere Family Foundation, and the Grousbeck Family Foundation (GAF and EMS).

Funding

The National Institutes of Health, Research to Prevent Blindness, the Pangere Family Foundation, and the Grousbeck Family Foundation provided financial support in the form of funding. The sponsors had no role in the design or conduct of this research.

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, 1855 W. Taylor St., Chicago, IL, 60612, USA

    J. Jason McAnany, Jason C. Park & Gerald A. Fishman

  2. Department of Psychology, University of Illinois at Chicago, 1007 W. Harrison St., Chicago, IL, 60612, USA

    J. Jason McAnany

  3. Department of Bioengineering, University of Illinois at Chicago, 851 South Morgan St., Chicago, IL, 60607, USA

    J. Jason McAnany

  4. The Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, Chicago, IL, USA

    Frederick T. Collison & Gerald A. Fishman

  5. Stephen A. Wynn Institute for Vision Research, Department Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, USA

    Edwin M. Stone

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  1. J. Jason McAnany
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  2. Jason C. Park
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Correspondence to J. Jason McAnany.

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All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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McAnany, J.J., Park, J.C., Collison, F.T. et al. Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis. Doc Ophthalmol 133, 61–70 (2016). https://doi.org/10.1007/s10633-016-9551-0

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  • DOI: https://doi.org/10.1007/s10633-016-9551-0

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