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Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children

  • Clinical Investigation
  • Published:
Japanese Journal of Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

To report the diagnosis of three childhood patients with blue-cone monochromatism (BCM) using S-cone electroretinograms (ERG) recorded with RETeval® Complete.

Study design

Prospective clinical study.

Methods

We examined three boys initially suspected of having rod monochromatism. S-cone ERG was performed with red background and blue flashed light stimulation using two different intensities: 0.25 cd × s/m2 and 1 cd × s/m2.

Results

Case 1 was a 12-year-old boy with a visual acuity of 0.1 OU. Case 2 was an 8-year-old boy with a visual acuity of 0.3 OD and 0.2 OS. Both cases showed a myopic fundus and nystagmus without any other ocular abnormalities. Case 3 was a 6-year-old boy with a visual acuity of 0.3 OD and 0.4 OS. He also showed myopic fundus changes, but nystagmus was not observed. Rod and maximal responses recorded with RETeval® were likely to be within normal range; however, cone responses were absent in all cases. S-cone ERGs showed positive responses at 40 ms with 0.25 cd × s/m2 intensity in Case 2, and at approximately 30–40 ms with 1.0 cd × s/m2 intensity in all three cases. These ERG findings led to a diagnosis of BCM.

Conclusions

S-cone ERG of RETeval® was helpful in diagnosing with minimal invasion BCM in childhood patients.

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References

  1. Alpern M, Lee GB, Maaseidvaag F, Miller SS. Colour vision in blue-cone ‘monochromacy.’ J Physiol. 1971;212:211–33.

    Article  CAS  Google Scholar 

  2. Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, et al. Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials. PLoS ONE. 2015;10:e0125700. https://doi.org/10.1371/journal.pone.0125700.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Terasaki H, Miyake Y. Japanese family with blue cone monochromatism. Jpn J Ophthalmol. 1992;36:132–41.

    CAS  PubMed  Google Scholar 

  4. Terasaki H, Miyake Y. Association of acquired color vision defects in blue cone monochromatism. Jpn J Ophthalmol. 1995;39:55–9.

    CAS  PubMed  Google Scholar 

  5. Weiss AH, Biersdorf WR. Blue cone monochromatism. J Pediatr Ophthalmol Strabismus. 1989;26:218–23.

    CAS  PubMed  Google Scholar 

  6. Buena-Atienza E, Nasser F, Kohl S, Wissinger B. A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. BMC Med Genet. 2018;19:107.

    Article  Google Scholar 

  7. Sumaroka A, Garafalo AV, Cideciyan AV, Charng J, Roman AJ, Choi W, et al. Blue cone monochromacy caused by the C203R missense mutation or large deletion mutations. Invest Ophthalmol Vis Sci. 2018;59:5762–72.

    Article  CAS  Google Scholar 

  8. Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, et al. Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy. Sci Rep. 2018;8:1–10. https://doi.org/10.1038/s41598-018-29891-9.

    Article  CAS  Google Scholar 

  9. Wang C, Hosono K, Kachi S, Suto K, Nakamura M, Terasaki H, et al. Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. Hum Genome Var. 2016;3:16011.

    Article  Google Scholar 

  10. McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, et al. ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol. 2015;130:1–12.

    Article  Google Scholar 

  11. Osigian CJ, Grace SF, Cavuoto KM, Feuer WJ, Tavakoli M, Saksiriwutto P, et al. Assessing nonsedated handheld cone flicker electroretingram as a screening test in pediatric patients: comparison to sedated conventional flicker electroretinogram. J AAPOS. 2019;23:34.e1-34.e5.

    Article  Google Scholar 

  12. Hobby AE, Kozareva D, Yonova-Doing E, Hossain IT, Katta M, Huntjens B, et al. Effect of varying skin surface electrode position on electroretinogram responses recorded using a handheld stimulating and recording system. Doc Ophthalmol. 2018;137:79–86.

    Article  Google Scholar 

  13. Kato K, Kondo M, Sugimoto M, Ikesugi K, Matsubara H. Effect of pupil size on flicker ERGs recorded with RETeval system: new mydriasis-free full-field ERG system. Invest Ophthalmom Vis Sci. 2015;56:3684–90.

    Article  CAS  Google Scholar 

  14. Marmor MF, Cabael L, Shukla S, Hwang JC, Marcus M. Clinical S-cone ERG recording with a commercial hand-held full-field stimulator. Doc Ophthalmol. 2004;109:101–7.

    Article  Google Scholar 

  15. Schatz A, Dominik Fischer M, Schommer K, Zrenner E, Bartz-Schmidt KU, Gekeler F, et al. Attenuation of S-cone function at high altitude assessed by electroretinography. Vis Res. 2014;97:59–64.

    Article  Google Scholar 

  16. Perlman I, Kondo M, Chelva E, Robson AG, Holder GE. ISCEV extended protocol for the S-cone ERG. Doc Ophthalmol. 2020;140:95–101.

    Article  Google Scholar 

  17. Arden G, Wolf J, Berninger T, Hogg CR, Tzekov R, Holder GE. S-cone ERGs elicited by a simple technique in normals and in tritanopes. Vis Res. 1999;39:641–50.

    Article  CAS  Google Scholar 

  18. Gouras P, MacKay CJ, Yamamoto S. The human S-cone electroretinogram and its variation among subjects with and without L and M-cone function. Invest Ophthalmol Vis Sci. 1993;34:2437–42.

    CAS  PubMed  Google Scholar 

  19. Sawusch M, Pokorny J, Smith VC. Clinical electroretinography for short wavelength sensitive cones. Invest Ophthalmol Vis Sci. 1987;28:966–74.

    CAS  PubMed  Google Scholar 

  20. Sustar M, Hawlina M, Brecelj J. Electroretinographic evaluation of the retinal S-cone system. Doc Ophthalmol. 2011;123:199–210.

    Article  Google Scholar 

  21. Bradshaw K, Hansen R, Fulton A. Comparison of ERGs recorded with skin and corneal-contact electrodes in normal children and adults. Doc Ophthalmol. 2004;109:43–55.

    Article  Google Scholar 

  22. Fulton AB, Brecelj J, Lorenz B, Moskowitz A, Thompson D, Westall CA. ISCEV Committee for Pediatric Clinical Electrophysiology Guidelines. Pediatric clinical visual electrophysiology: a survey of actual practice. Doc Ophthalmol. 2006;113:93.

    Article  Google Scholar 

  23. Grace SF, Lam BL, Feuer WJ, Osigian CJ, Cavuoto KM, Capo H. Nonsedated handheld electroretinogram as a screening test of retinal dysfunction in pediatric patients with nystagmus. J AAPOS. 2017;21:384–8.

    Article  Google Scholar 

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Acknowledgements

The authors would like to thank Editage (https://www.editage.jp//) for English language editing.

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Correspondence to Miho Sato.

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Conflicts of interest

T. Haseoka, None; R. Inagaki, None; K. Kurata, None; S. Arai, None; Y. Takagi, None; H. Suzuki, None; A. Hikoya, None; K. Nishimura, None; Y. Hotta, None; M. Sato, None.

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Corresponding Author: Miho Sato

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Haseoka, T., Inagaki, R., Kurata, K. et al. Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children. Jpn J Ophthalmol 65, 23–29 (2021). https://doi.org/10.1007/s10384-020-00782-9

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  • DOI: https://doi.org/10.1007/s10384-020-00782-9

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