Skip to main content

Advertisement

SpringerLink
Log in

Electrophysiological testing as a method of cone–rod and cone dystrophy diagnoses and prediction of disease progression

  • Original Research Article
  • Published:
Documenta Ophthalmologica Aims and scope Submit manuscript

Abstract

Purpose

To determine the characteristics of patients with cone (CD) and cone–rod dystrophies (CRD) and to evaluate the changes in flash electroretinograms in both groups.

Methods

The retrospective study involved 48 patients—34 with CRD and 14 with CD. The patients underwent full ophthalmological examination, including Goldmann perimetry and full-field flash electroretinogram (FERG) within the initial examination. These examinations were then repeated seven, or more, years later. The longest follow-up period was 10 years, with the mean at 8.2 years. During both examinations, we assessed the amplitudes of the b wave in the scotopic ERG test 0.01 (which reflects rod response), the maximal scotopic ERG test 3.0 (which reflects cone and rod response) and the photopic 3.0 ERG test (which reflects cone response). The results were then compared against normal values.

Results

The progression over time of ERG b wave amplitudes in the scotopic ERG 0.01, maximal scotopic ERG 3.0 and photopic ERG tests was assessed. There were significant differences in rod, maximal and cone responses, between CD and CRD patients. While rod responses were markedly decreased in CRD patients during their initial examination, the decrease in the rod function in both CD and CRD patients was similar in their follow-up examination (p = 0.2398). Moreover, during initial examination, maximal responses were less common amongst CRD patients, over those with CD. Following the observation period, patients suffering from CRD exhibited a significant decrease in both maximal (p = 0.0125) and cone (p = 0.0046) responses.

Conclusion

The clinical course of CRD and CD may vary; however, the latter appears to have a more favourable course than former. Although, at initial examination, the cone function was more diminished in CD patients, the final examinations reveal a more significant drop for CRD patients. Consequently, a differential diagnosis is essential for treating patients and forecasting their disease progression.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Hamel CP (2007) Cone rod dystrophies. Orphanet J Rare Dis 2:7

    Article  PubMed Central  PubMed  Google Scholar 

  2. Goodman G, Ripps H, Siegel IM (1963) Cone dysfunction syndromes. Arch Ophthalmol 70:214–231

    Article  CAS  PubMed  Google Scholar 

  3. Gregory-Evans K, Fariss RN et al (1998) Abnormal cone synapses in human cone–rod dystrophy. Ophthalmology 105:2306–2312

    Article  CAS  PubMed  Google Scholar 

  4. Michaelides M, Hardcastle AJ et al (2006) Progressive cone and cone–rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol 51(3):232–258

    Article  PubMed  Google Scholar 

  5. Sadowski B, Zrenner E (1997) Cone and rod function in cone degenerations. Vis Res 37:2303–2314

    Article  CAS  PubMed  Google Scholar 

  6. Thiadens A, Soerjoesing G, Florijn R, Tjiam A et al (2011) Clinical course of cone dystrophy caused by mutations in the RPGR gene. Graefes Arch Clin Exp Ophthalmol 249:1527–1535

    Article  PubMed Central  PubMed  Google Scholar 

  7. Sakuramoto H, Kuniyoshi K, Tsunoda K, Ahahori M et al (2013) Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration. Clin Ophthalmol 7:1703–1711

    Article  PubMed Central  PubMed  Google Scholar 

  8. Thiadens A, Phan TM, Zekveld-Vroon RC, Leroy BP et al (2012) Clinical course, genetic etiology and visual outcome in cone and cone–rod dystrophy. Ophthalmology 119:819–826

    Article  PubMed  Google Scholar 

  9. Langwińska-Wośko E, Szulborski K, Broniek-Kowalik K (2010) Late-onset cone dystrophy. Doc Ophthalmol 120(3):215–218

    Article  PubMed  Google Scholar 

  10. Yokochi M, Li D, Horiguchi M, Kishi S (2012) Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone–rod dystrophy. Doc Ophthalmol 125:211–218

    Article  PubMed Central  Google Scholar 

  11. Kamenarova K, Corton M, García-Sandoval B, Fernández-San Jose P et al (2013) Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. Biomed Res Int 2013:517–570

  12. Michaelides M, Wilkie SE, Jenkins S et al (2005) Mutation in the gene GCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone–rod, and macular dystrophy. Ophthalmology 112(8):1442–1447

    Article  PubMed  Google Scholar 

  13. Michelides M, Hunt DM, Moore AT (2004) The cone dysfunction syndromes. Br J Ophthalmol 88:291–297

    Article  Google Scholar 

  14. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2009) ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118(1):69–77

    Article  CAS  PubMed  Google Scholar 

  15. Galli-Resta L, Piccardi M, Ziccardi L et al (2013) Early detection of central visual function decline in cone–rod dystrophy by the use of macular focal cone electroretinogram. Investig Ophth Vis Sci 54:6560–6568

    Article  Google Scholar 

  16. Traboulsi EI (1998) Cone dystrophy. In: Traboulsi EI (ed) Genetic diseases of the eye. Oxford University Press, New York, pp 358–359

Download references

Conflict of interest

The authors had no financial or proprietary interest in any of the products, materials or methods mentioned.

Author information

Authors and Affiliations

  1. Ophthalmology Department, Warsaw Medical University, 13 Sierakowskiego Street, 03-709, Warsaw, Poland

    Ewa Langwińska-Wośko, Kamil Szulborski, Anna Zaleska-Żmijewska & Jerzy Szaflik

Authors
  1. Ewa Langwińska-Wośko
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kamil Szulborski
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Anna Zaleska-Żmijewska
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jerzy Szaflik
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kamil Szulborski.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Langwińska-Wośko, E., Szulborski, K., Zaleska-Żmijewska, A. et al. Electrophysiological testing as a method of cone–rod and cone dystrophy diagnoses and prediction of disease progression. Doc Ophthalmol 130, 103–109 (2015). https://doi.org/10.1007/s10633-015-9479-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10633-015-9479-9

Keywords

Search

Navigation