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Early diagnosis of Stargardt disease with multifocal electroretinogram in children

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Abstract

To present two pediatric cases where multifocal electroretinogram (mfERG) was able to establish an earlier diagnosis compared to full field electroretinogram (ERG) Case 1: an 11-year-old boy with reduced visual acuity, pale discs, macular pigmentation with white dots bilaterally. Case 2: a 12-year-old girl with reduced vision in her right eye, slight pallor of the right optic disc, intense pigmentation at both maculae and scattered punctate lesions throughout the peripheral fundi. Both had been investigated with electrodiagnostic tests according to the International Society of Clinical Electrophysiology for Vision protocol. Full-field ERGs for both children showed normal responses. Case 1: mfERG revealed a severe reduction in function in the inner 20°. Case 2: mfERG showed attenuated responses in each eye. Clinical examination and mfERG were consistent with Stargardt disease. mfERG is applicable to children and is a sensitive tool for early diagnosis of retinal dystrophies.

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Abbreviations

EDTs:

Electrodiagnostic tests

EOG:

Electrooculogram

ERG:

Electroretinogram

FVEPs:

Flash visual evoked potentials

FAF:

Fundus autofluorescence

FFA:

Fundus fluorescein angiography

ISCEV:

International Society of Clinical Electrophysiology of Vision

mfERG:

Multifocal electroretinogram

PERGs:

Pattern electroretinograms

PRVEP:

Pattern-reversal visual evoked potentials

RPE:

Retinal pigment epithelium

SNR:

Signal-to-noise ratio

STGD:

Stargardt disease

References

  1. Stargardt K (1909) Ueber familiare degeneration in der Maculagegend des Auges. Graefes Arch Clin Exp Ophthalmol 71:534

    Article  Google Scholar 

  2. Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt;s disease gene ABCR. Hum Mol Genet 7:355–362

    Article  CAS  PubMed  Google Scholar 

  3. Genead MA, Fishman GA, Stone EM, Allikmets R (2009) The natural history of Stargardt disease with specific mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci 50:5867–5871

    Article  PubMed  Google Scholar 

  4. Sutter EE, Tran D (1992) The field topography of ERG components in man—I. The photopic luminance response. Vis Res 32:433–446

    Article  CAS  PubMed  Google Scholar 

  5. Hood DC, Odel JG, Chen CS, Winn BJ (2003) The multifocal electroretinogram. J Neuroophthalmol 23:225–235

    Article  PubMed  Google Scholar 

  6. Lyons JS, Severns ML (2009) Using multifocal ERG ring ratios to detect and follow Plaquenil retinal toxicity: a review: review of mfERG ring ratios in Plaquenil toxicity. Doc Ophthalmol 118:29–36

    Article  PubMed  Google Scholar 

  7. Holder GE, Brigell MG, Hawlina M, Meigen T, Vaegan, Bach M (2007) International Society for Clinical Electrophysiology of Vision. ISCEV standard for clinical pattern electroretinography—2007 update. Doc Ophthalmol 114:111–116

    Article  PubMed Central  PubMed  Google Scholar 

  8. Hood DC, Bach M, Brigell M, Keating D, Kondo M, Lyons JS, Palmowski-Wolfe AM (2008) ISCEV guidelines for clinical multifocal electroretinography (2007 edition). Doc Ophthalmol 116:1–11

    Article  PubMed Central  PubMed  Google Scholar 

  9. Marmor MF, Brigell MG, McCulloch DL, Westall CA, Bach M (2011) International Society for Clinical Electrophysiology of Vision. ISCEV standard for clinical electro-oculography (2010 update). Doc Ophthalmol 122:1–7

    Article  PubMed  Google Scholar 

  10. Fulton AB, Brecelj J, Lorenz B, Moskowitz A, Thompson D, Westall CA (2006) ISCEV Committee for Pediatric Clinical Electrophysiology Guidelines. Pediatric clinical visual electrophysiology: a survey of actual practice. Doc Ophthalmol 113:193–204

    Article  PubMed  Google Scholar 

  11. Hagan RP, Fisher AC, Brown MC (2006) Examination of short binary sequences for mfERG recording. Doc Ophthalmol 113:21–27

    Article  PubMed  Google Scholar 

  12. Kriss A (1994) Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode. Int J Psychophysiol 16:137–146

    Article  CAS  PubMed  Google Scholar 

  13. Esakowitz L, Kriss A, Shawkat F (1993) A comparison of flash electroretinograms recorded from Burian Allen, JET, C-glide, gold foil, DTL and skin electrodes. Eye 7:169–171

    Article  PubMed  Google Scholar 

  14. Chen Y, Roorda A, Duncan JL (2010) Advances in imaging of Stargardt disease. Adv Exp Med Biol 664:333–340

    Article  CAS  PubMed  Google Scholar 

  15. Cideciyan AV, Swider M, Aleman TS et al (2012) Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Invest Ophthalmol Vis Sci 53:841–852

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  16. Oh KT, Weleber RG, Stone EM, Oh DM, Rosenow J, Billingslea AM (2004) Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. Retina 24:920–928

    Article  PubMed  Google Scholar 

  17. Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC (2001) Phenotypic subtypes of Stargardt macular dystrophy–fundus flavimaculatus. Arch Ophthalmol 119:359–369

    Article  CAS  PubMed  Google Scholar 

  18. Lenassi E, Jarc-Vidmar M, Glavac D, Hawlina M (2009) Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease. Br J Ophthalmol 93:1600–1605

    Article  CAS  PubMed  Google Scholar 

  19. Lai TY, Chan WM, Lai RY, Ngai JW, Li H, Lam DS (2007) The clinical applications of multifocal electroretinography: a systematic review. Surv Ophthalmol 52:61–96

    Article  PubMed  Google Scholar 

  20. Huang S, Wu D, Jiang F et al (2000) The multifocal electroretinogram in age-related maculopathies. Doc Ophthalmol 101:115–124

    Article  CAS  PubMed  Google Scholar 

  21. Scholl HP, Kremers J (2003) L- and M-cone driven large-field and multifocal electroretinograms in sector retinis pigmentosa. Doc Ophthalmol 106:171–181

    Article  PubMed  Google Scholar 

  22. Cheung MC, Nune GC, Wang M et al (2004) Detection of localised retinal dysfunction in a choroideremia carrier. Am J Ophthalmol 137:189–191

    Article  PubMed  Google Scholar 

  23. Lai TY, Chan WM, Li H (2005) Multifocal electroretinographic changes in patients receiving hydroxychloroquine therapy. Am J Ophthalmol 140:794–807

    Article  PubMed  Google Scholar 

  24. Horio N, Horiguchi M (2004) Effect on visual outcome after macular hole surgery when staining the internal limiting membrane with indocyanine green. Arch Ophthalmol 122:992–996

    Article  PubMed  Google Scholar 

  25. Tosha C, Gorin MB, Nusinowitz S (2010) Test–retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease. Curr Eye Res 35:63–72

    Article  PubMed  Google Scholar 

  26. Hagan RP, Small A, Fisher AC, Brown MC (2010) Can central hexagon peak latency provide a clue to fixation with the mfERG. Doc Ophthalmol 120:159–164

    Article  CAS  PubMed  Google Scholar 

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Conflict of interest

No authors have any financial/proprietary interests to disclose.

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Authors and Affiliations

  1. Department of Paediatric Ophthalmology, Alder Hey Children’s NHS Foundation Trust, Eaton Road, Liverpool, L12 2AP, UK

    Anna Praidou, Richard Hagan, William Newman & Arvind Chandna

Authors
  1. Anna Praidou
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  2. Richard Hagan
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  3. William Newman
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  4. Arvind Chandna
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Correspondence to Anna Praidou.

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Praidou, A., Hagan, R., Newman, W. et al. Early diagnosis of Stargardt disease with multifocal electroretinogram in children. Int Ophthalmol 34, 613–621 (2014). https://doi.org/10.1007/s10792-013-9812-9

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  • DOI: https://doi.org/10.1007/s10792-013-9812-9

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