Skip to main content
SpringerLink
Log in

Negative ERGs in mucopolysaccharidoses (MPS) Hurler–Scheie (I-H/S) and Hurler (I-H)-syndromes

  • Clinical Case Reports
  • Published:
Documenta Ophthalmologica Aims and scope Submit manuscript

Abstract

The configuration and progression of the ERG in two children with mucopolysaccharidosis (MPS) I H/S (Hurler–Scheie syndrome) and MPS I H (Hurler syndrome) is described. Physical examination, biochemical analysis, ophthalmic examination and electroretinography were performed. The Hurler–Scheie patient (case 1) showed negative scotopic but normal photopic ERGs, which remained unchanged over 2 years. The Hurler patient (case 2) showed negative scotopic and photopic ERGs which did not alter after bone marrow transplantation (BMT). One year after BMT, further b-wave amplitude reduction had caused the ERGs to become more negative. The electronegative configuration of the ERGs suggests that, in these cases of MPS, the primary retinal abnormality in MPS I may be faulty synaptic transmission from photoreceptors to more proximal elements, deficient bipolar responsivity, or Muller cell disease. Further degradation with time suggests the defect to be progressive with BMT causing little or no improvement. In the Hurler–Scheie syndrome case, the defect appears to spare the cone system and to show little or no 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

Notes

  1. To maximise the chance of obtaining ERG data from unsedated infants and children, our clinical protocols include both full-field and hand-held Grass flash stimulation with normative data for both. In adult comparisons, ERGs using the full-field stimulus show larger amplitudes (despite the lower luminance, 2.5 phot cd s m−2 compared to 11.8 phot cd s m−2), particularly for the b-wave.

Abbreviations

BMT:

Bone marrow transplant

GAG:

Glycosaminoglycans

MPS:

Mucopolysaccharidoses

References

  1. Kliegman RM, Muenzer JL (2004) Mucopolysaccharidoses. In: Behram RE, Kliegman RM, Jenson HB (eds) Nelson textbook of pediatrics. W.B. Saunders Company Philadelphia, pp 482–486

    Google Scholar 

  2. Taylor D (1997) Neurometabolic disease. In: Taylor D (ed) Paediatric ophthalmology. Blackwell Science Ltd Oxford, pp 772–793

    Google Scholar 

  3. Jensen OA, Pedersen C, Vestermark S, Warburg M (1980) The Hurler/Scheie phenotype in children from a consanguineous marriage: case report with electronmicroscopy of the conjunctiva and ERG. Metab Pediatr Ophthalmol 4:133–134

    PubMed  CAS  Google Scholar 

  4. Caruso RC, Kaiser-Kupfer MI, Muenzer J, Ludwig IH, Zasloff MA, Mercer PA (1986) Electroretinographic findings in the mucopolysaccharidoses. Ophthalmology 93:1612–1616

    PubMed  CAS  Google Scholar 

  5. Gullingsrud EO, Krivit W, Summers CG (1998) Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Ophthalmology 105:1099–1105

    Article  PubMed  CAS  Google Scholar 

  6. Gills JP, Hobson R, Hanley WB, McKuisick VA (1965) Electroretinography and fundus oculi findings in Hurler’s disease and allied mucopolysaccharidoses. Arch Ophthalmol 74:596–603

    PubMed  CAS  Google Scholar 

  7. François J, de Rouck A (1960) L’électro-rétino-encéphalographie dans la maladie de Hurler. Ophthalmologica 139:45–55

    Article  PubMed  Google Scholar 

  8. Bradnam MS, Evans AL, Montgomery DMI, Keating D, Damato BE, Cluckie A et al (1994) A personal computer-based visual evoked potential stimulus and recording system. Doc Ophthalmol 86:81–93

    Article  PubMed  CAS  Google Scholar 

  9. Cideciyan AV, Jacobson SG (1993) Negative electroretinograms in retinitis pigmentosa. Invest Ophthalmol Vis Sci 34:3253–3263

    PubMed  CAS  Google Scholar 

  10. Fujii N, Shiono T, Wada Y, Nakazawa M, Tamia M, Yamada N (1995) Autosomal dominant rod-cone dystrophy with negative electroretinogram. Br J Ophthalmol 79:916–921

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  13. Miyake Y, Yagasaki K, Moriguchi M, Kawase Y, Kanda T (1986) Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol 104:1013

    PubMed  CAS  Google Scholar 

  14. Karpe G, Uchermann A (1955) The clinical electroretinogram. IV. The electroretinogram in circulatory disturbances of the retina. Acta Ophthalmol 33:493–516

    Article  CAS  Google Scholar 

  15. Priem HA, de Rouck A, De Laey JJ, Bird AC (1988) Electrophysiologic studies in birdshot chorioretinopathy. Am J Ophthalmol 106:430–436

    PubMed  CAS  Google Scholar 

  16. Berson EL, Lessell S (1988) Paraneoplastic night blindness with malignant melanoma. Am J Ophthalmol 106:307–311

    Article  PubMed  CAS  Google Scholar 

  17. Weleber RG (1998) The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye 12(3b):580–590

    PubMed  Google Scholar 

  18. Koh AHC, Hogg CR, Holder GE (2001) The incidence of negative ERG in clinical practice. Doc Ophthalmol 102:19–30

    Article  PubMed  CAS  Google Scholar 

  19. Summers CG, Whitley CB, Holland EJ, Purple RL, Krivit W (1994) Dense peripheral corneal clouding in Scheie syndrome. Cornea 13:277–279

    Article  PubMed  CAS  Google Scholar 

  20. Gills JP, Hobson R, Hanley WB, McKusick VA (1965) Electroretinography and fundus oculi findings in Hurler’s disease and allied mucopolysaccharidoses. Arch Ophthalmol 74:596–603

    PubMed  CAS  Google Scholar 

  21. Bredehorn T, Clausen M, Duncker G, Lullmann-Rauch R (2001) Morphological and functional changes due to drug-induced lysosomal storage of sulphated glycosaminoglycans in the rat retina. Graefes Arch Clin Exp Ophthalmol 239(10):788–793

    PubMed  CAS  Google Scholar 

  22. Pradhan SM, Atchaneeyasakul L-O, Appukuttan B, Mixon RN, McFarland TJ, Billingslea AM et al (2002) Electronegative electroretinogram in mucolipidosis IV. Arch Ophthalmol 120:45–50

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    D. Tzetzi

  2. Department of Clinical Physics, Royal Hospital for Sick Children, Dalnair Street, Glasgow, G3 8SJ, UK

    R. Hamilton

  3. University of Glasgow, Glasgow, UK

    R. Hamilton & P. H. Robinson

  4. Department of Metabolic Medicine, Royal Hospital for Sick Children, Glasgow, UK

    P. H. Robinson

  5. Department of Ophthalmology, Royal Hospital for Sick Children, Glasgow, UK

    G. N. Dutton

  6. Department of Vision Science, Glasgow Caledonian University, Glasgow, UK

    G. N. Dutton

Authors
  1. D. Tzetzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Hamilton
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. H. Robinson
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. G. N. Dutton
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R. Hamilton.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tzetzi, D., Hamilton, R., Robinson, P.H. et al. Negative ERGs in mucopolysaccharidoses (MPS) Hurler–Scheie (I-H/S) and Hurler (I-H)-syndromes. Doc Ophthalmol 114, 153–158 (2007). https://doi.org/10.1007/s10633-007-9047-z

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10633-007-9047-z

Keywords

Search

Navigation