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

Tzetzi, D., Hamilton, R. , Robinson, P.H. and Dutton, G.N. (2007) Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes. Documenta Ophthalmologica, 114(3), pp. 153-158. (doi: 10.1007/s10633-007-9047-z) (PMID:17464575)

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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.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Hamilton, Dr Ruth and Dutton, Dr Gordon
Authors: Tzetzi, D., Hamilton, R., Robinson, P.H., and Dutton, G.N.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Documenta Ophthalmologica
ISSN (Online):1573-2622
Published Online:16 February 2007

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