Poster 56

by in  Poster Session 1

Electroretinographic and Optical Coherence Tomographic Characteristics of Mucopolysaccharidosis Type I Hurler and I Hurler-Scheie

Stephanie N. Kletke, MD; Ajoy Vincent, MD; Eoghan Millar, MBChB, FRCOphth; Asim Ali, MD, FRCSC
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children; Department of Ophthalmology and Vision Sciences, University of Toronto
Toronto, Ontario, Canada


Introduction: To describe the clinical, electroretinography (ERG) and spectral-domain optical coherence tomography (SD-OCT) findings in mucopolysaccharidosis (MPS) type I.

Methods: Fourteen children (50% female) with MPS I Hurler (I-H, n=11) and Hurler-Scheie (I-H/S, n=3) who had ERG and SD-OCT were identified and retrospectively reviewed.

Results: Diagnosis was confirmed by IDUA mutational analysis (n=9) or alpha-L-iduronidase deficiency (n=5). Children with MPS I-H had hematopoietic stem cell transplant (mean 1.22 years) and I-H/S received enzyme replacement (mean age 4.69 years). All children had diffuse ground glass stromal opacities, 9 requiring deep anterior lamellar keratoplasty. At the initial ERG (mean 10.10 years, range: 1.58 – 17.92), mean visual acuity was 0.70 logMAR (range: 0.3 – 1.6) and mean cycloplegic spherical equivalent was +1.79 D (range: -25.00 to +8.75). Mean initial standard flash b/a ratio was 1.13 (range: 0.37-3.58). Eleven cases had at least one electronegative ERG. Four children had maculopathy, but none showed peripheral pigmentary retinopathy. SD-OCT demonstrated central macular external limiting membrane (ELM) thickening in all cases.

Discussion: Corneal opacities and macular ELM thickening were found in all children with MPS I-H and I-H/S. Reduced b/a ratio was common at initial ERG and 79% had at least one electronegative ERG. Macular ELM thickening was observed prior to any clinically apparent retinal changes.

Conclusion: Despite systemic therapy, micro-structural and functional retinal changes are uniformly seen in MPS I prior to clinically apparent retinal changes. The presence of an electronegative ERG represents a post-transductional abnormality, which could be explained by ELM thickening.

References: 1. Caruso RC, Kaiser-Kupfer MI, Muenzer J et al. Electroretinographic findings in the mucopolysaccharidoses. Ophthalmology 1986;93(12):1612-6.
2.         Gullingsrud EO, Krivit W, Summers CG. Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up. Ophthalmology 1998;105(6):1099-105.
3.         Seok S, Lyu IJ, Park KA et al. Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A. Graefes Arch Clin Exp Ophthalmol 2015;253(12):2111-9.

Print Friendly, PDF & Email

Leave a Comment

Your email address will not be published. Required fields are marked *

Comment *