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Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A

  • Retinal Disorders
  • Published:
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Abstract

Purpose

The purpose of this study was to describe the spectral domain optical coherence tomography (SD-OCT) characteristics of patients with retinal manifestations of mucopolysaccharidoses (MPSs) I, II, and IV A.

Design

The research was a prospective, observational study.

Methods

Fourteen consecutive patients with variants of MPS and 15 healthy subjects underwent ophthalmic assessments including fundus examinations and SD-OCT.

Results

The fundus examinations revealed that four patients (two MPS I and two MPS II) had pigmented retinopathy in both eyes. In addition, one MPS II patient had cystoid macular edema and two MPS II patients had abnormal disc morphology. SD-OCT revealed thinning of the parafoveal photoreceptor inner segment/outer segment (IS/OS; two MPS I and one MPS II) and perifoveal photoreceptor IS/OS (two MPS I and five MPS II). All MPS I and II patients exhibited thickening of the central foveal external limiting membrane (ELM). Fundus and SD-OCT findings were normal in MPS IV A and healthy subjects. The foveal ELM was significantly thicker in MPS I and II patients than in healthy subjects (P =0 .000 and P =0 .000, respectively). The foveal IS/OS was significantly thinner in MPS I, II, and IV A patients than in healthy subjects (P = 0.000, P = 0.000, and P = 0.030, respectively). The foveal retinal pigment epithelium layer was also thinner in MPS II patients than in healthy subjects (P = 0.007)

Conclusions

In MPS, accumulation of glycosaminoglycans in retinal tissue induced retinal degeneration and pigmentary retinopathy. SD-OCT was a useful tool for detecting retinal pathology, particularly changes in ELM and IS/OS.

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Conflict of interest

The authors have no conflicts of interest to declare for this submission. No external financial support was received for this study.

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Authors and Affiliations

  1. Center for Clinical Specialty, Department of Ophthalmology, National Cancer Center, Goyang, Republic of Korea

    Susie Seok

  2. Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Kangnam-gu, Seoul, Republic of Korea

    In Jeong Lyu, Kyung Ah Park & Sei Yeul Oh

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  1. Susie Seok
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  2. In Jeong Lyu
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Correspondence to Sei Yeul Oh.

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Seok, S., Lyu, I.J., Park, K.A. et al. Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A. Graefes Arch Clin Exp Ophthalmol 253, 2111–2119 (2015). https://doi.org/10.1007/s00417-015-2953-y

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  • DOI: https://doi.org/10.1007/s00417-015-2953-y

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