title: Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
authors.affiliation: Center for Clinical Specialty, Department of Ophthalmology, National Cancer Center, Goyang, Republic of Korea.
authors.forename: Susie
authors.initials: S
authors.lastname: Seok
authors.affiliation: Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Kangnam-gu, Seoul, Republic of Korea.
authors.forename: In Jeong
authors.initials: IJ
authors.lastname: Lyu
authors.affiliation: Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Kangnam-gu, Seoul, Republic of Korea.
authors.forename: Kyung Ah
authors.initials: KA
authors.lastname: Park
authors.affiliation: Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Kangnam-gu, Seoul, Republic of Korea. lethe22@paran.com.
authors.forename: Sei Yeul
authors.initials: SY
authors.lastname: Oh
mesh_terms: D000293:Adolescent; D002648:Child; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000503:physiopathology; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000503:physiopathology; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000503:physiopathology; D011446:Prospective Studies; D012160:Retina / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult
keywords: Mucopolysaccharidoses; Optical coherence tomography; Pigmentary retinopathy; Retinal layer thickness