Susie Seok1, In Jeong Lyu2, Kyung Ah Park2, Sei Yeul Oh3. 1. Center for Clinical Specialty, Department of Ophthalmology, National Cancer Center, Goyang, Republic of Korea. 2. Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Kangnam-gu, Seoul, Republic of Korea. 3. Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Kangnam-gu, Seoul, Republic of Korea. lethe22@paran.com.
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.
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 IIpatient had cystoid macular edema and two MPS IIpatients 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 IIpatients 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: Farzin Forooghian; Catherine Cukras; Catherine B Meyerle; Emily Y Chew; Wai T Wong Journal: Invest Ophthalmol Vis Sci Date: 2008-05-30 Impact factor: 4.799
Authors: Michael K Yoon; Royce W Chen; Thomas R Hedges; Vivek J Srinivasan; Iwona Gorczynska; James G Fujimoto; Maciej Wojtkowski; Joel S Schuman; Jay S Duker Journal: Ophthalmic Surg Lasers Imaging Date: 2007 Sep-Oct
Authors: S Omri; B Omri; M Savoldelli; L Jonet; B Thillaye-Goldenberg; G Thuret; P Gain; J C Jeanny; P Crisanti; Francine Behar-Cohen Journal: Clin Ophthalmol Date: 2010-04-26
Authors: R A Pearson; A C Barber; E L West; R E MacLaren; Y Duran; J W Bainbridge; J C Sowden; R R Ali Journal: Cell Transplant Date: 2010-01-20 Impact factor: 4.064
Authors: Augusto Magalhães; Ana Maria Cunha; Rodrigo Vilares-Morgado; Elisa Leão-Teles; Esmeralda Rodrigues; Manuel Falcão; Ângela Carneiro; Jorge Breda; Fernando Falcão-Reis Journal: Case Rep Ophthalmol Med Date: 2021-04-12
Authors: Christiane S Hampe; Julie B Eisengart; Troy C Lund; Paul J Orchard; Monika Swietlicka; Jacob Wesley; R Scott McIvor Journal: Cells Date: 2020-08-05 Impact factor: 6.600