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Macular Changes in a Mucopolysaccharidosis Type I Patient With Earlier Systemic Therapies

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source: Case Reports in Ophthalmological Medicine

year: 2021

authors: Magalhães A,Cunha AM,Vilares-Morgado R,Leão-Teles E,Rodrigues E,Falcão M,Carneiro Â,Breda J,Falcão-Reis F


To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). . We describe a case of a 12-year-old female with a biochemical and genetic diagnosis of MPS I. She underwent HSCT and ERT on the first year of life. The visual acuity was 5/10 in both eyes and she had bilateral grade 2 corneal haze. Spectral domain optical coherence tomography (SD-OCT) revealed thickening of the external limiting membrane (ELM) at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed a loss of the interdigitation, ellipsoid, and myoid zones and of the ELM accompanied by progressive thinning of the outer nuclear layer. Fundus infrared imaging revealed a hyperreflective ring centred on the fovea and hyporeflective areas in temporal parafoveal regions in both eyes. OCT imaging revealed two hyperreflective rings on the outer retinal level.

organization: Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal.

DOI: 10.1155/2021/8866837

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