Journal of Clinical and Experimental Ophthalmology
Open Access

Department of Ophthalmology, Sao Joao University Hospital Center, Porto, Portugal

Publications

• Case Report   
  Retinal Changes in Patients with Type 1 and Type 2 Mucopolysaccharidosis
  Author(s): Augusto Magalhaes, Joana Santos-Oliveira*, Ana Maria Cunha, Susana Penas, Manuel Falcao, Angela Carneiro, Elisa Leao-Teles, Esmeralda Rodrigues and Fernando Falcao-Reis
  
  Purpose: Mucopolysaccharidosis (MPS) are a group of lysosomal storage disorders caused by inborn Glycosaminoglycans (GAG) metabolism errors. In both MPS type I and II there is an accumulation of heparan sulfate and dermatan sulfate. This work aims to describe retinal findings in patients with MPS I and MPS II. A cross-sectional case study including 2 patients with MPS I (patients 1 and 2) and 1 patient with MPS II (patient 3) was performed. A multimodal imaging was performed using color fundus photography, Spectral Domain Optical Coherence Tomography (SD-OCT) and Near-Infrared Reflectance (NIR) imaging. Case presentation: Patient 1, with Hurler syndrome presented in the SD-OCT, an increased thickness of the hyper reflective band of the External Limiting Membrane (ELM) in the foveal area. In the parafoveal and perifoveal regions, SD-OCT display.. View More»
  DOI: 10.35248/2155-9570.24.15.979

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