Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
+44 1223 790975
ISSN: 2155-9570
+44 1223 790975
Department of Pediatrics, Reference Centre of Inherited Metabolic Diseases, Sao Joao University Hospital Center, Porto, Portugal
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