Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits

Introduction: Mucopolysaccharidosis type VI (MPS VI) is a rare inherited metabolic disorder, primarily attributed to the deficiency of the enzyme N-acetylgalactosamine-4-sulfatase, responsible for the degradation of dermatan sulfate and chondroitin-4-sulfate. Therefore, there is a widespread accumul...

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Bibliographic Details
Main Authors: Augusto Magalhães, Margarida Ribeiro, Jorge Meira, Ana Filipa Moleiro, Esmeralda Rodrigues, Elisa Leão-Teles
Format: Article
Language:English
Published: Karger Publishers 2024-08-01
Series:Case Reports in Ophthalmology
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Online Access:https://beta.karger.com/Article/FullText/540015