Visual impairment in mucopolysaccharidosis VI

Visual impairment in mucopolysaccharidosis VI

Abstract Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (...

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Bibliographic Details
Main Authors: Augusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, Sérgio Castro, José Fonseca, Elisa Leão‐Teles
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:JIMD Reports
Subjects:
blindness
glaucoma
mucopolysaccharidosis VI
ocular involvement
optic neuropathy
posterior glaucoma
Online Access:https://doi.org/10.1002/jmd2.12351

Internet

https://doi.org/10.1002/jmd2.12351

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