![](/f/f/e5836b790fd605a03ec7594b10123484.jpg)
Current issue
Archive
Videos
Articles in press
About the journal
Supplements
Editorial board
Reviewers
Abstracting and indexing
Subscription
Contact
Instructions for authors
Publication charge
Ethical standards and procedures
Editorial System
Submit your Manuscript
|
abstract:
Review article
Mucopolysaccharidosis in children as seen through the eyes of an ophthalmologist
Mirosława Grałek
1
KLINIKA OCZNA 2024, 126
Online publish date: 2024/07/09
View
full text
Get citation
ENW EndNote
BIB JabRef, Mendeley
RIS Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
Mucopolysaccharidosis is a rare, genetically determined metabolic disease. It arises from abnormalities related to the absence or deficiency of lysosomal enzymes needed to break down glycosaminoglycans. Glycosaminoglycans are involved in the metabolic processes of living organisms. Disturbances in lysosomal metabolism causes their accumulation in body tissues and organs, accompanied by pathological symptoms including characteristic general and visual changes. There is no causal (genetic) therapy for mucopolysaccharidosis. Treatment is exclusively symptomatic. Available therapeutic modalities include enzyme replacement therapy and bone marrow transplantation. Ophthalmological treatment comprises correction of refractive errors and other conservative and surgical methods aimed to improve the ocular condition.
keywords:
etiology of the disease, general and ocular symptoms, laboratory diagnostics, enzyme replacement therapy, bone narrow transplantation, ophthalmological management |
|