Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis

Mucopolysaccharidosis is a series of rare diseases where a lack of an enzyme affecting mucopolysaccharides metabolism in the patients′ lysosome induces the intracellular deposition of the mucopolysaccharides, and causes ocular and organ-related complications. Ocular complications included corneal op...

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Main Authors: SHI Meipan, SHI Caiping, DU Chixin
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2023-07-01
Series:罕见病研究
Subjects:
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.03.018
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author SHI Meipan
SHI Caiping
DU Chixin
author_facet SHI Meipan
SHI Caiping
DU Chixin
author_sort SHI Meipan
collection DOAJ
description Mucopolysaccharidosis is a series of rare diseases where a lack of an enzyme affecting mucopolysaccharides metabolism in the patients′ lysosome induces the intracellular deposition of the mucopolysaccharides, and causes ocular and organ-related complications. Ocular complications included corneal opacity, glaucoma, ametropia, strabismus, and chorioretinopathy. This review summarizes the mechanisms, clinical manifestations, specific ophthalmological examinations, and treatments for offering the ophthalmological knowledge to diagnose and begin treatment earlier.
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publisher Editorial Office of Journal of Rare Diseases
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spelling doaj.art-8d447e76524b47e68511e7106e8ee49b2024-01-02T05:51:09ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012023-07-012345045410.12376/j.issn.2097-0501.2023.03.018Advances in the Diagnosis and Treatment for Ocular Complication on MucopolysaccharidosisSHI Meipan0SHI Caiping1DU Chixin2Department of Ophthalmology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, ChinaDepartment of Ophthalmology, Children′s Hospital, Zhejiang University School of Medicine, Hangzhou 310003, ChinaDepartment of Ophthalmology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, ChinaMucopolysaccharidosis is a series of rare diseases where a lack of an enzyme affecting mucopolysaccharides metabolism in the patients′ lysosome induces the intracellular deposition of the mucopolysaccharides, and causes ocular and organ-related complications. Ocular complications included corneal opacity, glaucoma, ametropia, strabismus, and chorioretinopathy. This review summarizes the mechanisms, clinical manifestations, specific ophthalmological examinations, and treatments for offering the ophthalmological knowledge to diagnose and begin treatment earlier.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.03.018mucopolysaccharidosisocular complicationsdiagnosistreatment
spellingShingle SHI Meipan
SHI Caiping
DU Chixin
Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
罕见病研究
mucopolysaccharidosis
ocular complications
diagnosis
treatment
title Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
title_full Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
title_fullStr Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
title_full_unstemmed Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
title_short Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
title_sort advances in the diagnosis and treatment for ocular complication on mucopolysaccharidosis
topic mucopolysaccharidosis
ocular complications
diagnosis
treatment
url https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.03.018
work_keys_str_mv AT shimeipan advancesinthediagnosisandtreatmentforocularcomplicationonmucopolysaccharidosis
AT shicaiping advancesinthediagnosisandtreatmentforocularcomplicationonmucopolysaccharidosis
AT duchixin advancesinthediagnosisandtreatmentforocularcomplicationonmucopolysaccharidosis