罕见病研究 (Jul 2023)

Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis

  • SHI Meipan,
  • SHI Caiping,
  • DU Chixin

DOI
https://doi.org/10.12376/j.issn.2097-0501.2023.03.018
Journal volume & issue
Vol. 2, no. 3
pp. 450 – 454

Abstract

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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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