[Choice of treatment strategy for corneal opacities in patients with mucopolysaccharidosis type VI].

Mucopolysaccharidoses (MPSs) are a group of rare disorders caused by inherited defects of lysosomal enzymes, leading to widespread intra- and extracellular accumulation of glycosaminoglycans (GAGs). The use of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation has significantly reduced the systemic manifestations of MPS but has little effect on the severity of corneal opacity in ophthalmic involvement. Therefore, the choice of the management strategy for patients with these disorders remains a complex and relevant issue. Only a limited number of studies have addressed the treatment of corneal opacity in MPS, and publications by Russian authors on this topic are lacking. We observed 3 patients (6 eyes) with genetically confirmed MPS type VI and corneal opacity. All of them received systemic therapy; however, despite that, functional outcomes did not improve, leading to the need for keratoplasty in one of the patients. This article presents these clinical cases and discusses the therapeutic strategy for corneal opacity in patients with MPS type VI.

• Publication year

  2025

• Venue

  Vestnik oftal mologii

• Publication date

  2025-12-23

• Fields of study

  Medicine

• Identifiers
  DOI 10.17116/oftalma2025141061102PMID 41432511
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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