The ocular features of the mucopolysaccharidoses

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Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
08:51

Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry

Published on: June 20, 2025

J L Ashworth1, S Biswas, E Wraith

  • 1Manchester Royal Eye Hospital, Oxford Road, Manchester, UK. Jane_Ashworth@btinternet.com

Eye (London, England)
|May 21, 2005
PubMed
Abstract

Insights

Ocular complications are common in mucopolysaccharidoses (MPS), significantly impacting vision. Corneal opacification is prevalent in MPS I and MPS VI, complicating diagnosis and monitoring of other eye conditions.

Area of Science:

  • Ophthalmology
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic disorders.
  • Characterized by glycosaminoglycan accumulation affecting multiple organ systems.
  • Ocular manifestations are a significant concern in MPS patients.

Purpose of the Study:

  • To determine the prevalence and severity of ocular complications in patients diagnosed with MPS.
  • To analyze the spectrum of ophthalmic findings across different MPS subtypes.

Main Methods:

  • Retrospective review of clinical ophthalmic features.
  • Analysis of electrodiagnostic results from 50 MPS patients.
  • Categorization of findings by MPS subtype (MPS IH, MPS IH/S, MPS VI).

Main Results:

  • High prevalence of reduced visual acuity (up to 79% in MPS IH).
  • Significant corneal opacification noted in MPS IH (16%), MPS IH/S (25%), and MPS VI (38%).
  • Optic nerve abnormalities (atrophy, swelling) and retinopathy observed in MPS IH and MPS VI patients; ocular hypertension and glaucoma also reported.

Conclusions:

  • Ocular complications are frequent and vision-reducing in MPS.
  • Corneal opacification is a major issue in MPS I and MPS VI.
  • These findings complicate the diagnosis and management of glaucoma, optic disc changes, and retinopathy in MPS.

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