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Atypical corneal clouding in mucopolysaccharidoses.

Mary Stephen1, M Loganathan2, S Swathi3

  • 1Department of Ophthalmology, JIPMER, Puducherry, India.

Oman Journal of Ophthalmology
|April 3, 2023
PubMed
Summary

This study reports a rare case of Mucopolysaccharidoses (MPS) Type I S presenting with dense corneal clouding, a condition typically mild in lysosomal storage disorders. Early ophthalmological screening is crucial for diagnosing atypical ocular manifestations in these genetic disorders.

Keywords:
Corneal cloudingmucopolysaccharidosesmucopolysaccharidoses Type 1skeletal deformitiesstorage disorders

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Area of Science:

  • Ophthalmology
  • Genetics
  • Metabolic Disorders

Background:

  • Corneal clouding at birth has diverse causes, including congenital anomalies and rare genetic conditions like mucopolysaccharidoses (MPS).
  • Lysosomal storage disorders, such as MPS, often manifest with ocular symptoms, including corneal clouding, though severity varies.
  • Hunter syndrome is an example where corneal clouding is typically absent or mild.

Observation:

  • A case of MPS Type I S (MPS 1) is presented with significant bilateral corneal clouding.
  • The corneal clouding in this patient spared the central 3 mm, with near-normal visual acuity.
  • The patient exhibited characteristic facial and skeletal features consistent with a lysosomal storage disorder.

Findings:

  • This presentation of MPS 1 with dense corneal clouding and central sparing is highly unusual.
  • The ocular findings deviate from the typical presentation of MPS and other lysosomal storage disorders.
  • The case highlights the potential for marked corneal opacity even in MPS types not usually associated with severe eye disease.

Implications:

  • This case underscores the importance of recognizing atypical ocular presentations in lysosomal storage disorders.
  • Routine ophthalmological screening is recommended for patients diagnosed with MPS and other storage disorders.
  • Understanding rare presentations can improve diagnostic pathways and patient management for genetic metabolic diseases.