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Related Experiment Videos

Hurler's disease.

Gautam Bhaduri1, Soumya Chatterjee, Ajay De Sarkar

  • 1Regional Institute of Ophthalmology, Kolkata.

Journal of the Indian Medical Association
|December 22, 2005
PubMed
Summary
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Hurler's disease (mucopolysaccharidoses 1H) is an enzyme deficiency causing various health issues. This study presents two siblings with corneal opacities, highlighting the ocular manifestations of this rare genetic disorder.

Area of Science:

  • Genetics
  • Ophthalmology
  • Metabolic Disorders

Background:

  • Hurler's disease (mucopolysaccharidoses 1H) is an autosomal recessive disorder.
  • It results from a deficiency in the enzyme alpha-iduronidase.
  • This deficiency leads to a spectrum of clinical findings, including ocular, skeletal, and cognitive abnormalities.

Observation:

  • Two siblings, a 9-year-old brother and a 7-year-old sister, presented with symptoms.
  • Their parents had a consanguineous marriage, a known risk factor for autosomal recessive disorders.
  • Both children exhibited dense bilateral corneal opacities upon ocular examination.

Findings:

  • Elevated glycosaminoglycan levels were detected in both patients (4 mg/mmol cr and 5 mg/mmol cr).
  • The ocular findings were significant, characterized by severe corneal clouding.

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  • Management strategies differed, with no ocular treatment planned for the brother and penetrating keratoplasty for the sister.

    • Implications:

    • This case series underscores the importance of ophthalmological evaluation in diagnosing Hurler's disease.
    • Corneal opacities can be a prominent early sign of mucopolysaccharidoses 1H.
    • Timely diagnosis and appropriate management, such as corneal transplantation, can potentially improve visual outcomes in affected individuals.