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Keratoconus associated with hyperimmunoglobulin E syndrome.

Jeehee Kim1, Marcelo V Netto

  • 1Department of Ophthalmology, University of Washington, Box 356485, Seattle, WA 98195-6485, USA. devgroves@excite.com

Cornea
|January 1, 2004
PubMed
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This case report highlights keratoconus in a patient with hyperimmunoglobulin E syndrome (HIES). Early corneal topography is crucial for detecting this association in HIES patients.

Area of Science:

  • Ophthalmology
  • Immunology
  • Genetics

Background:

  • Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by eczema, recurrent infections, and elevated IgE.
  • Ocular manifestations in HIES are not well-documented, presenting a diagnostic challenge.

Observation:

  • A 28-year-old male with HIES presented with chronic eczematous dermatitis and severe ocular pruritus.
  • Ophthalmic examination revealed a scissoring reflex on retinoscopy, with normal slit-lamp biomicroscopy.
  • Corneal topography demonstrated bilateral keratoconus, an ectatic corneal disease.

Findings:

  • The case identifies a potential association between HIES and keratoconus.
  • Despite the rarity of HIES, the presence of keratoconus warrants consideration.

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Implications:

  • Ophthalmologists and immunologists should consider screening for keratoconus in HIES patients.
  • Early detection of corneal ectasia can guide management and prevent visual impairment in individuals with HIES.