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Corneal clouding in Alport syndrome.

Martina C Herwig1, Nicole Eter, Frank G Holz

  • 1Department of Ophthalmology, University of Bonn, Bonn, Germany. martina.herwig@ukb.uni-bonn.de

Cornea
|November 4, 2010
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Summary

Alport syndrome, a hereditary disease, can cause unusual corneal changes, including thickened basement membranes and mucopolysaccharide accumulation in Bowman layer, as seen in a patient with posterior polymorphous corneal dystrophy.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Histopathology

Background:

  • Alport syndrome is a genetic disorder affecting basement membranes, commonly impacting kidneys, cochlea, and eyes.
  • Ocular manifestations include posterior polymorphous corneal dystrophy, lenticonus, and retinopathy.

Observation:

  • A 48-year-old male with Alport syndrome presented with corneal and retinal issues.
  • He had a history of posterior polymorphous corneal dystrophy, corneal transplant, and lamellar macular hole.
  • Histological examination of the corneal button revealed endothelial changes, thickened epithelial basement membrane, and Bowman layer.

Findings:

  • Marked irregular thickening of the epithelial basement membrane and Bowman layer was observed.
  • Alcian blue staining confirmed mucopolysaccharide accumulation within the Bowman layer.
  • These histologic findings are rare in Alport syndrome, particularly the Bowman layer changes.

Implications:

  • This case highlights the diverse ocular manifestations of Alport syndrome.
  • It is one of the first reports detailing corneal histologic findings in Alport syndrome.
  • The presence of mucopolysaccharide accumulation in Bowman layer, not previously linked to Alport syndrome, expands understanding of the disease's ocular pathology.