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Congenital hereditary endothelial dystrophy associated with glaucoma

P B Mullaney1, J M Risco, K Teichmann

  • 1King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

Ophthalmology
|February 1, 1995
PubMed
Summary

Congenital glaucoma and congenital hereditary endothelial dystrophy can occur together in infants. This combination should be suspected in cases of persistent corneal opacity unresponsive to glaucoma treatment.

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Area of Science:

  • Ophthalmology
  • Pediatric Ophthalmology
  • Corneal Diseases

Background:

  • Presents three pediatric cases with diffuse, homogeneously opaque corneas and elevated intraocular pressure (IOP).
  • Clinical presentation consistent with congenital hereditary endothelial dystrophy.

Observation:

  • All infants presented with bilateral elevated intraocular pressure (IOP).
  • Persistent corneal opacification was observed despite initial glaucoma surgery.

Findings:

  • Histopathology revealed an absence of the endothelial cell layer in all patients.
  • Electron microscopy confirmed absent or abnormal endothelial cells and a thickened collagenous layer posterior to Descemet's membrane.
  • All patients maintained clear corneal grafts post-penetrating keratoplasty.

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Implications:

  • Highlights a significant association between congenital glaucoma and congenital hereditary endothelial dystrophy.
  • Suggests this combined condition should be considered in infants with persistent corneal opacity unresponsive to IOP normalization.
  • Emphasizes the importance of early diagnosis and appropriate surgical intervention for visual rehabilitation.