Corneal changes in xeroderma pigmentosum: a clinicopathologic report.

Area of Science:

• Ophthalmology
• Genetics
• Dermatology

Background:

• Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation.
• Corneal involvement is a common and potentially sight-threatening complication in XP patients.

Purpose of the Study:

• To detail the clinicopathologic features of corneal involvement in patients diagnosed with xeroderma pigmentosum.
• To investigate the histopathological changes in corneal tissues from XP patients undergoing keratoplasty.

Main Methods:

• Retrospective analysis of corneal histopathology from 11 patients with XP.
• Examination of 13 corneal specimens using hematoxylin-eosin and periodic acid-Schiff stains.
• Light microscopic evaluation of all corneal layers for pathological alterations.

Main Results:

• Clinical findings included corneal haze, scarring, vascularization, edema, and thinning.
• Histopathology revealed epithelial changes (edema, fibrosis, downgrowths, pannus), Bowman membrane abnormalities, stromal alterations (scarring, edema, calcification), thickened Descemet membrane, and significant endothelial cell loss.
• All specimens exhibited moderate to severe loss of endothelial cells.

Conclusions:

• Histologic findings align with previous reports on XP corneal pathology.
• Severe endothelial cell loss is a consistent finding, suggesting UV radiation-induced damage.
• Subnormal endothelial cell density has critical implications for planning anterior lamellar keratoplasty in XP patients.