Corneal endothelial assessment in xeroderma pigmentosum: a case-control study

To analyze and compare corneal endothelial mosaic in terms of endothelial cell population, morphology and irregularity in patients with xeroderma pigmentosum (XP) with clear corneas with normal age and sex matched subjects using specular microscopy.

Nine patients with XP without corneal involvement were evaluated in the study. An age and sex matched group of nine healthy subjects participated as control group. Evaluation of corneal endothelial layer was performed using specular microscopy.

Each study group consisted of five males and four females with total mean age of 28 ± 11.3 years (12-46 years). Endothelial cell density was significantly lower in patients with XP in comparison with controls (P < 0.002). Maximum and minimum cell areas were significantly higher in XP group (P < 0.016 and P < 0.029, respectively). Although central corneal thickness was higher in controls, the difference was not statistically significant (P = 0.106). Furthermore, our study showed that the patients with XP had no difference with controls in terms of coefficient of variation of cell areas.

This study showed that endothelial cell population can decrease in patients with XP, although other specular microscopic variables such as coefficient of variation and central corneal thickness may remain within normal values.