Corneal endothelial cells and central corneal thickness in patients with neurofibromatosis type 1

The aim of this study was to evaluate the morphological properties of corneal endothelial cells and central corneal thickness (CCT) in patients with neurofibromatosis type 1 (NF1) and to compare them with age-matched healthy controls.

Nineteen NF1 patients and 38 healthy individuals were recruited. All participants underwent complete ophthalmological examination as well as noncontact specular microscopy to measure endothelial cell density (ECD), average cell area (AVG), coefficient of variation of cell area (CV), the percentage of hexagonal cells, and CCT. Eyes with previous ocular trauma, inflammation or surgery, and preexisting corneal and ocular surface diseases were excluded.

NF1 patients had higher ECD compared to healthy controls of the same age (2764.2 ± 270.4 versus 2570.4 ± 449.2 cells/mm, respectively), although at a borderline level (P = 0.051). Patients with NF1 presented significantly lower CV and AVG when compared to controls (32.9 ± 4.6 versus 37.8 ± 9.5%, P = 0.011 and 364.9 ± 34.4 versus 406.0 ± 107.4 µm, P = 0.038, respectively). The NF1 group had significantly higher hexagonality in comparison with controls (55.7 ± 6.5 versus 50.5 ± 9.9%, P = 0.025). CCT was similar between the two groups (P = 0.955).

Our results show that corneal endothelium has more favorable morphological characteristics in NF1 patients compared to healthy individuals of the same age.