Quantitative Evaluation of Corneal Transparency in Pediatric Patients with Neurofibromatosis Type 1: A Prospective Case-Control Study

Objective: This study quantitatively investigated the corneal transparency of neurofibromatosis type 1 (NF1) pediatric patients with clinically clear corneas using corneal topography. Material and Methods: This study involved 42 eyes of 21 children diagnosed with NF1 and 46 eyes of 23 age-and sex-matched healthy children. Scheimpflug corneal topography (Pentacam® HR; OCULUS Optikgeräte GmbH, Wetzlar, Germany) and specular microscopy (EM4000; Tomey Corp., Nagoya, Japan) were used to evaluate corneal transparency and endothelial characteristics. Results: Endothelial characteristics, spherical equivalent measurements, and corneal features, including keratometry and pachymetry were similar between the NF1 and control groups (p˃0.05 for all). Corneal densitometry values were significantly increased (p˂0.05 for all) at all depths and diameters in the NF1 group compared to the control group, with the exception of the central (p=0.061) and posterior (p=0.059) 10-12 mm zones. There were statistically significant positive correlations between corneal densitometry measurements and patient age (p˂0.05). Conclusion: Decreased corneal transparency was determined in patients with NF1 compared to healthy subjects. Additionally, there was an inverse correlation between corneal transparency and age in NF1 pediatric patients. Further longitudinal studies will be necessary to determine the progression of reduced corneal transparency, as well as to assess its potential as a new sign of ocular surface involvement for NF1 patients.