Frequency of Choroidal Abnormalities in Pediatric Patients With Neurofibromatosis Type 1

Purpose: To investigate the frequency of choroidal abnormalities in pediatric patients with neurofibromatosis type 1 detected by infrared reflectance imaging. Methods: The fundus of 38 eyes of 19 patients with neurofibromatosis type 1 was examined using infrared reflectance imaging with optical coherence tomography. Forty eyes of 20 age-matched controls were examined similarly. Each patient was evaluated for the presence and the number of choroidal abnormalities. The correlation between the total number of choroidal abnormalities and the patient's age was studied. Results: A total of 19 patients (11 females, 8 males) were included. The mean age of the neurofibromatosis group was 8.63 +/- 3.15 years (range: 4 to 16 years) and that of the control group was 9.05 +/- 3.27 years (range: 4 to 15 years). Choroidal nodules appearing as bright patchy nodules were detected in 15 (78.9%) of 19 patients with neurofibromatosis type 1 and 1 (5%) of 20 control subjects. In terms of the frequency of choroidal abnormalities, the difference was significant between the patients with neurofibromatosis type 1 and the controls (P < .001). There was a positive correlation between the number of choroidal abnormalities in both eyes and the patient's age (r = 0.701, P = .001). Conclusions: Choroidal abnormalities are frequent in neurofibromatosis type 1. Choroidal abnormalities detected by infrared reflectance imaging with optical coherence tomography can be used to diagnose neurofibromatosis type 1.