Choroidal Freckling: It Would be a New Diagnostic Criteria for Type 1 Neurofi bromatosis?

Özet

Purpose: The aim of this study was to investigate the frequency of choroidal freckling and evaluate the relationship between choroidalfreckling (CF) and Lisch nodule in patients with type 1 neurofi bromatosis (NF-1).Materials-Methods: The study included 23 pediatric patients with NF-1 and 24 age- and sex-matched healthy controls. Presence of Lischnodule was detected by biomicroscopic examination and recorded. The presence of CF was investigated by near-infrared refl ectance imagingafter the pupillary dilation with tropicamide 1%. Diagnostic accuracy of CF was evaluated in patients with NF-1.Results: There was no signifi cant difference in age and gender distributions between the patient and control groups (p>0.05, for bothparameters). The Lisch nodule was detected in 60.8% of patients, while no Lisch nodule was observed in the control group. The CF frequencywas found in 82.6% in the patient group whereas in 4.16% incontrols. The CF frequency was signifi cantly higher in patients with Lisch nodulecompared to patients without (p<0.001). The sensitivity and specifi city for CF fi nding were 82.6% and 95.8%, respectively.Conclusion: The present study showed that choroidal abnormalities termed as CF are common in patients with NF-1 and that it would beaccepted as a new diagnostic criterion in the following years. However, there is a need for further studies with larger sample size to assessdiagnostic accuracy of CD in patients with NF-1.