2Assistant Prof. MD., Mersin University Medical School, Department of Child Health and Diseases, Mersin, Turkey
3Associate Prof. MD., Mersin University Medical School, Ophthalmology Department, Mersin, Turkey
4Associate Prof. MD., Mersin University Medical School, Biostatistics Department, Mersin, Turkey
5Ophthalmologist, Mersin Training and Research Hospital, Dermatology Clinic, Mersin, Turkey
6Prof. MD., Mersin University Medical School,Department of Child Health and Diseases, Mersin, Turkey DOI : 10.37845/ret.vit.2020.29.24 Purpose: The aim of this study was to investigate the frequency of choroidal freckling and evaluate the relationship between choroidal freckling (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 Lisch nodule was detected by biomicroscopic examination and recorded. The presence of CF was investigated by near-infrared refl ectance imaging after 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 both parameters). The Lisch nodule was detected in 60.8% of patients, while no Lisch nodule was observed in the control group. The CF frequency was found in 82.6% in the patient group whereas in 4.16% incontrols. The CF frequency was signifi cantly higher in patients with Lisch nodule compared 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 be accepted as a new diagnostic criterion in the following years. However, there is a need for further studies with larger sample size to assess diagnostic accuracy of CD in patients with NF-1.
Keywords : Choroidal freckling, Neurofi bromatosis, Near-infrared refl ectance imaging