Choroidal Abnormalities in Neurofimomatosis type 1 detected by Near-Infrared Reflectance Imaging in paediatric population

Abstract

 

Purpose

 

To investigate choroidal abnormalities in paediatric patients with neurofibromatosis type 1 (NF1) detected by near-infrared reflectance (NIR) retinography in order to evaluate diagnostic accuracy.

 

Methods

 

Prospective case-control study. Seventy-eight paediatric patients with NF1, diagnosed according to the National Institutes of Health (NIH) criteria, and 96 healthy control subjects matched for age were examined. Enrolled patients were under 14 years old. The presence and the number of choroidal abnormalities were investigated by confocal scanning laser ophthalmoscopy.

 

Results

 

Seventy-eight patients with NF1 (41 female, 37 male; mean age 8.1±3.5 years), were compared with 96 healthy control subjects ( 42 female, 54 male; mean age 8±3 years). Choroidal abnormalities were observed in 53 (67.9%) of the NF1 patients. As regards the fundus topographical distribution, choroidal abnormalities were more frequent at the posterior pole with a statistically significant correlation between patient age and the number of involved choroidal areas. No choroidal abnormalities were present in the control group. Detection accuracy of choroidal nodules was 70%.

 

Conclusions

 

Choroidal abnormalities appearing as bright patchy regions detected by NIR imaging occurred very frequently in paediatric patients affected by NF1. The present study appears to show that NIR used to detect choroidal involvement allows for elevated diagnostic accuracy.

 

Keywords: 452 choroid • 550 imaging/image analysis: clinical