Choroidal abnormalities may provide additional diagnostic marker of neurofibromatosis type 1

Investigators used near-infrared reflectance (NIR) to examine choroidal abnormalities in 95 consecutive adult and pediatric patients with neurofibromatosis type 1 (NF1) and 100 healthy controls. They found that choroidal abnormalities appearing as bright patchy nodules frequently occurred in NF1 patients. NIR examination of choroidal involvement should be considered as a new diagnostic criterion for NF1.

NIR-detected choroidal nodules were present in 82 percent of the NF1 patients, including 71 percent of pediatric patients. Similar abnormalities were present in 7 percent of controls, including 8 percent of the pediatric control subjects. The highest accuracy was obtained at the cutoff value of 1.5 choroidal nodules detected by NIR imagery. Sensitivity and specificity of the examination at the optimal cutoff point were 83 percent and 96 percent, respectively. Diagnostic accuracy was 90 percent in the overall population and 83 percent in the pediatric population. Both of these values were in line with the most common NIH diagnostic criteria.

The authors conclude that this information, if supported by further epidemiologic studies, will allow the testing of choroidal abnormalities detected by NIR imaging as an additional diagnostic criterion for NF1, mainly in infants and in patients suspected of having the condition.