The aim of this study was to investigate the frequency of choroidal abnormalities using infrared reflectance imaging with optical coherence tomography (OCT) in paediatric patients with neurofibromatosis (NF) type 1. Thirty-eight eyes of 19 patients were reviewed. NF1 was diagnosed by NIH criteria. Mean age was 8.63 years ±3.15. Hyper-reflective choroidal abnormalities were found in 15 patients (78.9%). A positive correlation was found between the number of choroidal abnormalities of both eyes and patient age. Iris hamartomas (Lisch nodules) were found in nine patients (47.4%). Choroidal abnormalities were present in all patients with Lisch nodules. Conventional fundus examinations and colour fundus photography did not reveal any abnormalities. Choroidal abnormalities were most often observed at the posterior pole. The authors propose infrared reflectance imaging with OCT is a useful aid in the diagnosis of NF1.
Choroidal defects in neurofibromatosis
Reviewed by Fiona Rowe
Frequency of choroidal abnormalities in pediatric patients with neurofibromatosis type 1.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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