March 2016
Volume 57, Issue 3
Open Access
Letters to the Editor  |   March 2016
Choroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1)
Author Affiliations & Notes
  • Aldo Vagge
    Eye Clinic DiNOGMI, University of Genoa, Genoa, Italy
  • Paolo Capris
    Department of Ophthalmology, Giannina Gaslini Institute, Genoa, Italy
  • Carlo Enrico Traverso
    Eye Clinic DiNOGMI, University of Genoa, Genoa, Italy
Investigative Ophthalmology & Visual Science March 2016, Vol.57, 774. doi:10.1167/iovs.15-18603
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      Aldo Vagge, Paolo Capris, Carlo Enrico Traverso; Choroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1). Invest. Ophthalmol. Vis. Sci. 2016;57(3):774. doi: 10.1167/iovs.15-18603.

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      © ARVO (1962-2015); The Authors (2016-present)

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We read with great interest the recent article by Parrozzani et al.1 regarding the choroidal abnormalities related to neurofibromatosis type 1 (NF1) in pediatric patients. The authors conducted a prospective, masked, cross-sectional study looking at feasibility and the diagnostic performance evaluation of NF1-related choroidal abnormalities. This has important clinical implications because the National Institutes of Health (NIH) criteria for NF12,3 do not include choroidal abnormalities for diagnosis of NF1. 
This study is of particular interest to us given the possibility of comparing the results with those of our previous study,4 which was not discussed in this article. In brief, we compared 78 pediatric patients with NF1 (age range, 2.8–16.4) and 96 healthy control subjects matched for age (age range, 2.0–15.5). Choroidal nodules were observed in 54 patients (69.2%) with NF1. No choroidal abnormalities were seen in the control group. However, we reported 7.8% of the patients with suspected NF1 (<2 criteria defined by NIH for diagnosis of NF1) to have choroidal abnormalities as well. Furthermore, we observed that the frequency of Lisch nodules was 48.7%. Similar results were found by Viola et al.5 In fact, they showed that the frequency of choroidal nodules in the pediatric NF1 patients was 71%, higher than the 43% of Lisch nodules detected in the same group. 
We agree that choroidal abnormalities are easily assessed in near-infrared imaging (NIR). In our experience choroidal nodules detected by NIR are often less ambiguous to detect than Lisch nodules by slit-lamp examination. In fact, in our study, we observed three subjects with choroidal abnormalities in the healthy group, but these did not present the typical features of the choroidal nodules shown in neurofibromatosis patients. Moreover, optical coherence tomography and specifically NIR are noninvasive, noncontact, quick, and high-resolution methods applicable in children as well. 
Overall, the results and the conclusions of Parrozzani et al.1 are in accordance with our study. Therefore, they contribute to the evidence that the evaluation of choroidal abnormalities identified by NIR imaging should represent a new diagnostic sign in pediatric patients with NF1. 
References
Parrozzani R, Clementi M, Frizziero L, et al. In vivo detection of choroidal abnormalities related to NF1: feasibility and comparison with standard NIH diagnostic criteria in pediatric patients. Invest Ophthalmol Vis Sci. 2015; 56: 6036–6042.
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13–15, 1987. Neurofibromatosis. 1988; 1: 172–178.
Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997; 278: 51–57.
Vagge A, Camicione P, Capris C, et al. Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population. Acta Ophthalmol. 2015; 93: e667–e671.
Viola F, Villani E, Natacci F, et al. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology. 2012; 119: 369–375.
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