Choroidal abnormalities in neurofibromatosis type 1: a quantitative multimodal retinal imaging analysis
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Updated: Oct 5, 2026
In Vivo Multimodal Imaging and Analysis of Mouse Laser-Induced Choroidal Neovascularization Model
Published on: January 21, 2018
Federica Fossataro1, Claudia Fossataro2, Gilda Cennamo3
1Ophthalmic Hospital, ASST Fatebenefratelli Sacco, Milan, Italy; Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Objective:
To characterize and compare, using multimodal imaging, the qualitative and quantitative features of choroidal abnormalities (CAs) in patients with neurofibromatosis type 1 (NF1).
Design:
Observational, multicentre, retrospective study.
Participants:
Patients with NF1 and at least 1 CA in the macular region were included.
Methods:
Multimodal imaging, including multicolour (MC), near-infrared (NIR), and en face OCT, was collected. CAs were classified into type 1 and type 2, according to scientific literature, on the basis of their size, shape, and pattern. A qualitative assessment of lesion conspicuity was performed using a 3-point Likert scale, as well as a quantitative analysis of lesion area. Statistical analysis was applied to evaluate inter- and intramodality reliability and correlations.
Results:
Among the 35 CAs analysed across MC, NIR, and en face OCT, the median conspicuity rating was "medium" and en face OCT showed the greatest conspicuity (42.9% of CAs) The intermodality reliability was fair to moderate (intraclass correlation coefficient = 0.426). Type 1 lesions were more easily identifiable across all modalities. En face OCT provided the greatest sensitivity of detection of type 2 CAs. Quantitative assessment revealed no significant difference in the area of the CAs across the 3 modalities (P = 0.131), with excellent reliability (intraclass correlation coefficient = 0.960), high correlation (r > 0.95), and no significant relationship between lesion type and area.
Conclusions:
En face OCT demonstrated better detection of CAs compared with MC and NIR imaging. In addition, lesion area measurements were consistent across all 3 modalities, highlighting their reliability in characterizing CAs in patients with NF1.