Comparative quantitative analysis of choroidal abnormalities in patients with type 1 neurofibromatosis using multimodal retinal imaging.

Abstract

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.