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

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.