Retinal and Choroidal Changes in Neurofibromatosis Type 1 in Relation to Diagnostic Criteria and Disease Severity

To evaluate choroidal abnormalities in neurofibromatosis type 1 (NF1) using near-infrared reflectance (NIR) and en face optical coherence tomography angiography (OCTA), and to assess their associations with retinal and choroidal structural and microvascular parameters across diagnostic criteria and disease severity.

Fifty-two NF1 cases and 52 age- and sex-matched controls underwent multimodal imaging (SD-OCT, EDI-OCT, OCTA). Eye-level analyses used generalized estimating equations to account for inter-eye correlation. Multiple comparisons were controlled by the Benjamini-Hochberg false discovery rate (FDR).

NIR detected choroidal abnormalities in 69.2% of NF1 cases, while en face OCTA identified corresponding lesions in 57.7%. NF1 eyes showed significantly reduced subfoveal choroidal thickness (SFCT, FDR adj p < 0.001) and higher superficial capillary plexus (SCP) vessel density and perfusion (FDR adj p = 0.012 for each). Deep capillary plexus (DCP) vessel density decreased with increasing disease severity in unadjusted analysis but lost significance after FDR adjustment. Apparent differences in age, central macular thickness (CMT), and FAZ circularity also became nonsignificant after adjustment.

NIR is more sensitive than OCTA for detecting choroidal abnormalities, whereas OCTA provides complementary quantitative insights. Reduced SFCT confirms choroidal involvement in NF1, and higher SCP metrics may reflect early remodeling or endothelial dysregulation. Larger, longitudinal studies are needed to validate DCP changes as potential markers of disease burden.