From: Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
NIH Diagnostic Criteria (%) | NF1 patients (%) (n = 249) | Controls (%) (n = 150) | P value |
---|---|---|---|
Café-au-lait spots | 98.1 | 0 | < 0.001a |
Freckling | 91.3 | 0 | < 0.001a |
Lisch nodules | 88 | 0 | < 0.001a |
Neurofibromas | 77.5 | 0 | < 0.001a |
Optic pathway gliomas | 9.6 | 0 | < 0.001a |
Distinctive osseous lesions | 2.5 | 0 | < 0.001a |
First-degree relative affected | 44.5 | 2.7 | < 0.001a |
Choroidal nodulesb | 95.6 | 0 | < 0.001a |
Retinal Microvascular Abnormalitiesb | 32.1 | 0 | < 0.001a |
Hyperpigmented Spotsb | 24.1 | 0 | < 0.001a |