From: Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
Characteristics | NF1 (n = 249) | NF1 Without HS (n = 189) | NF1 with HS (n = 60) | P value |
---|---|---|---|---|
Age (Mean ± SD) | 33 ± 17.1 | 31.9 ± 17.4 | 36.8 ± 15.5 | nsb |
Gender (n) | Â | Â | Â | Â |
 Males | 110 | 79 | 31 | nsa |
 Females | 139 | 110 | 29 |  |
NIH diagnostic Criteria (%) | Â | Â | Â | Â |
 Café-au-lait spots | 98.1 | 97.8 | 100 | nsa |
 Freckling | 91.3 | 92.1 | 85.7 | nsa |
 Lisch nodules | 88 | 86.2 | 93.3 | nsa |
 Neurofibromas | 77.5 | 74.8 | 95.2 | 0.047a |
 Optic pathway gliomas | 9.6 | 9.5 | 10 | nsa |
 Distinctive osseous lesions | 2.5 | 2.2 | 4.8 | nsa |
 First-degree relative affected | 44.5 | 46.3 | 33.3 | nsa |
 Choroidal nodulesc | 95.6 | 94.7 | 98.3 | nsa |
 Retinal Microvascular Abnormalitiesc | 32.1 | 28 | 45 | 0.017a |
NF1 severity grading (%) | ||||
 1 | 15.8 | 18.1 | 3.3 | nsa |
 2 | 58.4 | 57.5 | 63.3 | nsa |
 3 | 13.2 | 12.5 | 16.7 | nsa |
 4 | 12.6 | 11.9 | 16.7 | nsa |