Table 4 Comparison between HS and standard NIH diagnostic criteria: diagnostic indicators, rate (95% CI)
From: Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
NIH diagnostic criteria | Sensitivity (% and 95% CI) | Specificity (% and 95% CI) |
|---|---|---|
Café-au-lait spots | 98.1 (94.7–99.5) | 100 (97.5–100) |
Freckling | 97.3 (93.3–98.9) | 100 (97.5–100) |
Lisch nodules | 87.9 (88.3–91.4) | 100 (97.5–100) |
Neurofibromas | 77.5 (70.4–83.2) | 100 (97.5–100) |
Optic pathway gliomas | 9.7 (6.6–14.0) | 100 (97.5–100) |
Distinctive osseous lesions | 2.5 (0.9–6.2) | 100 (97.5–100) |
First-degree relative affected | 44.5 (36.9–52.3) | 100 (97.5–100) |
Hyperpigmented spots | 24.1 (19.2–29.8) | 100 (97.5–100) |