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Table 2 Frequency of the NIH diagnostic criteria, NF-1-related choroidal nodules, retinal microvascular abnormalities and HSs between patients and controls

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

  1. aFisher's Exact Test
  2. bCurrently not included in NIH Diagnostic Criteria