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Table 3 Eye involvement and genetic mutations

From: Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Gene

Eye involvement (n = 105)

No eye involvement (n = 101)

OR (95% CI)

p

ACVRL1/ALK1

52 (49.5%)

66 (65.3%)

1 (reference)

ENG

48 (45.7%)

29 (28.7%)

2.10 (1.12–3.95)

0.01

MADH4

1 (1.0%)

0 (0%)

No mutation founded

4 (3.8%)

6 (5.9%)

0.85 (0.17–3.79)

0.80

  1. ACVRL1: Activin A receptor like kinase type 1. ENG: Endoglin. MADH4 (Mother against decapentaplegic homolog 4). OR: Odds ratio. CI: Confidence interval