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 |