1.
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto Francesca, Chavarria-Soley Gabriela, Mardin Christian Y, Michels-Rautenstrauss Karin, Ingelman-Sundberg Magnus, Fernández-Martínez Lorena et al.
Invest Ophthalmol Vis SciJul 200955 citationsCase-Control Study
This study found heterozygous loss-of-function CYP1B1 variants significantly increase primary open-angle glaucoma risk (OR=5.4), highlighting their role in disease susceptibility.