1.
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
Lim Sing-Hui, Tran-Viet Khanh-Nhat, Yanovitch Tammy L, Freedman Sharon F, Klemm Thomas, Call Whitney et al.
Am J OphthalmolMar 20130 citationsCase-Control Study
This study found CYP1B1 mutations in 15% of US primary congenital glaucoma families, including novel combinations, but no disease-causing LTBP2 or MYOC mutations. Genetic testing for CYP1B1 is clinically relevant.