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CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
Grønskov Karen, Redó-Riveiro Alba, Sandfeld Lisbeth, Zibrandtsen Nathalie, Harris Pernille, Bach-Holm Daniella et al.
J GlaucomaDec 20166 citationsObservational Study
This study found CYP1B1 mutations in 18% of Danish PCG patients, identifying 12 mutations (5 novel). While comparable to other populations, it highlights CYP1B1's significant, but not exclusive, role in PCG etiology.