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Age at onset and female sex typify primary congenital glaucoma with CYP1B1 mutation

https://doi.org/10.1136/jmg.40.10.740

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    Understanding how primary congenital glaucoma (PCG) occurs may be a little closer now that the phenotype of the P4501B1 (CYP1B1) gene mutation in Japanese infants has been determined.

    A case series of 32 infants, all but one with sporadic PCG, was tested for CYP1B1 gene mutations: 11 had mutations in …

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