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CYB1P1 mutations are a risk for POAG

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Early treatment to preserve sight should now be possible for some patients at risk of visual impairment, thanks to a study showing that CYP1B1 mutations in French Caucasians predispose to primary open-angle glaucoma (POAG). This will be important to relatives potentially at risk in families with the disease. The mutations significantly raise the risk of early onset POAG, though the findings need to be replicated in other ethnic populations.

Eight mutations in the CYP1B1 gene were found among 11 patients (4.6%) out of 236 unrelated patients with POAG screened for mutations by denaturing high performance liquid chromatography and DNA sequencing, in contrast to just one subject among 197 controls. All of the mutations except one—Y81N, a new mutation found in two of the patients—were known mutations already found in patients with primary congenital glaucoma (PCG). Those patients with the mutations had earlier clinical signs of POAG, with juvenile or middle age onset, than patients without. Seventeen of the patients had MYOC mutation, but none of these had a CYP1B1 mutation.

POAG is a widespread cause of blindness with a complex genetic base. Less than 5% of cases show mendelian inheritance, even though the disease often shows familial clustering, and MYOC mutations account for a mere 2–4% of cases. In some families POAG segregates with PCG, which is associated with mutations in CYP1B1 in many different ethnic groups. These observations suggested that mutations in this gene might also be connected with POAG.

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