APR 30, 2010
Researchers extracted genomic DNA from the leukocytes of 18 unrelated Japanese patients with primary congenital glaucoma (PCG) and 21 unrelated patients with juvenile open-angle glaucoma (JOAG), all of whom developed high IOP (> 25 mm Hg) before the age of 35 years.
Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. The first three mutations have been reported in other Japanese PCG patients, but Asp430Glu is a new mutation. No mutations were found in the CYP1B1 gene of the JOAG patients.
The authors concluded that PCG in approximately 20 percent of Japanese patients may be associated with CYP1B1 mutations, but JOAG is not. The three mutations p.Asp192Val, c.4776insAT, and p.Val364Met appear to be common in the Japanese population and might be useful in genetic screening for PCG.