[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].

Abstract excerpt

Primary congenital glaucoma was diagnosed in a son (born in 2009) of a healthy, non-consanguineous Roma couple. This couple terminated their next two pregnancies because of the 25% recurrence risk of this autosomal recessive ophthalmological abnormality. Molecular genetic analysis showed the homozygote E387K mutation of the CYP1B1 gene in the proband and the presence of this gene mutation in heterozygous form in...

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