Mutations of the CYP1B1 gene in congenital anterior staphylomas.

Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. We reviewed the medical records, including the genetic analysis. Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. CYP1B1 gene mutation may be associated with congenital anterior staphylomas.