{Reference Type}: Case Reports
{Title}: Mutations of the CYP1B1 gene in congenital anterior staphylomas.
{Author}: Al Judaibi R;Abu-Amero KK;Morales J;Al Shahwan S;Edward DP;
{Journal}: Clin Ophthalmol
{Volume}: 8
{Issue}: 0
{Year}: 2014
暂无{DOI}: 10.2147/OPTH.S53200
{Abstract}: <B>OBJECTIVE: </B>Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene.<BR><B>METHODS: </B>We reviewed the medical records, including the genetic analysis.<BR><B>RESULTS: </B>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)].<BR><B>CONCLUSIONS: </B>CYP1B1 gene mutation may be associated with congenital anterior staphylomas.