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Published on: February 9, 2011
Mutations of the CYP1B1 gene in congenital anterior staphylomas
Ramzi Al Judaibi1, Khaled K Abu-Amero2, Jose Morales1
1King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Purpose:
Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene.
Methods:
We reviewed the medical records, including the genetic analysis.
Results:
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)].
Conclusion:
CYP1B1 gene mutation may be associated with congenital anterior staphylomas.
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