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. © 2014 Al Judaibi et al.
CITATION STYLE
Judaibi, R. A., Abu-Amero, K. K., Morales, J., Shahwan, S. A., & Edward, D. P. (2014). Mutations of the CYP1B1 gene in congenital anterior staphylomas. Clinical Ophthalmology, 8, 445–448. https://doi.org/10.2147/OPTH.S53200
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