Mutations of the CYP1B1 gene in congenital anterior staphylomas

Ramzi Al Judaibi; Khaled K Abu-Amero; Jose Morales; Sami Al Shahwan; Deepak P Edward

doi:10.2147/OPTH.S53200

Mutations of the CYP1B1 gene in congenital anterior staphylomas

Clin Ophthalmol. 2014 Feb 24:8:445-8. doi: 10.2147/OPTH.S53200. eCollection 2014.

Authors

Ramzi Al Judaibi¹, Khaled K Abu-Amero², Jose Morales¹, Sami Al Shahwan¹, Deepak P Edward³

Affiliations

¹ King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
² Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia ; Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA.
³ King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia ; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.

Abstract

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.

Keywords: congenital aphakia; congenital glaucoma; consanguinity; mutation analysis.

Publication types

Case Reports