Mutations of the CYP1B1 gene in congenital anterior staphylomas
Authors Judaibi R, Abu-Amero K, Morales J, Al Shahwan S, Edward D
Received 18 August 2013
Accepted for publication 25 September 2013
Published 24 February 2014 Volume 2014:8 Pages 445—448
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 3
Ramzi Al Judaibi,1 Khaled K Abu-Amero,2,3 Jose Morales,1 Sami Al Shahwan,1 Deepak P Edward1,4
1King Khaled Eye Specialist Hospital, 2Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia; 3Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA; 4Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA
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: mutation analysis, congenital glaucoma, consanguinity, congenital aphakia
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