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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

DOI https://doi.org/10.2147/OPTH.S53200

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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