title: Mutations of the CYP1B1 gene in congenital anterior staphylomas.
abstract: OBJECTIVE
  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)].
  
  
  CONCLUSIONS
  CYP1B1 gene mutation may be associated with congenital anterior staphylomas.
authors.affiliation: King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Ramzi
authors.initials: R
authors.lastname: Al Judaibi
authors.affiliation: 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.
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.affiliation: King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Jose
authors.initials: J
authors.lastname: Morales
authors.affiliation: King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Sami
authors.initials: S
authors.lastname: Al Shahwan
authors.affiliation: King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia ; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.
authors.forename: Deepak P
authors.initials: DP
authors.lastname: Edward
keywords: congenital aphakia; congenital glaucoma; consanguinity; mutation analysis