Mutations of the CYP1B1 gene in congenital anterior staphylomas

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)445-448
Number of pages4
JournalClinical Ophthalmology
Volume8
DOIs
StatePublished - Feb 24 2014

Keywords

  • Congenital aphakia
  • Congenital glaucoma
  • Consanguinity
  • Mutation analysis

ASJC Scopus subject areas

  • Ophthalmology

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