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 journalArticle

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

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Keywords

  • Congenital aphakia
  • Congenital glaucoma
  • Consanguinity
  • Mutation analysis

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Judaibi, R. A., Abu-Amero, K. K., Morales, J., Shahwan, S. A., & Edward, D. P. (2014). Mutations of the CYP1B1 gene in congenital anterior staphylomas. Clinical Ophthalmology, 8, 445-448. https://doi.org/10.2147/OPTH.S53200

Mutations of the CYP1B1 gene in congenital anterior staphylomas. / Judaibi, Ramzi Al; Abu-Amero, Khaled K.; Morales, Jose; Shahwan, Sami Al; Edward, Deepak P.

In: Clinical Ophthalmology, Vol. 8, 24.02.2014, p. 445-448.

Research output: Contribution to journalArticle

Judaibi, RA, Abu-Amero, KK, Morales, J, Shahwan, SA & Edward, DP 2014, 'Mutations of the CYP1B1 gene in congenital anterior staphylomas', Clinical Ophthalmology, vol. 8, pp. 445-448. https://doi.org/10.2147/OPTH.S53200
Judaibi RA, Abu-Amero KK, Morales J, Shahwan SA, Edward DP. Mutations of the CYP1B1 gene in congenital anterior staphylomas. Clinical Ophthalmology. 2014 Feb 24;8:445-448. https://doi.org/10.2147/OPTH.S53200
Judaibi, Ramzi Al ; Abu-Amero, Khaled K. ; Morales, Jose ; Shahwan, Sami Al ; Edward, Deepak P. / Mutations of the CYP1B1 gene in congenital anterior staphylomas. In: Clinical Ophthalmology. 2014 ; Vol. 8. pp. 445-448.
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