دورية أكاديمية
أعرض في EDS

Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.

التفاصيل البيبلوغرافية
العنوان: Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.
المؤلفون: Khafagy MM; Ophthalmology Department, Faculty of Medicine, Cairo University, Cairo 11562, Egypt., El-Guendy N; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo 11796, Egypt., Tantawy MA; Research Department, Children's Cancer Hospital, Cairo 11617, Egypt., Eldaly MA; Ophthalmology Department, Faculty of Medicine, Cairo University, Cairo 11562, Egypt., Elhilali HM; Ophthalmology Department, Faculty of Medicine, Cairo University, Cairo 11562, Egypt., Abdel Wahab AHA; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo 11796, Egypt.
المصدر: International journal of ophthalmology [Int J Ophthalmol] 2019 Apr 18; Vol. 12 (4), pp. 607-614. Date of Electronic Publication: 2019 Apr 18 (Print Publication: 2019).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Press of International Journal of Ophthalmology Country of Publication: China NLM ID: 101553860 Publication Model: eCollection Cited Medium: Print ISSN: 2222-3959 (Print) Linking ISSN: 22223959 NLM ISO Abbreviation: Int J Ophthalmol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Xi'an, China : Press of International Journal of Ophthalmology
مستخلص: Aim: To identify CYP1B1 gene mutations and evaluate their possible role as a prognostic factor for success rates in the surgical management of Egyptian congenital glaucoma patients.
Methods: Totally 42 eyes of 29 primary congenital glaucoma patients were operated on with combined trabeculotomy/trabeculectomy with mitomycin-C and followed up at 1d, 1wk, 1, 6 and 12mo postoperatively. Genomic DNA was extracted from peripheral blood leukocytes. Coding regions of CYP1B1 gene were amplified using 13 pairs of primers, screened for mutations using single-strand conformation polymorphism followed by sequencing of both strands. Efficacy of the operation was graded as either a success [maintaining intraocular pressure (IOP) less than 21 mm Hg with or without anti-glaucoma medication], or a failure (IOP more than 21 mm Hg with topical antiglaucoma medications).
Results: Seven novel mutations out of a total of 15 different mutations were found in the CYP1B1 genes of 14 patients (48.2%). The presence of CYP1B1 gene mutations did not correlate with the failure of the surgery ( P =0.156, odds ratio=3.611, 95%CI, 0.56 to 22.89); while the positive consanguinity strongly correlated with failure of the initial procedure ( P =0.016, odds ratio=11.25, 95%CI, 1.57 to 80.30). However, the Kaplan-Meier survival analysis revealed a significantly lower time of IOP control in the subgroup with mutations in CYP1B1 versus the congenital primary glaucoma group without mutations (log rank test, P =0.015).
Conclusion: Seven new CYP1B1 mutations are identified in Egyptian patients. Patients harboring confirmed mutations suffered from early failure of the initial surgery. CYP1B1 mutations could be considered as a prognostic factor for surgery in primary congenital glaucoma.
References: Arch Ophthalmol. 1999 Apr;117(4):457-60. (PMID: 10206572)
J Med Genet. 1999 Apr;36(4):290-4. (PMID: 10227395)
Eye (Lond). 2000 Jun;14 ( Pt 3B):422-8. (PMID: 11026969)
Ophthalmol Clin North Am. 2001 Sep;14(3):501-12. (PMID: 11705150)
Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1820-7. (PMID: 12036985)
Clin Genet. 2002 Oct;62(4):334-9. (PMID: 12372064)
Br J Ophthalmol. 2003 Mar;87(3):302-4. (PMID: 12598442)
Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4200-3. (PMID: 14507861)
Hum Genet. 2003 Nov;113(6):556. (PMID: 14640114)
Ophthalmol Clin North Am. 2003 Dec;16(4):543-54, vi. (PMID: 14740995)
Invest Ophthalmol Vis Sci. 2004 Apr;45(4):1149-56. (PMID: 15037581)
Mol Vis. 2004 Aug 30;10:629-36. (PMID: 15359218)
J Glaucoma. 2005 Apr;14(2):139-44. (PMID: 15741816)
Br J Ophthalmol. 2005 Apr;89(4):449-53. (PMID: 15774922)
Invest Ophthalmol Vis Sci. 2006 Jan;47(1):43-7. (PMID: 16384942)
J AAPOS. 2006 Feb;10(1):7-21. (PMID: 16527674)
Trans Am Ophthalmol Soc. 2006;104:183-95. (PMID: 17471339)
J Mol Diagn. 2007 Jul;9(3):382-93. (PMID: 17591938)
Clin Genet. 2007 Sep;72(3):255-60. (PMID: 17718864)
Ophthalmology. 2007 Nov;114(11):1994-9. (PMID: 17980742)
Hum Mutat. 2008 Sep;29(9):1147-53. (PMID: 18470941)
Am J Ophthalmol. 2009 Apr;147(4):744-53. (PMID: 19195637)
Am J Health Syst Pharm. 2009 Feb 15;66(4):398-408. (PMID: 19202050)
Mol Vis. 2009;15:417-31. (PMID: 19234632)
Am J Hum Genet. 2009 May;84(5):664-71. (PMID: 19361779)
J Glaucoma. 2010 Mar;19(3):176-82. (PMID: 19528825)
Hum Mol Genet. 2010 Oct 15;19(20):4083-90. (PMID: 20660114)
Am J Ophthalmol. 2011 Feb;151(2):263-71.e1. (PMID: 21168818)
Middle East Afr J Ophthalmol. 2011 Jan;18(1):7-16. (PMID: 21572728)
Exp Eye Res. 2011 Nov;93(5):572-9. (PMID: 21854771)
Mol Vis. 2011;17:2911-9. (PMID: 22128238)
Br J Ophthalmol. 2014 Feb;98(2):246-51. (PMID: 24227805)
J Pediatr Genet. 2017 Dec;6(4):205-214. (PMID: 29142762)
Surv Ophthalmol. 1983 Jul-Aug;28(1):1-19. (PMID: 6353647)
Trans Am Ophthalmol Soc. 1982;80:321-5. (PMID: 7182965)
Hum Mol Genet. 1996 Aug;5(8):1199-203. (PMID: 8842741)
Hum Mol Genet. 1997 Apr;6(4):641-7. (PMID: 9097971)
Hum Mol Genet. 1997;6(10):1667-77. (PMID: 9300658)
Am J Hum Genet. 1998 Feb;62(2):325-33. (PMID: 9463332)
Am J Hum Genet. 1998 Mar;62(3):573-84. (PMID: 9497261)
فهرسة مساهمة: Keywords: CYP1B1 mutations; intraocular pressure; primary congenital glaucoma; trabeculotomy/trabeculectomy with mitomycin-C
تواريخ الأحداث: Date Created: 20190427 Latest Revision: 20201001
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC6469545
DOI: 10.18240/ijo.2019.04.14
PMID: 31024815
قاعدة البيانات: MEDLINE
الوصف
تدمد:2222-3959
DOI:10.18240/ijo.2019.04.14