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Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma
被引:0
|作者:
Mohamed M.Khafagy
[1
]
Nadia El-Guendy
[2
]
Marwa A Tantawy
[3
]
Mohamed A.Eldaly
[1
]
Hala M.Elhilali
[1
]
Abdel Hady A.Abdel Wahab
[2
]
机构:
[1] Ophthalmology Department, Faculty of Medicine, Cairo University
[2] Cancer Biology Department, National Cancer Institute, Cairo University
[3] Research Department, Children's Cancer Hospital
关键词:
CYP1B1;
mutations;
primary congenital glaucoma;
intraocular pressure;
trabeculotomy/trabeculectomy with mitomycin-C;
D O I:
暂无
中图分类号:
R779.6 [眼外科手术学];
学科分类号:
100212 ;
摘要:
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 1 d, 1 wk, 1, 6 and 12 mo 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 antiglaucoma 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.
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页码:607 / 614
页数:8
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