Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma
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Abdel Hady A. Abdel Wahab. Department of Cancer Biology, National Cairo Institute, Cairo University, 1 Al-Kasr El-Aini Str., Cairo 11796, Egypt. abdelhady.abdelwahab@nci.cu.edu.eg

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    Abstract:

    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.

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Khafagy M, El-Guendy N, Tantawy M, Eldaly M, Elhilali H, Abdel Wahab A. Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma. Int J Ophthalmol 2019;12(4):607-614

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Publication History
  • Received:July 08,2018
  • Revised:November 09,2018
  • Adopted:
  • Online: March 06,2019
  • Published: