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

International Journal of Ophthalmology(English edition) 2019年第4期12卷 607-614页

作者： mohamed M.Khafagy Nadia El-Guendy Marwa A Tantawy mohamed a.eldaly Hala M.Elhilali Abdel Hady A.Abdel Wahab Ophthalmology Department Faculty of Medicine Cairo University Cancer Biology Department National Cancer Institute Cairo University Research Department Children's Cancer Hospital

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.

关键词： CYP1B1 mutations primary congenital glaucoma intraocular pressure trabeculotomy/trabeculectomy with mitomycin-C.

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Correlation between corneal demarcation line depth in epithelium-off and trans-epithelium accelerated corneal cross linking and keratoconus progression

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International Journal of Ophthalmology(English edition) 2020年第6期13卷 907-912页

作者： Mahmoud Abdel-Radi Zeiad eldaly Hazem Abdelmotaal Reham Abdelrahman mohamed Sayed Kamel Soliman Department of Ophthalmology Assiut UniversityAssiut 71516Egypt

AIM:To compare corneal demarcation line(DL)depth in both accelerated epithelium-off and trans-epithelium cross linking(CXL)using anterior segment optical coherence tomography(AS-OCT)and its relation to maximum keratometry(Kmax)progression in both techniques.METHODS:A prospective comparative interventional study where patients with mild to moderate keratoconus(KC)were classified into two groups:accelerated epitheliumoff and trans-epithelium CXL based on corneal pachymetry.Assessment of corneal DL depth was carried out after 3mo by AS-OCT.Kmax readings were evaluated after one year follow up using the Scheimpflug imaging system.RESULTS:Study included 74 eyes of 44 patients.Group A underwent epithelium-off CXL(41 eyes),while Group B underwent trans-epithelium CXL(33 eyes).At 3mo follow up,mean corneal DL depth in Group A was 219.9±58.4μm while in Group B was 127.2±7.8μm(P0.05).In addition,no significant change in corneal pachymetry was found in both groups(meanchange at 1y:6.4±4.7 and-10.1±2.3μm in Groups A and B respectively).CONCLUSION:Despite a significantly deeper corneal DL depth created by accelerated epithelium-off CXL technique compared to accelerated trans-epithelium CXL,there is no significant impact on keratoconus progression.

关键词： anterior segment optical coherence tomography cross linking demarcation line keratoconus

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