Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma
Journal Title: International Journal of Ophthalmology - Year 2019, Vol 12, Issue 4
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."
Authors and Affiliations
Abdel Hady A. Abdel Wahab
Keywords
Related Articles
- EP ID EP616562
- DOI 10.18240/ijo.2019.04.14
- Views 41
- Downloads 0
Abrupt visual loss during anti-vascular endothelial growth factor treatment for type 3 neovascularization
"AIM: To investigate the incidence of abrupt visual loss and its associated factors, during anti-vascular endothelial growth factor (VEGF) treatment for type 3 neovascularization. METHODS: This retrospective study includ...
Comparison of two Nd:YAG laser posterior capsulotomy: cruciate pattern vs circular pattern with vitreous strand cutting
"AIM: To investigate the effects and safety of neodymium: yttrium-aluminium-garnet (Nd:YAG) laser posterior capsulotomy with vitreous strand cutting METHODS: A total of 40 eyes of 37 patients with symptomatic posterior c...
Human eye ocular component analysis for refractive state and refractive surgery
"AIM: To analyze the clinical factors influencing the human vision corrections via the changing of ocular components of human eye in various applications; and to analyze refractive state via a new effective axial length....
Evaluation of the safety and efficacy of therapeutic bandage contact lenses on post-cataract surgery patients
"AIM: To evaluate the safety of therapeutic bandage contact lens for post-cataract surgery patients and to illustrate its efficacy on post-operative comfort and tear-film stability. METHODS: A total of 40 participants we...
Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype
"AIM: To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma (PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous features. METHODS: The DNA...