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 ...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 from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically matched healthy controls from the affiliated hospital of Qingdao University were extracted. The coding region of the CYP1B1 gene was amplified by PCR and direct DNA sequencing was performed. Disease causing-variants were analyzed by comparing the sequences and the structures of wild type and mutant CYP1B1 proteins by PyMOL software.RESULTS: Two missense mutations, including A330 F caused by c.988 G>T&c.989 C>T, and R390H caused by c.1169 G>A, were identified in one of the 13 PCG patients analyzed in our study. A330F mutation was observed to be novel in the Chinese Han population, which dramatically altered the protein structure of CYP1B1 gene, including the changes in the ligand-binding pocket. Furthermore, R390H mutation caused the changes in heme-protein binding site of this gene. In addition, the clinical phenotype displayed by PCG patient with these mutations was more pronounced than other PCG patients without these mutations. Multiple surgeries and combined drug treatment were not effective in reducing the elevated intraocular pressure in this patient.CONCLUSION: A novel A330F mutation is identified in the CYP1B1 gene of Chinese PCG patient. Moreover, in combination with other mutation R390H, this PCG patient shows significant difference in the CYP1B1 protein structure, which may specifically contribute to severe glaucomatous phenotype.展开更多
AIM: To evaluate the outcome of the initial and the redo-surgeries for primary congenital glaucoma(PCG) correlated to its degree of severity. METHODS: A retrospective study involved patients with PCG presented between...AIM: To evaluate the outcome of the initial and the redo-surgeries for primary congenital glaucoma(PCG) correlated to its degree of severity. METHODS: A retrospective study involved patients with PCG presented between 2010 and 2018. Medical records were reviewed to assess the degree of the preoperative severity according to the intraocular pressure(IOP), corneal diameter and corneal edema. Success and failure rates were calculated for both first and redo-surgeries at 6 and 12 mo respectively then correlated to the severity of the cases. RESULTS: Complete records were retrieved for 272 eyes(153 patients) with PCG: 43 eyes were mild, 136 moderate and 93 severe. Combined trabeculotomy and trabeculectomy(CTT) had the highest success rate in moderate(96.4%) and severe cases(59.3%) while trabeculotomy had the highest success rate in mild cases(96.3%). Medical records of 88 eyes(63 patients) with recurrent PCG were analyzed, most with severe presentation(59 eyes). Ahmed glaucoma valve(AGV) was used in 67(76%) eyes and augmented trabeculectomy in 21(24%) eyes. At 12 mo, there was no statistically significant difference between both surgeries in total success rate(P=0.256). For mild cases, success rate was 100% for both surgeries. Severe cases had higher success rates following AGV(87%) than augmented trabeculectomy(20%). Preoperative severity of the disease was an independent factor affecting the failure rate in secondary trabeculectomy but not in AGV. Patients younger than 24 mo had higher probabilities of failure following both redo-surgeries with hazard ratio =1.325 and 0.37 for augmented trabeculectomy and AGV respectively. CONCLUSION: Preoperative assessment of the severity of eyes with PCG helps in the selecting the optimal primary and secondary surgery. For first surgery, trabeculotomy is more effective in mild cases whereas; CTT and augmented subscleral trabeculectomy(SST) are appropriate for moderate and severe cases. AGV proved to be superior to augmented SST in severe recurrent cases.展开更多
AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different et...AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. The standard ophthalmological examination was done to characterize the phenotype. Genomic DNA was extracted from 10 mL whole blood and coding exons and exon intron boundaries of CYP1 B1 gene were directly sequenced. Bioinformatics tools were used to model the mutant protein and predict the effect of novel variants on protein structure and function. RESULTS: Sequencing analysis revealed 5 different CYP1 B1 variants in 7 families(7/11; 64%), including two novel variants. A common mutation, p.R390 H was found in four families, whereas p.P437 L was found once in a family. Two novel variants, a homozygous non sense variant p.L13* and a compound heterozygous variant, p.P350 T along with p.V364 M were segregating with PCGin two families. All the patients had the variable onset and severity of the disease. The success rate of early clinical interventions was observed dependent on mutation types and position. Two different haplotypes were associated with frequently found mutation, p.R390 H. CONCLUSION: Identification of novel CYP1 B1 variants reassert the genetic heterogeneity of Pakistani PCG patients. The patients with missense mutations show severe phenotypic presentations and poor vision after surgical interventions as compare to patients with null variants. This may help to better understand the role of CYP1 B1 mutations in the development of PCG and its course of pathogenicity.展开更多
AIM: To evaluate the clinical effect of improved viscocanalostomy in patients with primary congenital glaucoma. METHODS: Retrospective analysis of improved viscocanalostomy was performed on 51 eyes of 42 patients with...AIM: To evaluate the clinical effect of improved viscocanalostomy in patients with primary congenital glaucoma. METHODS: Retrospective analysis of improved viscocanalostomy was performed on 51 eyes of 42 patients with primary congenital glaucoma. The outcome evaluation included postoperative intraocular pressure (IOP), corneal diameter, cup/disc ratio and complications. All patients were followed up at week 1, month 1, 3, 6 and 12. RESULTS: The results revealed that postoperative IOP was decreased from (38.57 +/- 13.61)mmHg to (10.53 +/- 3.91)mmHg. (14.89 +/- 5.26)mmHg,(15.42 +/- 5.11)mmHg, (13.82 +/- 3.46)mmHg, (13.16 +/- 5.29)mmHg at follow-up time of 1 week,1, 3, 6, 12 months (P<0.001). The postoperative corneal diameter was decreased significantly (P=0.002); The mean cup/dish ratio wasn't significantly different (P=0.148) before and after the surgery, the cup/dish ratio of successful surgery was evidently decreased (preoperative 0.7 +/- 0.2, postoperative 0.6 +/- 0.3, P = 0.007), but the complications like unformed anterior chamber were not observed. The mean follow-up period was 12 months. CONCUJSION: Improved viscocanalostomy improves the clinical effects of the patients with primary congenital glaucoma, such as higher success rates, lower postoperative mean IOP and fewer complications.展开更多
Background:Spontaneously resolved primary congenital glaucoma is rare and the mechanism remains unknown.Previous literature described the phenomenon of spontaneous resolution of primary congenital glaucoma,with no fur...Background:Spontaneously resolved primary congenital glaucoma is rare and the mechanism remains unknown.Previous literature described the phenomenon of spontaneous resolution of primary congenital glaucoma,with no further reports on follow-up visits and visual development of patients.We report a case of unilateral spontaneously resolved primary congenital glaucoma at a 7-year follow-up visit and describe the differential development of axial length(AL)between affected eye and healthy eye.Case Description:A 6-year-old boy firstly presented at Zhongshan Ophthalmic Center with expanded corneas and ruptures in Descemet’s membranes(Haab’s striae)and apparently thin retinal nerve fiber layer(RNFL)in the left eye(LE),but normal intraocular pressure(IOP)of both eyes without anti-glaucoma medications or surgeries.At 7-year follow-up,the IOPs of bilateral eyes were stable ranging from 8 to 11 mmHg.A cup to disc ratio and the RNFL was stable in the LE at the following visit.The AL increased almost 3 mm in the right eye(RE)but 1.5 mm in the LE.Without anti-glaucoma medications or surgeries,the primary congenital glaucoma was spontaneously resolved.Conclusions:It may figure out the development and influence of the affected eye of the patient,including AL and refraction state with regular ophthalmic examination at periodic follow-up.展开更多
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 prima...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.展开更多
Background： Early surgical intervention is required for the primary congenital glaucoma （PCG）. There are currently few reports on the surgical outcomes in infants with PCG. This study aimed to evaluate the efficacy...Background： Early surgical intervention is required for the primary congenital glaucoma （PCG）. There are currently few reports on the surgical outcomes in infants with PCG. This study aimed to evaluate the efficacy and safety oftrabeculotomy and the postoperative visual outcomes in Chinese newborns with PCG within 4 weeks of birth. Methods： A total of 21 eyes of 12 patients with PCG who underwent primary trabeculotomy within 4 weeks of birth were retrospectively studied. Preoperative and postoperative intraocular pressure （lOP）, corneal clarity and diameter, axial length and optic disc cupping, visual acuity and postoperative refractive error, success rates, and complications were evaluated. Kaplan-Meier survival analysis was applied to evaluate the success rates. Results： The mean follow-up time was 46.9 ~ 34.4 months （range： 12-122 months）. The postoperative lOP was significantly lower than the preoperative lOP at all of the follow-up visits （P 〈 0.001 ）. The complete success rates for all eyes at 1,2, 3, and 5 years postoperatively were 90.5%, 85.7%, 85.7%, and 85.7%, respectively. The lOPs of the three patients who needed antiglaucomatous medications postoperatively were also well controlled. At the last visit, the cornea became clear, and the cup-to-disc ratio decreased significantly （P = 0.01） although the horizontal corneal diameter did not change significantly （P = 0.11 ）. Visual acuities were able to be recorded in eight eyes at the last visit, among which six eyes had a best-corrected visual acuity of 20/40 or better. There were no severe intraoperative or postoperative complications. Conclusions： Trabeculotomy proves to be a safe and effective treatment in reducing lOP in this group of Chinese newborns with PCG. The outcomes of vision function were satisfactory in most of the patients.展开更多
Background Surgical interventions are the main treatment for primary congenital glaucoma （PCG）. This study aimed to compare the efficacy and safety between viscocanalostomy and mitomycin C （MMC）-trabeculectomy in ...Background Surgical interventions are the main treatment for primary congenital glaucoma （PCG）. This study aimed to compare the efficacy and safety between viscocanalostomy and mitomycin C （MMC）-trabeculectomy in patients with PCG. Methods A total number of 43 patients with PCG who underwent either viscocanalostomy （group 1） or MMC- trabeculectomy （group 2） between June 2003 and June 2008 were retrospectively reviewed. The patients＇ intraocular pressures （lOPs） were examined before surgery and on day 1, week 1, month 1, month 6, and month 12 post-operative. Mean horizontal corneal diameters, success rates, intra- and post-operative complications were compared between the two groups. Results Pre-operative lOPs were （31.96±3.90） mmHg in group 1 and （32.56±4.00） mmHg in group 2. At the last visit, lOPs were （16.78±2.20） mmHg and （15.77±2.60） mmHg, respectively （P 〈0.001）; the complete success rates of group 1 and group 2 were 45.9% and 67.4%, respectively, and the difference was not statistically significant （P=0.158）. There were no major complications occurred in the two groups. Conclusions Both viscocanalostomy and trabeculectomy can lower lOP in PCG patients effectively. Although there was no major complications occurred in both groups, viscocanlostomy may decrease the probability of postoperative haemorrhage, hypotony, cataract, or choroid effusion.展开更多
目的了解中国人群原发性先天性青光眼患者CYP1B1基因突变及其分布情况。方法检索Pub Med、Web of Science、CNKI、万方等数据库,收集公开发表的有关中国人群原发性先天性青光眼患者CYP1B1基因突变筛查研究文献。采用系统评价的方法评价...目的了解中国人群原发性先天性青光眼患者CYP1B1基因突变及其分布情况。方法检索Pub Med、Web of Science、CNKI、万方等数据库,收集公开发表的有关中国人群原发性先天性青光眼患者CYP1B1基因突变筛查研究文献。采用系统评价的方法评价文献质量,提取相关数据,运用Freeman-Tukey双反正弦变换法对基因突变率进行合并计算,收集并获得我国原发性先天性青光眼患者的CYP1B1基因突变谱。结果共纳入9篇文献,包括434例原发性先天性青光眼患者,其中69例存在CYP1B1基因突变,合并突变率为15.2%（95%可信区间11.8%~19.0%）。共发现43种突变,基因突变谱分散,以7990C〉T（L385F）、8006G〉A（R390H）、4124C〉G（L107V）三种突变频率最高,比较发现L107V是中国原发性先天性青光眼人群CYP1B1基因特有的变异位点。结论中国原发性先天性青光眼患者的CYP1B1基因突变率较低,提示该人群中存在除CYP1B1基因以外的其他致病基因。收集获得的CYP1B1基因突变谱可为今后原发性先天性青光眼人群基因突变筛查提供参考。展开更多
目的:了解原发性先天性青光眼患者致病基因CYP1B1(Cytochrome P450 family 1 subfamily B polypeptide 1)的变异情况。方法:采用高分辨率熔解(high-resolution melting,HRM)方法,分析20例原发性先天性青光眼患者的CYP1B1基因热点突变区...目的:了解原发性先天性青光眼患者致病基因CYP1B1(Cytochrome P450 family 1 subfamily B polypeptide 1)的变异情况。方法:采用高分辨率熔解(high-resolution melting,HRM)方法,分析20例原发性先天性青光眼患者的CYP1B1基因热点突变区,同时采用测序的方法验证HRM的检测结果。结果:检出g.6767C>T(p.D449D)变异2例,g.2527C>G(p.R48G)变异1例,两种变异共存者1例。结论:在CYP1B1基因突变筛查方法中,HRM具有高度的灵敏性和特异性,可用于筛查原发性先天性青光眼。PCG的原因可能与g.6767C>T(p.D449D)和g.2527C>G(p.R48G)的变异有关;两种变异共存者可能导致更严重的PCG。展开更多
基金Supported by “Clinical medical+X” Project from Department of Medicine of Qingdao University
文摘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 from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically matched healthy controls from the affiliated hospital of Qingdao University were extracted. The coding region of the CYP1B1 gene was amplified by PCR and direct DNA sequencing was performed. Disease causing-variants were analyzed by comparing the sequences and the structures of wild type and mutant CYP1B1 proteins by PyMOL software.RESULTS: Two missense mutations, including A330 F caused by c.988 G>T&c.989 C>T, and R390H caused by c.1169 G>A, were identified in one of the 13 PCG patients analyzed in our study. A330F mutation was observed to be novel in the Chinese Han population, which dramatically altered the protein structure of CYP1B1 gene, including the changes in the ligand-binding pocket. Furthermore, R390H mutation caused the changes in heme-protein binding site of this gene. In addition, the clinical phenotype displayed by PCG patient with these mutations was more pronounced than other PCG patients without these mutations. Multiple surgeries and combined drug treatment were not effective in reducing the elevated intraocular pressure in this patient.CONCLUSION: A novel A330F mutation is identified in the CYP1B1 gene of Chinese PCG patient. Moreover, in combination with other mutation R390H, this PCG patient shows significant difference in the CYP1B1 protein structure, which may specifically contribute to severe glaucomatous phenotype.
文摘AIM: To evaluate the outcome of the initial and the redo-surgeries for primary congenital glaucoma(PCG) correlated to its degree of severity. METHODS: A retrospective study involved patients with PCG presented between 2010 and 2018. Medical records were reviewed to assess the degree of the preoperative severity according to the intraocular pressure(IOP), corneal diameter and corneal edema. Success and failure rates were calculated for both first and redo-surgeries at 6 and 12 mo respectively then correlated to the severity of the cases. RESULTS: Complete records were retrieved for 272 eyes(153 patients) with PCG: 43 eyes were mild, 136 moderate and 93 severe. Combined trabeculotomy and trabeculectomy(CTT) had the highest success rate in moderate(96.4%) and severe cases(59.3%) while trabeculotomy had the highest success rate in mild cases(96.3%). Medical records of 88 eyes(63 patients) with recurrent PCG were analyzed, most with severe presentation(59 eyes). Ahmed glaucoma valve(AGV) was used in 67(76%) eyes and augmented trabeculectomy in 21(24%) eyes. At 12 mo, there was no statistically significant difference between both surgeries in total success rate(P=0.256). For mild cases, success rate was 100% for both surgeries. Severe cases had higher success rates following AGV(87%) than augmented trabeculectomy(20%). Preoperative severity of the disease was an independent factor affecting the failure rate in secondary trabeculectomy but not in AGV. Patients younger than 24 mo had higher probabilities of failure following both redo-surgeries with hazard ratio =1.325 and 0.37 for augmented trabeculectomy and AGV respectively. CONCLUSION: Preoperative assessment of the severity of eyes with PCG helps in the selecting the optimal primary and secondary surgery. For first surgery, trabeculotomy is more effective in mild cases whereas; CTT and augmented subscleral trabeculectomy(SST) are appropriate for moderate and severe cases. AGV proved to be superior to augmented SST in severe recurrent cases.
基金supported by Pakistan Sciences Foundation Grant (No: Biotech-101)LUMHS Intramural Funds to Ali M Waryah
文摘AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. The standard ophthalmological examination was done to characterize the phenotype. Genomic DNA was extracted from 10 mL whole blood and coding exons and exon intron boundaries of CYP1 B1 gene were directly sequenced. Bioinformatics tools were used to model the mutant protein and predict the effect of novel variants on protein structure and function. RESULTS: Sequencing analysis revealed 5 different CYP1 B1 variants in 7 families(7/11; 64%), including two novel variants. A common mutation, p.R390 H was found in four families, whereas p.P437 L was found once in a family. Two novel variants, a homozygous non sense variant p.L13* and a compound heterozygous variant, p.P350 T along with p.V364 M were segregating with PCGin two families. All the patients had the variable onset and severity of the disease. The success rate of early clinical interventions was observed dependent on mutation types and position. Two different haplotypes were associated with frequently found mutation, p.R390 H. CONCLUSION: Identification of novel CYP1 B1 variants reassert the genetic heterogeneity of Pakistani PCG patients. The patients with missense mutations show severe phenotypic presentations and poor vision after surgical interventions as compare to patients with null variants. This may help to better understand the role of CYP1 B1 mutations in the development of PCG and its course of pathogenicity.
基金Scientific and Technological Research Projects in Liaoning Province,China (No.2009225021)
文摘AIM: To evaluate the clinical effect of improved viscocanalostomy in patients with primary congenital glaucoma. METHODS: Retrospective analysis of improved viscocanalostomy was performed on 51 eyes of 42 patients with primary congenital glaucoma. The outcome evaluation included postoperative intraocular pressure (IOP), corneal diameter, cup/disc ratio and complications. All patients were followed up at week 1, month 1, 3, 6 and 12. RESULTS: The results revealed that postoperative IOP was decreased from (38.57 +/- 13.61)mmHg to (10.53 +/- 3.91)mmHg. (14.89 +/- 5.26)mmHg,(15.42 +/- 5.11)mmHg, (13.82 +/- 3.46)mmHg, (13.16 +/- 5.29)mmHg at follow-up time of 1 week,1, 3, 6, 12 months (P<0.001). The postoperative corneal diameter was decreased significantly (P=0.002); The mean cup/dish ratio wasn't significantly different (P=0.148) before and after the surgery, the cup/dish ratio of successful surgery was evidently decreased (preoperative 0.7 +/- 0.2, postoperative 0.6 +/- 0.3, P = 0.007), but the complications like unformed anterior chamber were not observed. The mean follow-up period was 12 months. CONCUJSION: Improved viscocanalostomy improves the clinical effects of the patients with primary congenital glaucoma, such as higher success rates, lower postoperative mean IOP and fewer complications.
基金The research work was supported by National Natural Science Foundation of China(grant No.81970847).
文摘Background:Spontaneously resolved primary congenital glaucoma is rare and the mechanism remains unknown.Previous literature described the phenomenon of spontaneous resolution of primary congenital glaucoma,with no further reports on follow-up visits and visual development of patients.We report a case of unilateral spontaneously resolved primary congenital glaucoma at a 7-year follow-up visit and describe the differential development of axial length(AL)between affected eye and healthy eye.Case Description:A 6-year-old boy firstly presented at Zhongshan Ophthalmic Center with expanded corneas and ruptures in Descemet’s membranes(Haab’s striae)and apparently thin retinal nerve fiber layer(RNFL)in the left eye(LE),but normal intraocular pressure(IOP)of both eyes without anti-glaucoma medications or surgeries.At 7-year follow-up,the IOPs of bilateral eyes were stable ranging from 8 to 11 mmHg.A cup to disc ratio and the RNFL was stable in the LE at the following visit.The AL increased almost 3 mm in the right eye(RE)but 1.5 mm in the LE.Without anti-glaucoma medications or surgeries,the primary congenital glaucoma was spontaneously resolved.Conclusions:It may figure out the development and influence of the affected eye of the patient,including AL and refraction state with regular ophthalmic examination at periodic follow-up.
文摘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.
文摘Background： Early surgical intervention is required for the primary congenital glaucoma （PCG）. There are currently few reports on the surgical outcomes in infants with PCG. This study aimed to evaluate the efficacy and safety oftrabeculotomy and the postoperative visual outcomes in Chinese newborns with PCG within 4 weeks of birth. Methods： A total of 21 eyes of 12 patients with PCG who underwent primary trabeculotomy within 4 weeks of birth were retrospectively studied. Preoperative and postoperative intraocular pressure （lOP）, corneal clarity and diameter, axial length and optic disc cupping, visual acuity and postoperative refractive error, success rates, and complications were evaluated. Kaplan-Meier survival analysis was applied to evaluate the success rates. Results： The mean follow-up time was 46.9 ~ 34.4 months （range： 12-122 months）. The postoperative lOP was significantly lower than the preoperative lOP at all of the follow-up visits （P 〈 0.001 ）. The complete success rates for all eyes at 1,2, 3, and 5 years postoperatively were 90.5%, 85.7%, 85.7%, and 85.7%, respectively. The lOPs of the three patients who needed antiglaucomatous medications postoperatively were also well controlled. At the last visit, the cornea became clear, and the cup-to-disc ratio decreased significantly （P = 0.01） although the horizontal corneal diameter did not change significantly （P = 0.11 ）. Visual acuities were able to be recorded in eight eyes at the last visit, among which six eyes had a best-corrected visual acuity of 20/40 or better. There were no severe intraoperative or postoperative complications. Conclusions： Trabeculotomy proves to be a safe and effective treatment in reducing lOP in this group of Chinese newborns with PCG. The outcomes of vision function were satisfactory in most of the patients.
文摘Background Surgical interventions are the main treatment for primary congenital glaucoma （PCG）. This study aimed to compare the efficacy and safety between viscocanalostomy and mitomycin C （MMC）-trabeculectomy in patients with PCG. Methods A total number of 43 patients with PCG who underwent either viscocanalostomy （group 1） or MMC- trabeculectomy （group 2） between June 2003 and June 2008 were retrospectively reviewed. The patients＇ intraocular pressures （lOPs） were examined before surgery and on day 1, week 1, month 1, month 6, and month 12 post-operative. Mean horizontal corneal diameters, success rates, intra- and post-operative complications were compared between the two groups. Results Pre-operative lOPs were （31.96±3.90） mmHg in group 1 and （32.56±4.00） mmHg in group 2. At the last visit, lOPs were （16.78±2.20） mmHg and （15.77±2.60） mmHg, respectively （P 〈0.001）; the complete success rates of group 1 and group 2 were 45.9% and 67.4%, respectively, and the difference was not statistically significant （P=0.158）. There were no major complications occurred in the two groups. Conclusions Both viscocanalostomy and trabeculectomy can lower lOP in PCG patients effectively. Although there was no major complications occurred in both groups, viscocanlostomy may decrease the probability of postoperative haemorrhage, hypotony, cataract, or choroid effusion.
文摘目的了解中国人群原发性先天性青光眼患者CYP1B1基因突变及其分布情况。方法检索Pub Med、Web of Science、CNKI、万方等数据库,收集公开发表的有关中国人群原发性先天性青光眼患者CYP1B1基因突变筛查研究文献。采用系统评价的方法评价文献质量,提取相关数据,运用Freeman-Tukey双反正弦变换法对基因突变率进行合并计算,收集并获得我国原发性先天性青光眼患者的CYP1B1基因突变谱。结果共纳入9篇文献,包括434例原发性先天性青光眼患者,其中69例存在CYP1B1基因突变,合并突变率为15.2%（95%可信区间11.8%~19.0%）。共发现43种突变,基因突变谱分散,以7990C〉T（L385F）、8006G〉A（R390H）、4124C〉G（L107V）三种突变频率最高,比较发现L107V是中国原发性先天性青光眼人群CYP1B1基因特有的变异位点。结论中国原发性先天性青光眼患者的CYP1B1基因突变率较低,提示该人群中存在除CYP1B1基因以外的其他致病基因。收集获得的CYP1B1基因突变谱可为今后原发性先天性青光眼人群基因突变筛查提供参考。
文摘目的:了解原发性先天性青光眼患者致病基因CYP1B1(Cytochrome P450 family 1 subfamily B polypeptide 1)的变异情况。方法:采用高分辨率熔解(high-resolution melting,HRM)方法,分析20例原发性先天性青光眼患者的CYP1B1基因热点突变区,同时采用测序的方法验证HRM的检测结果。结果:检出g.6767C>T(p.D449D)变异2例,g.2527C>G(p.R48G)变异1例,两种变异共存者1例。结论:在CYP1B1基因突变筛查方法中,HRM具有高度的灵敏性和特异性,可用于筛查原发性先天性青光眼。PCG的原因可能与g.6767C>T(p.D449D)和g.2527C>G(p.R48G)的变异有关;两种变异共存者可能导致更严重的PCG。
