primary congenital glaucoma
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2022 ◽  
Vol 11 (2) ◽  
pp. 414
Author(s):  
Luigi Fontana ◽  
Alberto Neri

Purpose: The purpose of this study was to report the long-term efficacy and clinical outcomes of microcatheter-assisted circumferential trabeculotomy (MCT) in children with primary congenital glaucoma (PCG). Methods: This is a single-center retrospective study including consecutive children with PCG who underwent MCT with > two years follow up. The primary outcome was surgical success, defined as intraocular pressure (IOP) ≤ 21 mmHg with (qualified) or without (complete) medications, measured at six months, one year, and then annually. Secondary outcomes were visual acuity (VA), refraction, axial length (AXL), complications, reinterventions, and number of medications. Results: Twelve eyes of ten patients were included. In eight children only one eye was affected. The mean ± standard deviation (SD) age at surgery was 6.3 ± 4.1 months. The mean postoperative follow-up was 66 ± 35 months. The mean IOP was 34.3 ± 9.6 mmHg preoperatively and 14.6 ± 2.3 mmHg postoperatively at the last visit (p < 0.001). Complete success was achieved at all time points in 10 out of 12 eyes, while 2 eyes had a qualified success. At three years of age, the mean VA of the operated eyes was 0.25 ± 0.12 logMAR, the mean spherical equivalent was −0.78 ± 1.43 diopters, and the mean AXL was 23.78 mm. Transient hyphema was the only complication observed. None of the children required additional glaucoma surgery. Conclusions: Circumferential trabeculotomy for PCG effectively lowers the IOP at more than two years after surgery. Following this procedure, the prognosis for the visual function is good, and the refractive error is low. Postoperative complications were not significant.


2022 ◽  
pp. 112067212110732
Author(s):  
Tejal Magan ◽  
Alexander Tanner ◽  
Julia Fajardo-Sanchez ◽  
Kin Sheng Lim ◽  
Saurabh Goyal ◽  
...  

Aim To determine the long-term outcomes of a cohort of complex patients with primary congenital glaucoma, aniridia and anterior segment dysgenesis. Methods Retrospective consecutive series between 1990–2021 in two UK tertiary centres: Guy's and St Thomas’ NHS Foundation Trust and King's College Hospital NHS Foundation Trust. We recorded the number and types of surgical and laser treatments along with preoperative and postoperative data, including intraocular pressures (IOP) and anti-glaucoma medications. Results A total of 41 eyes of 21 patients were included. Primary diagnoses were primary congenital glaucoma in 16 eyes (39.0%), aniridia in 14 eyes (34.2%), and anterior segment dysgenesis in 8 eyes (19.5%). Sixteen eyes (39.0%) had one or more glaucoma surgery or laser procedures for advanced glaucoma, and the long-term follow-up was 12.8 ± 3.6 years. There was a significant decrease in postoperative IOP (mmHg) at 3 months (16.5 ± 1.6; p = 0.0067), 6 months (18.7 ± 2.1; p = 0.0386), 12 months (18.6 ± 1.7; p = 0.0229), 3 years (14.7 ± 1.2; p = 0.0126), 5 years (15.5 ± 1.8; p = 0.0330) and 10 years (15.4 ± 2.3; p = 0.7780), compared to preoperatively (24.1 ± 2.6). Surgical success (complete and qualified) was 62.5%, 50.0%, 43.8%, 46.2%, 45.5% and 28.6% at 3 months, 6 months, 12 months, 3 years, 5 years and 10 years, respectively. There was no significant change in the number of anti-glaucoma drugs postoperatively ( p > 0.05). Four eyes (25.0%) had postoperative complications (hyphaema, hypotony) that resolved after conservative management. Conclusions Surgical management of these complex eyes with advanced glaucoma is challenging. Overall, the cohort had good surgical outcomes with a significant decrease in IOP by 36.1% after long-term follow-up.


Eye ◽  
2022 ◽  
Author(s):  
Laura Morales-Fernandez ◽  
Pilar Pérez-García ◽  
José Ignacio Fernández-Vigo ◽  
Federico Saenz-Frances ◽  
Sofia Garcia-Saenz ◽  
...  

2022 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Shahin Yazdani ◽  
Mohammad Pakravan ◽  
Ebrahim Gerami ◽  
Azadeh Doozandeh ◽  
Hamed Esfandiari ◽  
...  

2022 ◽  
Vol Volume 16 ◽  
pp. 43-49
Author(s):  
Marwa A Khairy ◽  
Said Kenawy ◽  
Khaled Mohamed Fawzi ◽  
Haitham Y Al-Nashar

2021 ◽  
Vol 12 ◽  
Author(s):  
Yunsheng Qiao ◽  
Yuhong Chen ◽  
Chen Tan ◽  
Xinghuai Sun ◽  
Xueli Chen ◽  
...  

Purposes: Recent studies have suggested that loss-of-function mutations of the tunica intima endothelial receptor tyrosine kinase (TEK) are responsible for approximately 5% of primary congenital glaucoma (PCG) cases in diverse populations. However, the causative role of TEK mutations has not been studied in Chinese PCG patients. Here, we report the mutation spectrum of TEK after screening a large cohort of PCG patients of Chinese Han origin and analyze the identified variants in functional assays.Methods: TEK-targeted next-generation sequencing (NGS) was performed in 200 PCG patients. Candidate variants were prioritized by mutation type and allele frequency in public datasets. Plasmids containing wild type and identified variants of TEK were constructed and used to assess protein expression, solubility, receptor auto-phosphorylation, and response to ligand stimulation in cell-based assays.Results: Ten missense and one nonsense heterozygous variants were detected by NGS in 11 families. The clinical features of TEK variants carriers were comparable to that of TEK-mutated patients identified in other populations and CYP1B1-mutated individuals from in-house database. Functional analysis confirmed four variants involving evolutionarily conserved residues to be loss-of-function, while one variant (p.R1003H) located in tyrosine kinase domain seemed to be an activating mutation. However, our results did not support the pathogenicity of the other five variants (p.H52R, p.M131I, p.M228V, p.H494Y, and p.L888P).Conclusion: We provide evidence for TEK variants to be causative in Chinese PCG patients for the first time. Attention needs to be paid to TEK mutations in future genetic testing.


2021 ◽  
pp. 112067212110512
Author(s):  
Mozhgan Rezaei Kanavi ◽  
Shahin Yazdani ◽  
Elahe Elahi ◽  
Mehraban Mirrahimi ◽  
Maryam Hajizadeh ◽  
...  

Background/Objectives This study aims to report the developmental and histopathological features of ocular tissues from an electively aborted human fetus with mutations in cytochrome p4501B1, and thus predisposed to primary congenital glaucoma in comparison to an age-matched healthy fetal globe. Subjects/Methods Both eyes of two 17-week gestational aged fetuses, the first with CYP1B1 mutations and the second as healthy control fetus, were studied. Hematoxylin and eosin, Periodic acid–Schiff, Gomori’s trichrome, and Verhoeff–Van Gieson staining protocols in addition to immunohistochemistry staining using anti-cytochrome p4501B1, anti-fibrillin-1, and anti-4-hydroxy-2-nonenal antibodies, as primary antibodies, were performed to assess the effect of the mutations on tissue development, cytochrome p4501B1 protein expression, extracellular matrix structure, and oxidative stress in the developing fetus eye. Quantitative analyses were performed using ImageJ software. Student’s t-test was used for statistical analysis and P-values <0.05 were considered as significant. Results Delayed development in ocular tissues, decreased expression of cytochrome p4501B1 protein, irregular extracellular matrix structure, and increased oxidative stress biomarker were evident in the ocular tissues of the fetus with cytochrome p4501B1 mutations as compared to a normal globe from an age-matched fetus. Conclusion To the best of our knowledge, this is the first report of prenatal diagnosis of primary congenital glaucoma. We also describe histopathological changes in the primary congenital glaucoma-affected globes revealing the effect of cytochrome p4501B1 deficiency on ocular tissues during early fetal development contributing to the glaucoma phenotype.


2021 ◽  
Vol 1 ◽  
Author(s):  
Hind A. Al Dalgan ◽  
Ibrahim A. Al Obaida ◽  
Adi M. Al Owaifeer ◽  
Khabir Ahmad ◽  
Rizwan Malik

BackgroundPrimary congenital glaucoma (PCG) is a challenging condition to diagnose, treat and effectively monitor. Serial assessment of intraocular pressure (IOP), optic disc cupping, refraction, and axial length (AxL) after surgery are useful to assess disease control. This study aimed to evaluate AxL changes in relation to IOP changes following glaucoma surgery in children with PCG.MethodsWe retrospectively studied AxL changes in children with PCG undergoing surgery. Eyes of children aged ≤ 4 years that did not have prior ocular surgery and that underwent at least one glaucoma surgery during the course of follow-up between June 2014 and July 2018, were included. The effect of change in IOP on change in AxL was estimated using linear mixed effects models.ResultsA total of 105 eyes (of 72 children) with PCG underwent glaucoma surgery representing 26.4% (105/397) eyes. The mean ± SD age of children at baseline was 3.53 ± 4.04 months. At baseline, the mean IOP and AxL were 26.63 ± 9.57 mmHg and 21.67 ± 1.82 mm, respectively. During the course of follow-up post-surgery, the IOP decreased by a mean of 7.25 ± 12.08 mmHg while the AxL increased by a mean of 0.70 ± 1.40 mm. A multivariable mixed effects linear regression revealed that change in AxL was significantly associated with change in IOP (p=0.030) and time since first surgery (p&lt;0.001). A substantial reduction in IOP (≥35 mmHg) was needed at 3 months post-surgery, for AxL to regress.ConclusionIn children with PCG who undergo glaucoma surgery, change in IOP significantly influences change in AxL. For AxL to regress, a substantial reduction in IOP is needed post-surgery.


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