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PURPOSE: To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population. STUDY DESIGN: Molecular genetic analysis. METHODS: Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families. We examined the CYP1B, FOXC1, and MYOC genes using Sanger sequencing and whole-exome sequencing (WES). RESULTS: For CYP1B1, we identified 9 families that harbored novel mutations, p.A202T, p.D274E, p.Q340*, and p.V420G; the remaining mutations had been previously reported. When mapped to the CYP1B1 protein structure, all mutations appeared to influence the enzymatic activity of CYP1B1 by provoking structural deformity. Five patients were homozygotes or compound heterozygotes, supporting the recessive inheritance of the CYP1B1 mutations in CG. In contrast, four patients were heterozygous for the CYP1B1 mutation, suggesting the presence of regulatory region mutations or strong modifiers. For the FOXC1 gene, we identified 3 novel mutations, p.Q23fs, p.Q70R, and p.E163*, all of which were identified in a heterozygous state. No mutation was found in the MYOC gene in these CG patients. All individuals with CYP1B1 and FOXC1 mutations were severely affected by early-onset CG. In the CYP1B1-, FOXC1-, and MYOC-negative families, we also searched for variants in the other candidate genes reported for CG through WES, but could not find any mutations in these genes. CONCLUSIONS: Our analyses of 29 CG families revealed 9 families with point mutations in the CYP1B1 gene, and four of those patients appeared to be heterozygotes, suggesting the presence of complex pathogenic mechanisms. FOXC1 appears to be another major causal gene of CG, indicating that panel sequencing of CYP1B1 and FOXC1 will be useful for diagnosis of CG in Japanese individuals.
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PURPOSE: To compare modified viscotrabeculotomy (VCO-Tbo) to modified trabeculotomy (Tbo) in late-onset primary congenital, juvenile open-angle, steroid-induced, and pigmentary glaucoma. METHODS: Patients were randomly assigned to VCO-Tbo and Tbo groups in this study. Intraocular pressure (IOP), antiglaucoma medications, and success/failure rates were assessed. A linear mixed model was used to compare the change trend at different follow-up times. Survival time was evaluated using the Kaplan-Meier graph and Log-Rank test. RESULTS: The mean IOP at 1, 3, and 12 months in the VCO-Tbo group was 14.1 ± 3.1, 15.9 ± 3 and 17 ± 3.1 mmHg, respectively. The mean IOP at the same time points in the Tbo group was 15.9 ± 3.3, 17.6 ± 3.5 and 18.4 ± 3.2 mmHg (P = 0.051, 0.058, 0.088, respectively). The VCO-Tbo group had significantly lower IOP after six months (16.5 ± 4.1 mmHg vs. 18.7 ± 3.8 mmHg; p = 0.031) and by the last visit (16.8 ± 2.1 mmHg vs. 18.8 ± 2 mmHg; p = 0.013). The reduction in the number of medications was significant in both groups compared to baseline (P < 0.001), but there was no significant difference between groups (P = 0.450). The complete and qualified success rate was 43.9% and 34.1% in the VCO-Tbo group and 46.8% and 10.6% in the Tbo group at the final follow-up (p = 0.040, and 0.039, respectively). CONCLUSION: Both procedures are effective in IOP and medication reduction. The survival time and efficacy of modified trabeculotomy can be augmented by injecting cohesive viscoelastic in the Schlemm's canal.
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Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic factors. Disruption of any of these processes results in congenital anomalies in the affected tissue(s) leading to anterior segment disorders (ASD) including aniridia, Axenfeld-Rieger anomaly, congenital corneal opacities (Peters anomaly, cornea plana, congenital primary aphakia), and primary congenital glaucoma. Current understanding of the genetic factors involved in ASD remains incomplete, with approximately 50% overall receiving a genetic diagnosis. While some genes are strongly associated with a specific clinical diagnosis, the majority of known factors are linked with highly variable phenotypic presentations, with pathogenic variants in FOXC1, CYP1B1, and PITX2 associated with the broadest spectrum of ASD conditions. This review discusses typical clinical presentations including associated systemic features of various forms of ASD; the latest functional data and genotype-phenotype correlations related to 25 ASD factors including newly identified genes; promising novel candidates; and current and emerging treatments for these complex conditions. Recent developments of interest in the genetics of ASD include identification of phenotypic expansions for several factors, discovery of multiple modes of inheritance for some genes, and novel mechanisms including a growing number of non-coding variants and alleles affecting specific domains/residues and requiring further studies.
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PURPOSE: Primary Congenital Glaucoma (PCG) is a potentially blinding disease, and the search for the best surgical option always remains. This study investigated the efficacy of Bent Ab-interno Needle Goniectomy (BANG) compared to the established standard of traditional goniotomy. DESIGN: Parallel group Randomized Controlled Trial PARTICIPANTS: Infants with PCG aged one month to one year with similar clinical features in both eyes. INTERVENTION: The two eyes of eligible patients were randomized to either goniotomy or BANG using a 25-gauge needle bent as a reverse cystitome, and the surgeries were done on the same day in both eyes. Postoperatively each infant was followed up for a minimum period of one year. MAIN OUTCOME MEASURES: The primary outcomes measured were intraocular pressure (IOP) control and the requirement for antiglaucoma medications (AGMs). The secondary outcome measures included corneal clarity enhancement, axial length stability, incidence of surgical complications or the need for repeat surgery. RESULTS: Eight infants with both eyes eligible, were included. In each infant, one eye was randomized to BANG and the other to conventional goniotomy. The mean age was 7.6±3.6 months. There was no significant difference in the mean preoperative IOP (16.8 +8.87 mm Hg versus 17+6.0 mm Hg; p=0.48) in eyes randomized to goniotomy or BANG. The mean number of AGMs (1.7±1.11 versus 2+0.81 respectively; p=0.26) were similar in both groups. Postoperatively, the IOP at 6 months (14.05 + 4.1 vs 16.2+4.07; p=0.22) and one year (15.3 ± 3.4 versus 17.1 + 3.0; p=0.15) were similar in eyes that underwent goniotomy or BANG respectively. Both procedures demonstrated significant improvements in corneal clarity and maintained normal axial length growth. However, the BANG group required slightly more AGMs than the goniotomy group. There were no serious complications in either group. Both eyes of one patient required repeat surgery for IOP control and underwent a combined trabeculotomy with trabeculectomy at nine months and one year post-operatively, respectively. CONCLUSIONS: This study indicates that goniotomy remains an effective surgical treatment for PCG. The absence of discernible superiority in IOP control or overall outcomes implies that the added complexity of excising the trabecular meshwork in BANG may not confer additional benefits over the established approach.
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Primary congenital glaucoma (PCG), a developmental glaucoma occurring due to angle anomaly, earns growing concerns among ophthalmologists for its vision-damaging attribute. The incidence of PCG varies among races and geographic regions and is mostly genetically associated. Theories have been posed in attempt to address the etiology of this congenital maldevelopment and in the meanwhile providing evidence for feasibility of PCG surgeries. In regard to the clinical aspects of this entity, both the clinical characteristics and general principals of management are introduced, with angle surgeries highlighted for clarifying details including their success rates, key points for a successful surgical intervention, postoperative management, and follow-up strategies. Taking patients' vision-associated quality of life into consideration, we stressed that further perceptual learning and low vision rehabilitation are momentous. However, much has yet to be elucidated in respect of the truly comprehensive pathogenesis underneath as well as means by which clinical outcomes of PCG can be further improved. We are now looking forward to innovative therapeutic approaches like gene therapy in specific genes in the future, with the hope of improving their life-long visual quality in those young patients.
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BACKGROUND: Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants. METHODS: We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention Study (births 1997-2011), a U.S. multicenter study of birth defects. Samples underwent exome sequencing and sequence reads were aligned to the human reference sample (NCBI build 37/hg19). Variant filtration was conducted under de novo and Mendelian inheritance models using GEMINI. RESULTS: Among candidate variants, CYP1B1 was most represented (five trios, 13.5%). Twelve probands (32%) had potentially pathogenic variants in other genes not previously linked to PCG but important in eye development and/or to underlie Mendelian conditions with potential phenotypic overlap (e.g., CRYBB2, RXRA, GLI2). CONCLUSION: Variation in the genes identified in this population-based study may help to further explain the genetics of PCG.
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Citocromo P-450 CYP1B1 , Sequenciamento do Exoma , Exoma , Glaucoma , Humanos , Glaucoma/genética , Glaucoma/congênito , Citocromo P-450 CYP1B1/genética , Feminino , Masculino , Sequenciamento do Exoma/métodos , Estados Unidos , Exoma/genética , Mutação/genética , Predisposição Genética para Doença , Lactente , Recém-NascidoRESUMO
Background: Retinal detachment is a major postsurgical threat in pediatric cataract surgery; however, the effect of axial length remains unclear. This study aimed to assess the relationship between axial length and detachment risk in vulnerable patients. Methods: This retrospective cohort study analyzed 132 eyes of 84 pediatric cataract surgery patients aged <20 years old. Axial length was measured preoperatively, and the incidence of retinal detachment was recorded over a median follow-up of 4 years. Logistic regression analysis was used to examine the axial length-detachment relationship. Results: Twenty eyes had postoperative retinal detachments. The median axial length was longer in the detachment group (23.6 mm) than in the non-detachment group (21.6 mm). Eyes with axial length ≤23.4 mm had 0.55-fold decreased odds of detachment compared to longer eyes. Preexisting myopia and glaucoma confer heightened risk. Approximately half of the patients retained some detachment risk eight years postoperatively. Conclusion: Shorter eyes (axial length ≤23.4 mm) appear to be protected against pediatric retinal detachment after cataract surgery, whereas myopia, glaucoma, and axial elongation > 23.4 mm elevate the postoperative risk. Understanding these anatomical risk profiles requires surgical planning and follow-up care of children undergoing lensectomy.
This study investigated the protective role of a shorter axial length in preventing retinal detachment after pediatric cataract surgery. This highlights the correlation between smaller eye sizes and reduced detachment risk, emphasizing the need for careful consideration of anatomical factors in surgical planning and patient monitoring, particularly for patients with preexisting myopia or postoperative glaucoma.
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PURPOSE: To evaluate the safety and efficacy of the PAUL Glaucoma Implant (PGI) for managing refractory primary congenital glaucoma (PCG) over a one-year period. STUDY DESIGN: Retrospective. METHODS: A study was conducted using the medical records of thirty eyes of 17 patients who underwent PGI surgery for the treatment of refractory PCG. Primary outcome measures included failure criteria such as intraocular pressure (IOP) > 21 mm Hg, < 20% IOP reduction, necessity for further glaucoma intervention, implant removal, or loss of vision. Secondary outcomes focused on mean IOP, average number of glaucoma medications, best corrected visual acuity (logMAR), and incidence of complications. RESULTS: The mean preoperative IOP of 38.8 ± 9.2 mmHg significantly decreased to 16.1 ± 3.3 mmHg at 12 months postoperatively (p < 0.001). The average number of glaucoma medications reduced from 3.6 ± 0.5 preoperatively to 0.9 ± 1.2 at 12 months post-op. Visual acuity remained stable in 24 eyes, decreased in 4, and increased in 2. Early postoperative complications occurred in 13.3% of patients, but no late complications were reported. The cumulative success rate was 86.6%. CONCLUSION: The PGI appears to be a safe and effective option for managing refractory primary congenital glaucoma, demonstrating significant IOP reduction and decreased dependence on glaucoma medications over a one-year period, with a high success rate and manageable complication profile.
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Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.
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Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis and unlocking the potential for optimising clinical management. In this study, we investigated 86 CG cases from 78 unrelated families of diverse ethnic backgrounds, recruited into the Genomics England 100,000 Genomes Project (GE100KGP) rare disease cohort, to improve the genetic diagnostic yield. Using the Genomics England/Genomic Medicine Centres (GE/GMC) diagnostic pipeline, 13 unrelated families were solved (13/78, 17%). Further interrogation using an expanded gene panel yielded a molecular diagnosis in 7 more unrelated families (7/78, 9%). This analysis effectively raises the total number of solved CG families in the GE100KGP to 26% (20/78 families). Twenty-five percent (5/20) of the solved families had primary congenital glaucoma (PCG), while 75% (15/20) had secondary CG; 53% of this group had non-acquired ocular anomalies (including iris hypoplasia, megalocornea, ectopia pupillae, retinal dystrophy, and refractive errors) and 47% had non-acquired systemic diseases such as cardiac abnormalities, hearing impairment, and developmental delay. CYP1B1 was the most frequently implicated gene, accounting for 55% (11/20) of the solved families. We identified two novel likely pathogenic variants in the TEK gene, in addition to one novel pathogenic copy number variant (CNV) in FOXC1. Variants that passed undetected in the GE100KGP diagnostic pipeline were likely due to limitations of the tiering process, the use of smaller gene panels during analysis, and the prioritisation of coding SNVs and indels over larger structural variants, CNVs, and non-coding variants.
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Glaucoma , Humanos , Glaucoma/genética , Glaucoma/diagnóstico , Masculino , Feminino , Criança , Pré-Escolar , Citocromo P-450 CYP1B1/genética , Mutação , Lactente , Genômica/métodos , Linhagem , Adolescente , Fatores de Transcrição ForkheadRESUMO
Glaucoma is a prevalent neurodegenerative disease. It causes progressive visual loss and is one of the most common causes of blindness worldwide. It can be categorized into open-angle or closed-angle glaucoma. Primary congenital glaucoma (PCG) is a subdivision of open-angle glaucoma. Non-penetrating deep sclerectomy (NPDS) is a surgical method for managing open-angle and primary congenital glaucoma, which was first introduced in 1990. During NPDS, a sclera flap is raised but not completely removed, and the outer part of Schlemm's canal and trabecular meshwork, along with the juxtacanalicular tissue, are excised without completely penetrating the eye. Therefore, it is considered a safe and efficient option for controlling intraocular pressure. This report shows a unique case of uncommon complication post-deep sclerectomy, a giant retinal tear, after undergoing non-penetrating deep sclerectomy for primary congenital glaucoma.
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Detectar y caracterizar los defectos del campo visual (CV) mediante perimetría Octopus en pacientes con glaucoma congénito primario (GCP) y determinar la calidad y duración del CV. Material y métodos: Se incluyeron 88 ojos de 70 pacientes diagnosticados de GCP. Las evaluaciones se realizaron con un Octopus 900 y cada ojo se evaluó con el algoritmo de perimetría orientada por tendencias (G-TOP). Se recogieron datos cuantitativos de CV: datos de calidad (respuestas falsa positiva y negativa, y duración del tiempo) y resultados de desviación media (DM) y raíz cuadrada de la varianza de pérdida (sLV). También se recogieron datos cualitativos: presencia de defectos difusos y localizados, hemicampo afectado y grado de defectos utilizando la clasificación de Aulhorn y Karmeyer. Se analizaron las correlaciones entre los resultados perimétricos y las variables clínicas. Resultados: La mediana de edad fue de 11 (8-17) años. El 65,9% (58/88) de los ojos con GCP presentaban defectos de CV. Se observaron defectos difusos en 10/58 ojos (16,94%) (DM media=23,92 [DE: 2,52]) dB) y defectos localizados en 48/58 ojos (82,75%). El defecto más frecuente fue el escotoma incipiente paracentral (n=15), el escalón nasal (n=8), el defecto arciforme añadido (n=2), el semianular (n=13) y el defecto concéntrico con isla central (n=9). El hemicampo visual afectado con mayor frecuencia fue el inferior. La duración media de la prueba fue de 2min 12s (DE: 21,6s). Los valores MD y sLV se correlacionaron con la agudeza visual mejor corregida, la relación excavación/disco y el número de cirugías de glaucoma (todas p<0,001). Conclusión: Se identificó un alto número de defectos difusos y localizados utilizando la perimetría Octopus en pacientes con GCP. El defecto más frecuente fue el escotoma paracentral, y el hemicampo inferior fue el más afectado.(AU)
Purpose: To detect and characterise visual field (VF) defects using static Octopus perimetry in patients with primary congenital glaucoma (PCG) and to determine VF quality and time duration. Material and methods: Eighty-eight eyes of 70 patients diagnosed with PCG were included. Assessments were performed using an Octopus 900 and each eye was assessed with the tendency-oriented perimetry (G-TOP) algorithm. Quantitative VF data were collected: quality data (false positive and negative response, and time duration) and results of mean deviation (MD) and square root of loss variance (sLV). Qualitative data were collected: the presence of diffuse and localized defects, the affected hemifield and grade of defects using the Aulhorn and Karmeyer classification. Correlations between perimetric results and clinical variables were analysed. ResultsMedian age was 11 (8-17) years. 65.9% (58/88) of PCG eyes showed VF defects. Diffuse defects were observed in 10/58 eyes (16.94%) (mean MD=23.92 [SD: 2.52]) dB) and localized defects in 48/58 eyes (82.75%). The most frequent defect was spot-like/stroke-like/incipient paracentral scotoma (n=15), nasal step (n=8), adding arcuate defect (n=2), half ring-shaped (n=13) and concentric defect with a central island (n=9). And the most frequent affected visual hemifield was inferior hemifield. Mean test duration was 2min 12s (SD: 21.6s). MD and sLV values were correlated with best corrected visual acuity (BCVA), cup to disc ratio and number of antiglaucoma surgeries (all P<.001). Conclusion: A high number of diffuse and localized defects were identified using Octopus perimetry in PCG patients. The most frequent defect was paracentral scotoma and inferior hemifield was the most affected.(AU)
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Humanos , Masculino , Feminino , Criança , Glaucoma , Testes de Campo Visual/métodos , Cegueira , Anormalidades do Olho , Oftalmologia , Pediatria , Visão OcularRESUMO
OBJECTIVE: To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings. MATERIALS AND METHODS: Two sisters diagnosed at birth with bilateral PCG, whose father had bilateral PCG and mother had bilateral microphthalmus, were subjected to a familial genetic study and ophthalmologic follow-up including intraocular pressure (IOP) measurement, and collection of biometric and cup-to-disc ratio data. RESULTS: The inheritance pattern was autosomal recessive in compound heterozygosis. The sisters were found to be carriers of three pathogenic allele variants of the CYP1B1 gene: c.317C>A (p.Ala106Asp) and c.1345delG (p.Asp449MetfsTer8) in one patient (10 years) and c.1345delG (p.Asp449MetfsTer8) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter) in her older sister (12 years). Surgical histories included: three goniotomies and two Ahmed valves in each eye, and two trabeculectomies and a pupilloplasty in the right eye in the 10-year old; and one goniotomy, trabeculectomy and three Ahmed valves in each eye in the older sister. Currently, both sisters have a controlled intraocular pressure of 18-20 mmHg in both eyes. The father is blind in both eyes and carries two variants c.317C>A (p.Ala106Asp) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter). The mother with a single variant c.1345delG (p.Asp440MetfsTer8) has a prosthetic right eye and microphthalmus left eye. CONCLUSIONS: The sisters were found to show two different allelic CYP1B1 variants (compound heterozygosis) with different repercussions on the clinical severity of PCG. These findings highlight the importance of genetic screening of affected families.
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AIM: To report on the outcome of subsequent interventions after failed initial intervention for primary congenital glaucoma (PCG). METHODS: Retrospective chart review of children presenting with PCG and failed the initial glaucoma surgery in Alexandria Main University Hospital from 2005 to 2017. The data included demographics, preoperative, operative and postoperative clinical characteristics. Success was defined as IOP<16mmHg and <20% from the presenting IOP and C/D ratio like or better than presentation. RESULTS: The charts of 531 (260 right, 49%) eyes of 360 (224 males, 62%) children presenting with PCG and failed the initial glaucoma surgery (58 [31 right, 53%] eyes [10.9%] of 50 [28 males, 56%] children) revealed that at initial presentation, the mean±standard deviation (range, median) of the age of the children subjected to one successful glaucoma procedure and the study children was 8.6±11.7 (0.6-109, 5.2) and 4.9±6.1 (0.5-34.4, 3.0) months, respectively. Each of the study eyes was subjected to 2.6±0.8 (2-5.2) glaucoma procedures. The mean±standard deviation (range, median) duration between the initial and second glaucoma surgery and the duration of follow-up was 6.9±7.8 (0.7-39,3.9) and 61.5±32.1 (12.0-139.1, 60.1) months, respectively. At the final follow-up visit success was reported in 41 (70.1%) eyes by IOP<16mmHg criterion, 39 (67.2%) eyes by IOP>20% reduction criterion and in 28 (out of 35 eyes, 80.0%) by the optic nerve condition (C/D ratio) criterion. Success by all 3 criteria was reported in 25 (out of 35 eyes, 71%) eyes. CONCLUSIONS: A repeat glaucoma surgical procedure maybe needed in up to 11% of operated PCG eyes, with the subsequent glaucoma surgical procedures being successful by about 70%.
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Glaucoma , Trabeculectomia , Criança , Masculino , Humanos , Lactente , Trabeculectomia/métodos , Pressão Intraocular , Estudos Retrospectivos , Resultado do Tratamento , Glaucoma/diagnóstico , Glaucoma/epidemiologia , Glaucoma/cirurgia , SeguimentosRESUMO
BACKGROUND: This retrospective study aimed to evaluate the efficacy and safety of gonioscopy-assisted transluminal trabeculotomy (GATT) in Chinese patients with primary congenital glaucoma (PCG) and identify factors influencing surgical success. METHODS: Fourteen patients (24 eyes) diagnosed with PCG who underwent gonioscopy-assisted transluminal trabeculotomy were recruited, and data on intraocular pressure (IOP), antiglaucoma medication, surgery-related complications, and additional treatments were collected during preoperative and postoperative visits. Surgical success was defined as IOP ≤ 21 mmHg and a reduction of > 30% from baseline, with (partial success) or without (complete success) antiglaucoma medication. RESULTS: Mean preoperative IOP was 30.41 ± 6.09 mmHg. At the final visit, mean IOP reduction was 16.1 ± 9.1 mmHg (52%), and 19 of 24 eyes were topical medication-free. IOP was significantly decreased at each postoperative visit compared with baseline (P < 0.05 for all time points). Cumulative proportions of complete and partial success were 79.2% and 95.8%, respectively, at three years postsurgery. Patients without prior antiglaucoma procedures, without postoperative IOP spikes, and those undergoing complete trabeculotomy exhibited improved surgical prognosis. No permanent vision-threatening complications occurred in the 24 eyes by the end of the respective follow-ups. CONCLUSION: Gonioscopy-assisted transluminal trabeculotomy emerged as a safe and effective procedure for PCG treatment, characterized by outstanding IOP reduction efficacy and high surgical success rates.
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Glaucoma de Ângulo Aberto , Hipotensão Ocular , Trabeculectomia , Humanos , Trabeculectomia/métodos , Estudos Retrospectivos , Resultado do Tratamento , Seguimentos , Glaucoma de Ângulo Aberto/cirurgia , Gonioscopia , Agentes Antiglaucoma , Pressão IntraocularRESUMO
TOPIC: To identify patient-reported outcome measures (PROMs) that have been used in children and adolescents with glaucoma and to evaluate their methodologic quality. CLINICAL RELEVANCE: Childhood glaucoma impairs vision and quality of life (QoL) throughout all stages of life. Thus, a PROM needs to cover many different age groups and topics. Various instruments have been used to evaluate patient-reported outcomes (PROs) in patients with childhood glaucoma, however, it is unclear which PROM has the highest methodologic quality and complies best with the needs of patients with childhood glaucoma. METHODS: A systematic literature review was performed searching MEDLINE (PubMed), the Cochrane Library, Web of Science, and PsycINFO (EBSCO). We included peer-reviewed full-text articles of the past 10 years in English, German, or Spanish language that reported PROMs in children with glaucoma. The study selection and methodologic quality assessment of the identified PROMs was performed by 2 independent reviewers using a 7-point checklist. The content was mapped onto the World Health Organization International Classification of Functioning, Disability and Health. The systematic review was prospectively registered in PROSPERO (ID CRD42022353936). RESULTS: The search strategy retrieved 3295 matches. A total of 2901 studies were screened, and 11 relevant articles were identified using 10 different instruments. The instruments addressed functional visual ability, vision-related QoL, health-related QoL, and life satisfaction. Six instruments were applicable for the use in children. Seven of the questionnaires received the highest number of positive ratings (5/7). None of the instruments considered the views of patients with childhood glaucoma during their development. CONCLUSION: This systematic review provides a descriptive catalog of vision-specific and generic health PRO instruments that have been used in childhood glaucoma cohorts. An instrument specifically developed for childhood glaucoma is lacking which might result in missing important factors, such as permanent treatment with eye drops, repeated surgeries, and heritability of the disease, when investigating the QoL in children with glaucoma. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Glaucoma , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Criança , Humanos , Glaucoma/fisiopatologia , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: Primary congenital glaucoma causes vision loss if intraocular pressure is uncontrolled. Nonpenetrating deep sclerectomy is effective in treating primary congenital glaucoma. However, the effects of inadvertent trabeculodescemetic window perforation remain unclear. METHODS: This retrospective cohort study included patients with primary congenital glaucoma who underwent nonpenetrating deep sclerectomy between 2014 and 2021. The perforation group had intraoperative trabeculodescemetic window perforations; the non-perforation group did not. The primary outcome was intraocular pressure between the groups over 15 months. The secondary outcomes included surgical success and complications. RESULTS: The study included 74 eyes of 44 patients. The cohort comprised 31 perforated and 43 non-perforated eyes. Both groups showed significant intraocular pressure reduction without significant between-group differences in complete (68 vs. 77%), qualified (19 vs. 9%), or failed (13 vs. 14%) treatments. The median intraocular pressure decreased from 39 to 14 mmHg in the perforation group and 35 to 12 mmHg in the non-perforation group. Of the 74 treated eyes, 68 (92%) showed no complications. CONCLUSIONS: An inadvertent trabeculodescemetic window perforation during nonpenetrating deep sclerectomy for primary congenital glaucoma did not significantly affect intraocular pressure outcomes compared to non-perforated cases over 15 months. Nonpenetrating deep sclerectomy reduced intraocular pressure regardless of intraoperative perforation in patients with primary congenital glaucoma. Perforation of the trabeculodescemetic window was associated with a low incidence of postoperative complications.
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BACKGROUND: Childhood glaucoma is a major cause of childhood blindness worldwide. The profile of childhood glaucoma has not been well characterized in sub-Saharan Africa. Thus, this study was designed to describe demographics, clinical features, managements of childhood glaucoma, and improvements in visual acuity (VA) and intraocular pressure (IOP) from baseline to final visit. METHODS: This retrospective study included glaucoma patients below 18 years old who were diagnosed between September 2019 to August 2022. Childhood glaucoma diagnosis and classification was made as per the Childhood Glaucoma Research Network Classification (CGRN). RESULTS: A total of 105 children (181 eyes) were diagnosed with glaucoma. The most common type of childhood glaucoma was primary congenital glaucoma (PCG) constituting (42%, n = 76 eyes, 95% confidence interval (CI), 34.7-49.5%; P = 0.037), followed by glaucoma suspect (22.1%, n = 40 eyes, 95% CI, 16.3-28.9%; P < 0.001) and juvenile open-angle glaucoma (JOAG) (15.5%, n = 28 eyes, 95% CI, 10.5-21.6%; P < 0.001). While the most common type of secondary glaucoma was steroid-induced glaucoma, followed by glaucoma following cataract surgery. Bilateral glaucoma was found in 72.4% (n = 76 children, 95% CI, 62.8-80.7%; P < 0.001) of children. In both primary and secondary glaucoma, boys were affected more than girls, in ratio of 2:1 and 2.7:1, respectively. The mean age at presentation for patients with PCG was 2.7 years. Close to 93.4% (71) of PCG eyes were managed surgically, of which majority underwent combined trabeculotomy and trabeculectomy (CTT). Most of secondary glaucoma cases were treated medically. Overall, 85.3% (111) of eyes had successful control of IOP ≤ 21 mmHg. CONCLUSION: PCG was the most common type of childhood glaucoma. One of a well-recognized challenge in developing countries, late presentation of patients with PCG, was also observed in our study. Which highlights, the need of increasing access to eye-care service and awareness of childhood glaucoma as a major public health issue. Steroid-induced glaucoma was the most common type of secondary glaucoma; appropriate measures should be taken to prevent this preventable glaucoma.
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Glaucoma de Ângulo Aberto , Glaucoma , Masculino , Criança , Feminino , Humanos , Pré-Escolar , Adolescente , Estudos Retrospectivos , Etiópia/epidemiologia , Centros de Atenção Terciária , Glaucoma/epidemiologia , EsteroidesRESUMO
Purpose: To describe a novel technique for repair of rhegmatogenous retinal detachment in an eye with a previous non-valved glaucoma drainage device, the Aurolab Aqueous Drainage Implant (AADI). Observations: A 5-year-old child with bilateral primary congenital glaucoma presented with an inferior retinal detachment (RD) in the left eye. The left eye had a history of multiple surgical interventions including combined trabeculotomy and trabeculectomy done twice, AADI implantation and subsequently phacoaspiration with IOL implantation, 18 months prior to presentation. The left eye retinal detachment was managed by scleral buckling technique using the plate of the AADI as a buckling element without its explantation. Conclusions: AND IMPORTANCE: Management of retinal detachment in eyes with a pre-existing glaucoma drainage device (GDD) is uniquely challenging. Explantation of the GDD would likely result in intractable glaucoma post-operatively, requiring another surgery. Use of the trimmed plate of the GDD itself as the buckling element helped in settling the RD and preserving intraocular pressure control.
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PURPOSE: Evaluation of long-term functional and structural outcomes in patients with primary congenital glaucoma (PCG) based on visual acuity (VA), visual field (VF) using standard automated perimetry, and peripapillary retinal nerve fibre layer thickness (pRNFL). METHODS: We retrospectively reviewed medical records of all patients diagnosed with PCG in Denmark from 1977 to 2016. Severe vision loss was defined as VA <6/60 and/or VF >20 decibels (dB). Prognostic factors were evaluated in a correlation matrix. RESULTS: The median age of the 94 patients (153 PCG eyes) was 12 years (IQR 9-16). In PCG eyes 62% had VA ≥6/18 but 22% had <6/60. VA in the better seeing eye was ≥6/18 in 90% and <6/60 in 5%. VF was measured in 59 PCG eyes and the median mean defect was 5.1 dB (IQR 2.1-9.6) with 52% better than 6 dB and 9% worse than 20 dB. Generalized pRNFL was reduced below the age-expected 1st percentile in 29% of the 58 PCG eyes where pRNFL was measured. Poor VA, poor VF and reduced pRNFL were all correlated (p = 0.0001). More surgeries (p < 0.0001) and longer diagnostic delay (p = 0.004) were associated with poorer vision and to a lesser degree with poor VF pRNFL. CONCLUSION: In Denmark, most patients with bilateral PCG retain VA ≥6/18 in the better seeing eye. Poor VA was associated with poor VF. Longer diagnostic delay and more surgeries were associated with a poorer prognosis.