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Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anophthalmia and one with bilateral microphthalmia that were investigated using whole exome sequencing (WES). We identified three causative mutations in three different genes. A new homozygous frameshift mutation c.[422delA];[422delA], p.[N141Ifs∗19];[N141Ifs∗19] in VSX2 was identified in a patient showing bilateral anophthalmia. A previously reported SOX2 deletion c.[70_89del20] p.[N24Rfs∗65];[=] was found in one subject with bilateral anophthalmia. A novel homozygous in-frame mutation c.[431_433delACT];[431_433delACT], p.[Y144del]; [Y144del]) in FOXE3 was identified in a patient with severe bilateral microphthalmia and anterior segment dysgenesis. This study shows that whole exome sequencing (WES) is a reliable and effective strategy for the molecular diagnosis of A/M. Our results expand its allelic heterogeneity and highlight the need for the testing of patient with this developmental anomaly.
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Anoftalmia/genética , Fatores de Transcrição Forkhead/genética , Proteínas de Homeodomínio/genética , Microftalmia/genética , Fatores de Transcrição SOXB1/genética , Fatores de Transcrição/genética , Egito , Mutação da Fase de Leitura , Humanos , Mutação , Fenótipo , Deleção de SequênciaRESUMO
The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems.
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Aldeído Oxirredutases/genética , Anoftalmia/genética , Códon sem Sentido/genética , Microftalmia/genética , Quiasma Óptico/anormalidades , Nervo Óptico/anormalidades , Aldeído Oxirredutases/metabolismo , Animais , Anoftalmia/metabolismo , Criança , Pré-Escolar , Exoma , Olho/crescimento & desenvolvimento , Olho/patologia , Feminino , Genoma , Homozigoto , Humanos , Lactente , Larva/genética , Larva/crescimento & desenvolvimento , Larva/metabolismo , Masculino , Microftalmia/metabolismo , Análise de Sequência de DNA , Análise de Sequência de RNA , Peixe-Zebra/embriologia , Peixe-Zebra/genéticaRESUMO
PRECIS: Gonioscopy-assisted transluminal trabeculotomy yielded a 45% reduction in intraocular pressure in primary congenital glaucoma, with a success rate of 86.6%. Hyphema was the most common complication. We did not encounter any vision-threatening complications. BACKGROUND: To assess the outcome of gonioscopy-assisted transluminal trabeculotomy (GATT) in primary congenital glaucoma (PCG) and identify the potential prognostic factors for adverse outcomes. METHODS: This prospective study included patients aged <14 years, presenting with PCG from November 2019 till November 2021. We excluded eyes with hazy cornea, secondary glaucoma, peripheral anterior synechiae ≥ 90°, and eyes in which the extent of GATT was <270°. Success was defined as a final intraocular pressure (IOP)<18 mmHg with IOP reduction>20%. Primary outcomes were reduction in IOP and medications, secondary outcomes were complications and correlation of IOP reduction and surgical success with possible risk factors. RESULTS: We included 60 eyes of 50 patients aged 1-156 months (mean: 25.5±36.5). A 353°±21° incision was created, with 85% achieving a 360° incision. There was a significant reduction in IOP and medications at all follow-up intervals up to 2 years, with a mean of 45% IOP reduction. The final success rate was 86.6%, with 76.7% being controlled without medications. There was a significant positive correlation between the preoperative cup-to-disc ratio (CDR) and failure rates (P=0.03) and between the incision extent and the IOP reduction (r=0.4, P=0.001). Hyphema was the most common complication, affecting 33%, and resolved spontaneously in all cases. No vision threatening complications occurred. CONCLUSION: GATT is a safe and effective procedure in eyes with PCG and clear cornea, including eyes that had previous failed glaucoma surgery. Circumferential GATT is associated with more favorable outcomes, while eyes with a larger CDR are at a higher risk for failure.
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PURPOSE: To study the fellow eyes of patients with unilateral primary congenital glaucoma (PCG) using optical coherence tomography angiography (OCTA) and compare them to normal age- and refractive error-matched healthy controls. METHODS: Using OCTA, the foveal avascular zone (FAZ) area, cup:disk ratio, vessel density (VD) of the optic nerve head (ONH) and peripapillary area and the macular VD in superficial (SCP) and deep vascular complexes in both 3 mm and 6 mm scans of both groups were compared. Clinical data included best-corrected visual acuity (BCVA), cycloplegic refraction, intraocular pressure (IOP), anterior and posterior segments examination findings, including ONH cup:disk ratio. RESULTS: A total of 48 eyes of 48 children (24 eyes in each group) were included. There was no difference in the mean retinal nerve fiber layer thickness, cup:disk ratio, baseline visual acuity, or spherical equivalent between groups (P > 0.05). In the 3 mm macular scan, the VD of the SCP at the fovea was significantly higher in the PCG group compared to controls (P = 0.04). In the ONH scans, there was a significantly reduced inside the disk VD in the PCG group compared to controls (P = 0.03). There was no significant difference in other macular and ONH vascular parameters between groups (P > 0.05). CONCLUSIONS: In our study cohort, there was no difference in most of the macular and ONH vascular parameters between groups. However, the fellow eyes of PCG patients exhibited higher VD of the SCP at the fovea and reduced inside the disk VD compared with control eyes.
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Angiofluoresceinografia , Pressão Intraocular , Macula Lutea , Disco Óptico , Vasos Retinianos , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Tomografia de Coerência Óptica/métodos , Masculino , Feminino , Disco Óptico/irrigação sanguínea , Disco Óptico/diagnóstico por imagem , Acuidade Visual/fisiologia , Vasos Retinianos/diagnóstico por imagem , Pressão Intraocular/fisiologia , Criança , Angiofluoresceinografia/métodos , Macula Lutea/irrigação sanguínea , Macula Lutea/diagnóstico por imagem , Pré-Escolar , Hidroftalmia/fisiopatologia , Hidroftalmia/diagnóstico , Células Ganglionares da Retina/patologia , Refração Ocular/fisiologia , Fibras Nervosas/patologia , Estudos RetrospectivosRESUMO
PURPOSE: To describe the prevalence and clinical characteristics of a large cohort of childhood glaucoma patients that presented to a tertiary Egyptian children's hospital using the childhood glaucoma research network (CGRN) classification. METHODS: A retrospective review of the medical records of all patients ≤ 14 years with a diagnosis of childhood glaucoma or glaucoma suspects who presented to Children's Hospital between January 2014 to December 2019 was conducted. Data collected included age at the time of diagnosis, gender, laterality, prenatal history, parental history, including consanguinity, intraocular pressure, horizontal corneal diameter, and cup-to-disc ratio. RESULTS: A total of 1113 eyes of 652 patients with diagnoses of either childhood glaucoma or glaucoma suspects were included in the study. Six hundred and sixteen patients (94%) were born full-term. A history of positive parental consanguinity was identified in 334 patients (51.2%). Almost 60% of patients were males. Primary congenital glaucoma (PCG) was the most prevalent diagnosis (68.2%), followed by glaucoma suspects (10.4%) and glaucoma following cataract surgery (GFCS) (8.4%). Juvenile open-angle glaucoma was the least prevalent category (0.3%). Other categories including glaucoma associated with non-acquired systemic disease, glaucoma associated with non-acquired ocular disease, and glaucoma associated with acquired conditions represented 5.8%, 4.7%, and 1.9%, respectively. CONCLUSIONS: PCG is the most common form of glaucoma in Egypt. More than half of the pediatric glaucoma patients had a positive history of parents' consanguinity.
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Glaucoma de Ângulo Aberto , Glaucoma , Hipertensão Ocular , Criança , Masculino , Humanos , Feminino , Glaucoma de Ângulo Aberto/diagnóstico , Egito/epidemiologia , Glaucoma/diagnóstico , Pressão Intraocular , Hipertensão Ocular/diagnóstico , Estudos RetrospectivosRESUMO
Purpose: To evaluate the one-year outcomes of gonioscopy-assisted transluminal trabeculotomy (GATT) in primary congenital glaucoma (PCG) with a history of prior glaucoma surgery. Methods: A retrospective chart review was performed to identify all PCG patients ≤ 16 years who underwent GATT surgery at Cairo University Children's Hospital from January 2016 to March 2022. Pre- and postoperative intraocular pressure (IOP) and glaucoma medications were collected at 1, 3, 6, 9, 12, and last follow-up visits. Success was defined as IOP ≤ 21 mmHg without (complete) or with (qualified) glaucoma medications at the last follow-up. Results: Seven eyes of 6 subjects were included in the study. The mean IOP was statistically significantly reduced from 25.7 ± 5.9 mmHg preoperatively to a mean IOP of 12 ± 1.5 mmHg (P = 0.001) at 12 months and 11.5 ± 1.2 mmHg (P = 0.001) at the last follow-up visit. Six eyes (85.7%) achieved complete success, and one eye (14.2%) achieved qualified success. No patients required further glaucoma procedures. No serious intra- or postoperative complications were identified. Conclusions: Our early experience highlights that GATT can be performed as an alternative procedure before considering conjunctival or scleral glaucoma surgeries.
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PURPOSE: To describe anterior chamber angle (ACA) structures and parameters in primary congenital glaucoma (PCG) and normal infant eyes, using Hand-held anterior segment optical coherence tomography (HH AS-OCT), as an in-office, non-contact technique. METHODS: Normal and PCG-infants <24 months were examined, using HH AS-OCT (RTVue RT- 100, Optovue Inc., Fremont, CA). Sedation was not required. Corneal pachymetry map, ACA width and iris thickness (IT) were measured. Trabecular meshwork (TM), Schlemm's canal (SC), and scleral spur (SS) identification were assessed in both groups. RESULTS: Forty-eight infants; (26 PCG-eyes and 22 normal-eyes) aged 9.12 ± 6.7 months, were included. Nasal and temporal ACA width in PCG infants was found significantly larger (39.3 ± 6.6° vs. 30.4 ± 5.6, and 40.1 ± 5.3° vs. 32.5 ± 6.2 respectively) (p < 0.001). IT was significantly reduced (121.7 ± 43.9 µm in PCG-infants, vs. 160.3 ± 38.6 µm in normal-eyes) (p < 0.01). TM was identified in all normal eyes (100%) and nine (34.6%) PCG- eyes. SC was identified in 16 (72.7%) normal eyes versus four (15.4%) PCG. In PCG-eyes, an abnormal structure occluding the angle was seen in seven (26.9%), and a hyper-reflective membrane in five (19.2%), the iris was anteriorly inserted in all PCG-eyes, and iridotrabeculodysgenesis was clearly identified (with constant iris anterior insertion). The abnormal tissue obscuring the angle was seen in younger PCG-infants and iris thinning appeared to be part of the pathology, not a result of IOP elevation. CONCLUSION: Using HH AS-OCT permits tomographic examination of the ACA in PCG infants and may help in the understanding of disease pathology. Hence, may assist in optimizing treatment.
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Glaucoma de Ângulo Fechado , Glaucoma , Câmara Anterior/diagnóstico por imagem , Câmara Anterior/patologia , Glaucoma/congênito , Glaucoma de Ângulo Fechado/diagnóstico , Humanos , Lactente , Pressão Intraocular , Iris/diagnóstico por imagem , Iris/patologia , Tomografia de Coerência Óptica/métodos , Malha Trabecular/diagnóstico por imagemRESUMO
PURPOSE: The management of glaucoma following cataract surgery (GFCS) in children is challenging. This study looks at the results of two-site trabeculotomy in paediatric aphakic/pseudophakic glaucoma, 1-year post operatively. METHODS: This prospective, institutional study was performed on 33 eyes with GFCS in patients aged ≤14 years. Patients underwent two-site trabeculotomy using the rigid-probe trabeculotome, through a superonasal and an inferotemporal scleral flap. Intraocular pressure (IOP), medications, complications and success rates at 1 year were reported. Success was defined as IOP < 23 mmHg or 30% IOP reduction, on the same or fewer number of medications at 1 year, without the need for another glaucoma procedure. RESULTS: Trabeculotomy was performed on average 3.5 years after the cataract surgery. Patients were aged 5.73 ± 1.79 years. We excluded four eyes in which >180° incision could not be achieved. A 360° incision was achieved in 14 eyes (48%). There was a significant reduction in IOP and medications at 1, 3, 6 and 12 months (p < 0.001). At 1 year, mean IOP reduction was 48.2 ± 31.5%. Success was achieved in 26 eyes (89.6%), of which 15 were controlled without medications. There was no significant difference in IOP, medications or success between aphakic and pseudophakic eyes nor between eyes that had 360° trabeculotomy and eyes that had a 180-270° incision. Three eyes (10.3%) required another glaucoma procedure. One eye required core vitrectomy for vitreous haemorrhage. CONCLUSIONS: Two-site trabeculotomy can be used as an effective and safe first-line procedure in paediatric GFCS eyes that do not have extensive peripheral anterior synechiae.
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Catarata , Glaucoma , Trabeculectomia , Criança , Seguimentos , Glaucoma/etiologia , Glaucoma/cirurgia , Humanos , Pressão Intraocular , Estudos Prospectivos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
PURPOSE: To study the prognostic factors influencing intraocular pressure (IOP) reduction and success rates of paediatric goniotomy and trabeculotomy. PATIENTS: Data from patients aged ≤12 years who underwent goniotomy or trabeculotomy for primary congenital glaucoma from 2013 to 2016 were reviewed. The analysis included 452 eyes of which 120 eyes of patients with a median age (IQR) of 6 months (4.1-11 months) underwent goniotomy, and 332 eyes of patients with a median age of 5.2 months (2.3-9.3 months) underwent trabeculotomy. METHODS: Multivariate linear regression analysis was used to predict the correlation of preoperative and operative risk factors to the per cent IOP reduction, while multivariate logistic regression was done to determine independent predictors of failure. Failure was defined as a final IOP >18 mm Hg while on medications or the need for another glaucoma procedure. RESULTS: In the goniotomy group, the median IOP reduction was 19.4% and was positively correlated to a high initial IOP (p≤0.001) while in the trabeculotomy group, it was 36.8% and mostly influenced by preoperative IOP (p≤0.001), corneal clarity (p=0.04), gender (p=0.04) and consanguinity (p=0.03). The failure rate in the goniotomy group was 56% and was influenced by the preoperative cup-to-disc ratio, while in the trabeculotomy group it was 30% and strongly correlated to positive consanguinity (p≤0.001), higher preoperative IOP (p=0.003), female gender (p=0.01) and younger age at surgery (p=0.03). CONCLUSION: Several factors can predict the outcome of angle surgery and can help in deciding the appropriate surgical intervention in paediatric glaucoma. Trabeculotomy seems to be superior to goniotomy in primary congenital glaucoma.
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Glaucoma/cirurgia , Trabeculectomia/métodos , Acuidade Visual , Criança , Pré-Escolar , Feminino , Seguimentos , Glaucoma/congênito , Glaucoma/fisiopatologia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
INTRODUCTION: Kahook dual blade (KDB) removes a strip of the trabecular meshwork from the angle, which may make it superior to simple goniotomy in treating the angle anomaly in primary congenital glaucoma (PCG). This prospective study compares KDB ab-interno trabeculectomy to conventional goniotomy in PCG. METHODS: Forty-two eyes of 29 patients with PCG underwent ab-interno trabeculectomy using a KDB or conventional goniotomy using a 25-G irrigating needle, targeting 100 to 120 degrees of the nasal iridocorneal angle. Patients were seen at 1, 3, 6, and 12 months postoperatively. Success was defined as intraocular pressure (IOP) ≤21 mm Hg at 1-year follow-up visit, with no evidence of glaucoma progression. RESULTS: The KDB group included 21 eyes of patients with a median age of 6 months (interquartile range: 4 to 8.5 mo) and the goniotomy group included 21 eyes of patients with a median age of 5 months (interquartile range: 3 to 9.5 mo). There was a significant reduction in IOP in both groups at all follow-up visits. The reduction in the number of glaucoma medications was significant at 1, 3, and 6 months postoperatively in the KDB group, and at 1 month in the goniotomy group. There was no significant difference in IOP or glaucoma medications between both groups at any follow-up visit. Success was achieved in 12 eyes (57.1%) in each group, with no eyes developing any serious complications. CONCLUSION: One-year results show that KDB ab-interno trabeculectomy is at least as effective as goniotomy in the treatment of PCG. Eyes with bilateral glaucoma had a tendency to fail both procedures.
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Glaucoma , Facoemulsificação , Trabeculectomia , Glaucoma/cirurgia , Humanos , Lactente , Pressão Intraocular , Estudos Prospectivos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
PRECIS: Anterior chamber angle (ACA) narrowing continues to occur for at least 2 years after congenital cataract surgery. Risk factors for intraocular pressure (IOP) elevation after congenital cataract surgery were higher central corneal thickness (CCT) and surgery at <2 months. PURPOSE: The purpose of this study was to study the changes in IOP and in the ACA during the first 2 years after pediatric cataract surgery and to determine risk factors for such changes. PATIENTS AND METHODS: A retrospective observational study was done on infants who underwent pediatric cataract surgery in Cairo University Hospitals and completed a 1-year follow-up. Demographic and clinical characteristics were recorded including age at surgery, sex, corneal diameter, CCT pupil diameter, IOP, gonioscopic findings, presence of persistent hyperplastic primary vitreous, surgical approach, primary intraocular lens implantation, and perioperative subconjunctival steroid injection. Changes in IOP and in the ACA were recorded, and the risk factors for such changes were analyzed. RESULTS: Postoperative IOP elevation >18 mm Hg occurred in 23 eyes of 206 eyes (11%), who completed Year 1 and in 9 (13%) of 86 eyes who completed Year 2. Risk factors for IOP elevation were larger preoperative CCT (P=0.01) in Year 1, and younger age at surgery (P=0.01), and aphakia (P=0.05) in Year 2. In multivariate analysis only younger age at surgery was a risk factor for IOP elevation in Year 2. ACA narrowing occurred in 49% and in 21% of the examined eyes in Years 1 and 2, respectively. Aphakia was not a significant risk factor of angle narrowing in Years 1 and 2 (P=0.17 and 0.42, respectively). CONCLUSIONS: Higher preoperative CCT was a risk factor for early-onset IOP elevation. Surgery at >2 months was associated with lower susceptibility to late-onset IOP elevation.
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Extração de Catarata , Catarata , Câmara Anterior/diagnóstico por imagem , Criança , Humanos , Lactente , Pressão Intraocular , Tonometria OcularRESUMO
PURPOSE: To compare the postoperative alignment after medial rectus muscle posterior scleral fixation versus augmented recession in children with partially accommodative esotropia (PAET) without convergence excess. METHODS: In this prospective study, 60 children with PAET without convergence excess were randomly assigned to either augmented medial rectus recession, based on the average of distance angle with correction and near angle without correction, or medial rectus recession, based on distance angle with correction, combined with posterior scleral fixation. The ductions, versions, angles of deviation, and difference between angles were analyzed before and 6 months after surgery. Complete success was defined as orthotropia to within 8Δ of esophoria/tropia for both distance and near, with spectacle correction, at 6 months. Patients who developed any exophoria/tropia with their original spectacles and needed reduction of their hyperopic correction to achieve successful outcome were defined as qualified successes. RESULTS: Of the 60 children, 25 in the augmented group and 28 in the posterior fixation group completed follow-up. The mean age at surgery was 4.90 ± 2.34 years. The complete success rate was 48% and 64% in the augmented and posterior fixation groups, respectively (P = 0.15); the qualified success rate was 80% and 92.9%, respectively (P = 0.17). Success rate was significantly higher (P = 0.04) in the posterior fixation group (56%) than in the augmented group (18%) when the preoperative angle disparity was ≥20Δ. CONCLUSIONS: Medial rectus posterior scleral fixation can improve the success rate in PAET with large angle disparity.
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Esotropia , Criança , Esotropia/cirurgia , Humanos , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento , Visão BinocularRESUMO
Purpose: Although trabeculectomy, and to a less extent glaucoma drainage devices are currently the gold standard in glaucoma surgery, there is a rising interest in addressing the more physiological pathway of aqueous outflow through surgeries that target Schlemm's canal (SC). These surgeries have the advantage of a lower risk of hypotony and bleb-related complications commonly associated with conventional glaucoma surgery.In this article we review new developments and the different techniques of circumferential angle surgery in adult and pediatric glaucoma, as well as procedures which target the canal circumferentially without incising it, such as canaloplasty and Visco360.Methods: A comprehensive literature search of various electronic databases was performed.Results: Angle surgery, namely goniotomy and trabeculotomy, have been well established as standard procedures in pediatric glaucoma, yet their results in the management of adult glaucoma have not been as promising. In recent years, ab-interno trabeculectomy using Trabectome and Kahook dual blade have yielded variable results in adult glaucoma. As growing evidence suggests that bigger extent incisions into SC result in increased lowering of intraocular pressure than conventional 120 to 180-degree incisions, several procedures have been developed to create a circumferential incision into SC. Circumferential SC incision using sutures, microcatheters, TRAB360 or the rigid probe trabeculotome, through an ab-interno or ab-externo approach, have yielded promising results in both adult and pediatric glaucoma by reducing the resistance to aqueous outflow through the inner wall of SC over 360 degrees of the angle.Conclusions: Various techniques of circumferential Schlemm's canal surgery is effective in management of different adult and pediatric glaucomas. Further long-term comparative studies would be useful in evaluating safety and efficacy of these procedures.
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Cirurgia Filtrante/métodos , Implantes para Drenagem de Glaucoma , Glaucoma/cirurgia , Pressão Intraocular/fisiologia , Microcirurgia/métodos , Esclera/cirurgia , Suturas , Adulto , Criança , Glaucoma/fisiopatologia , HumanosRESUMO
PURPOSE: The purpose of this study was to compare the outcomes of microcatheter-assisted trabeculotomy to circumferential trabeculotomy using the rigid probe trabeculotome in primary congenital glaucoma. METHODS: This retrospective study was performed in an institutional setting. The medical records of primary congenital glaucoma patients who underwent circumferential trabeculotomy (≥270 degrees incised) using Glaucolight-illuminated microcatheter or a rigid probe trabeculotome were reviewed. The primary outcomes were the percent reduction of intraocular pressure (IOP) and success rates. Complete success was defined as achieving an IOP<18 mm Hg without medications. Secondary outcomes were the postoperative IOP and glaucoma medications. RESULTS: The study included 92 eyes of 92 patients. Of these, 33 eyes of 33 patients aged 6.4±8.7 months underwent microcatheter-assisted trabeculotomy creating a 336±34-degree incision, with 19 eyes (58%) having a complete 360-degree incision. The other 59 eyes of 59 patients aged 8.2±13.1 months underwent 2-site trabeculotomy, using a rigid probe trabeculotome through a combined superonasal and inferotemporal approach, creating a 338±29-degree incision, with 33 eyes (56%) having a complete incision. After a follow-up of 21.2±8.9 months, there was a 42%±25% IOP reduction and a 73% rate of complete success in the microcatheter group, compared with 40%±22% IOP reduction and an 80% success rate in the rigid probe group (P=0.7 and 0.3, respectively). There was no significant difference in survival time in both groups (P=0.6). CONCLUSION: Circumferential trabeculotomy using either the illuminated microcatheter or rigid probe trabeculotome yielded comparable results; however, the added cost of the microcatheter should be considered.
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Catéteres , Glaucoma/congênito , Glaucoma/cirurgia , Hidroftalmia/cirurgia , Trabeculectomia/instrumentação , Trabeculectomia/métodos , Catéteres/efeitos adversos , Catéteres/estatística & dados numéricos , Criança , Pré-Escolar , Feminino , Seguimentos , Glaucoma/epidemiologia , Humanos , Hidroftalmia/epidemiologia , Lactente , Recém-Nascido , Pressão Intraocular , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Período Pós-Operatório , Procedimentos de Cirurgia Plástica/efeitos adversos , Procedimentos de Cirurgia Plástica/instrumentação , Procedimentos de Cirurgia Plástica/métodos , Procedimentos de Cirurgia Plástica/estatística & dados numéricos , Estudos Retrospectivos , Tonometria Ocular , Trabeculectomia/efeitos adversos , Resultado do TratamentoRESUMO
PURPOSE: To study the ocular manifestations of juvenile systemic lupus erythematosus (JSLE), including the ocular side-effects of the systemic medications used. METHODS: A descriptive cross-sectional study on 40 children diagnosed with JSLE was conducted. Ophthalmological and laboratory investigations as well as a calculation of the Systemic Lupus Disease Activity Index 2000 (SLEDAI-2K) were performed. RESULTS: Forty consecutive children, 32 females and 8 males, with JSLE were examined. Their mean age was 13±2.8 years and the mean SLEDAI-2K was 4.3±3.1. An abnormal Schirmer test was found in 16 patients (40%), retinal vascular changes were found in seven patients (17.5%), and one patient (2.5%) had faint posterior subcapsular cataract. CONCLUSION: Serious sight-threatening complications were not detected in our study; dry eye was the most common ocular finding, and the detected retinopathy was related to systemic hypertension and could not be correlated to either disease activity or duration.
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Técnicas de Diagnóstico Oftalmológico , Oftalmopatias/diagnóstico , Lúpus Eritematoso Sistêmico/complicações , Acuidade Visual , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Oftalmopatias/etiologia , Oftalmopatias/fisiopatologia , Feminino , Humanos , Masculino , Estudos Prospectivos , Índice de Gravidade de DoençaRESUMO
PURPOSE: To compare the outcomes of microcatheter-assisted circumferential trabeculotomy to standard rigid probe trabeculotomy in childhood glaucomas. METHODS: Eyes of children requiring trabeculotomy for primary congenital or secondary paediatric glaucoma were randomized to undergo either trabeculotomy using the Glaucolight illuminated microcatheter, or a rigid probe trabeculotomy. Complete success was defined as an intraocular pressure (IOP) of <18 mmHg without medications. RESULTS: A total of 62 eyes of 62 patients were included. Of these 30 eyes of 30 patients aged 5.6 ± 4.8 months underwent microcatheter-assisted trabeculotomy, with 15 eyes (50%) having a complete 360° cut, while 15 eyes (50%) had an incomplete cut ranging from 250 to 350 degrees. The rigid probe trabeculotomy group included 32 eyes of 32 patients aged 4.4 ± 3.8 months. At the end of the 2-year follow-up period, the complete success and the failure rates were 67% and 15%, respectively, in the microcatheter-assisted group versus 47% and 50% in the rigid probe trabeculotomy group (p = 0.006). There was a tendency towards lower IOP in the microcatheter group at 1, 3, 6, 12 and 24 months postoperatively, with the difference in IOP reaching statistical significance at 6 months (p = 0.004). The mean survival time was significantly longer for the microcatheter group (p = 0.01). CONCLUSION: At 2 years postoperatively, microcatheter-assisted trabeculotomy still yielded superior results in terms of IOP control and success rates in children with primary congenital glaucoma. The need for reoperation for glaucoma was significantly lower in the microcatheter group.
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Catéteres , Glaucoma/cirurgia , Pressão Intraocular , Trabeculectomia/instrumentação , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Glaucoma/congênito , Glaucoma/fisiopatologia , Humanos , Lactente , Masculino , Miniaturização/instrumentação , Estudos Prospectivos , Fatores de Tempo , Tonometria Ocular , Resultado do Tratamento , Acuidade Visual , Adulto JovemRESUMO
AIM: To study the incidence and risk factors of glaucoma occurring within 1 year following pediatric cataract surgery in Egyptian children. MATERIALS AND METHODS: This is a prospective nonrandomized study conducted at Aburich Children's Hospital, over a period of 1 year on a cohort of Egyptian patients with congenital and infantile cataract. One hundred and fifty eyes of 88 patients were enrolled in this study. All the patients underwent anterior approach removal of lens matter, whereas primary intraocular lens (IOL) implantation was carried at the age of 1 and 2 years for unilateral and bilateral cases respectively. Intraocular pressure (IOP) was measured at 1 week, 1 month, 3 months, 6 months, 9 months, and 1 year. For those who developed glaucoma, time of diagnosis and associated risk factors were reported. RESULTS: The incidence of glaucoma was 11.33% (17 of 150 eyes), while incidence of glaucoma suspect was 0.67% (1 of 150 eyes) in the first year following cataract surgery. The majority of the cases (66.7%) were discovered in the first 3 months postcataract surgery. Age at time of cataract surgery, the state of aphakia/pseudophakia, persistent fetal vasculature (PFV), and microphthalmia were not found to be significant predictors of early-onset glaucoma in our study. CONCLUSION: Aphakic glaucoma continues to be a devastating condition with high incidence during first year following cataract surgery. CLINICAL SIGNIFICANCE: Regular follow-up should start as early as possible following cataract surgery. Further prospective studies with larger study population are required.How to cite this article: Gawdat GI, Youssef MM, Bahgat NM, Elfayoumi DM, Eddin MAS. Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study. J Curr Glaucoma Pract 2017;11(3):80-85.
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PURPOSE: To evaluate the visual outcomes and complications after Artisan iris-claw lens implantation in aphakic children with insufficient capsular support. METHODS: In this prospective, interventional noncontrolled study, aphakic eyes of consecutive patients >2 years of age with insufficient capsular support who underwent Artisan intraocular lens (IOL) implantation between June 2011 and December 2012 were followed for 1 year. Patients with anterior chamber depth <3 mm, central endothelial cell density (CECD) <2500 cells/mm(²), uncontrolled glaucoma, or uveitis were excluded. Best-corrected visual acuity, intraocular pressure (IOP), and CECD were measured at 1, 6, and 12 months postoperatively. RESULTS: A total of 25 aphakic eyes of 18 patients (mean age, 7.86 ± 3.08 years) with insufficient capsular support for a standard posterior chamber IOL were included, 18 eyes with subluxated lens and 7 following trauma. The mean preoperative logMAR best-corrected visual acuity for traumatic aphakic patients was 0.95 ± 0.36; for patients with subluxation, 0.7 ± 0.26. Values improved at 1 year to 0.38 ± 0.15 (P < 0.002) and 0.3 ± 0.2 (P < 0.0001), respectively. One year after surgery the CECD (2892.64 ± 441.79 cells/mm(²)) was significantly reduced from the preoperative and 1 month postoperative values (3573.36 ± 468.9 cells/mm(2), 3081 ± 495 cells/mm(²); P < 0.0001, P < 0.02 resp.). Two cases (8%) developed traumatic dislocation. Pupillary block occurred in 1 case (4%). CONCLUSIONS: Artisan IOL implantation for pediatric aphakia achieved a good visual outcome.
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Afacia Pós-Catarata/cirurgia , Cápsula do Cristalino/patologia , Implante de Lente Intraocular/métodos , Lentes Intraoculares , Acuidade Visual/fisiologia , Adolescente , Afacia Pós-Catarata/etiologia , Afacia Pós-Catarata/fisiopatologia , Criança , Pré-Escolar , Perda de Células Endoteliais da Córnea/diagnóstico , Traumatismos Oculares/etiologia , Traumatismos Oculares/cirurgia , Feminino , Seguimentos , Humanos , Pressão Intraocular/fisiologia , Subluxação do Cristalino/etiologia , Subluxação do Cristalino/cirurgia , Masculino , Estudos Prospectivos , Desenho de PróteseRESUMO
PURPOSE: To compare suture spacers with silicone band expanders in superior oblique-weakening surgery. METHODS: We retrospectively reviewed the charts of consecutive patients who had superior oblique weakening with either suture spacers or silicone expanders and had been followed for a minimum follow-up of 6 months. The ductions, versions, and the degree of fundus torsion were analyzed in all patients before and after surgery. In addition, surgery time and postoperative complications were analyzed. RESULTS: The record review identified 25 patients, of whom 13 had been treated with superior oblique muscle suture spacers and 12 with superior oblique muscle silicone expanders. Both groups showed improved ductions and versions. In patients with Brown syndrome, complete normalization of superior oblique muscle overaction occurred in 67% of patients who had suture spacers and 67% of patients who had silicone expanders. In patients with A-pattern strabismus, normal function of the superior oblique muscle occurred in 75% of patients with suture spacers and 67% of patients with silicone expanders. Surgery time was significantly less in patients who had suture spacers. Severe orbital inflammation occurred in 1 patient around the silicone band and was managed by removal of the implant. CONCLUSIONS: Both suture spacers and silicone expanders improved the comitance of versions and normalized superior oblique muscle function. Longer surgery time and more severe inflammatory reaction are possible drawbacks of silicone expanders.
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Transtornos da Motilidade Ocular/cirurgia , Músculos Oculomotores/cirurgia , Elastômeros de Silicone , Técnicas de Sutura , Dispositivos para Expansão de Tecidos , Adolescente , Adulto , Criança , Pré-Escolar , Movimentos Oculares/fisiologia , Feminino , Seguimentos , Humanos , Masculino , Transtornos da Motilidade Ocular/fisiopatologia , Complicações Pós-Operatórias , Estrabismo/fisiopatologia , Estrabismo/cirurgia , Fatores de Tempo , Adulto JovemRESUMO
Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consanguineous marriages; yet, only a few studies have investigated the clinical and molecular characteristics of NPHP and related ciliopathies in the Egyptian population. We studied 20 children, from 17 independent families, fulfilling the clinical and the ultrasonographic criteria of NPHP. Analysis for a homozygous deletion of the NPHP1 gene was performed by polymerase chain reaction on the genomic DNA of all patients. Patients were best categorized as 75% juvenile NPHP, 5% infantile NPHP, and 20% Joubert syndrome-related disorders (JSRD). The mean age at diagnosis was 87.5 + 45.4 months, which was significantly late as compared with the age at onset of symptoms, 43.8 ± 29.7 months (P <0.01). Homozygous NPHP1 deletions were detected in six patients from five of 17 (29.4%) studied families. Our study demonstrates the clinical phenotype of NPHP and related disorders in Egyptian children. Also, we report that homozygous NPHP1 deletions account for 29.4% of NPHP in the studied families in this cohort, thereby confirming the diagnosis of type-1 NPHP. Moreover, our findings confirm that NPHP1 deletions can indeed be responsible for JSRD.