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Congenital Glaucoma

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1. Congenital Refractory Glaucoma: a New Ophthalmic Association of Kabuki Syndrome and its Management with Glaucoma Drainage Devices. (PubMed)

Congenital Refractory Glaucoma: a New Ophthalmic Association of Kabuki Syndrome and its Management with Glaucoma Drainage Devices. Kabuki syndrome (KS) is a rare congenital and polymalformative condition, traditionally associated with mental retardation, unusual facial features and skeletal abnormalities. We hereby describe a case of bilateral congenital glaucoma associated with MLL2-mutation Kabuki Syndrome. To the best of our knowledge, this is the first association of KS with congenital (...) glaucoma.The patient was a 3 year-old male of North-African ethnicity diagnosed with KS and bilateral congenital glaucoma at the age of 3 months and the first child of a non-consanguineous healthy couple, with no known genetic conditions within the family. The patient was referred to our tertiary glaucoma centre with uncontrollable intraocular pressures (IOP) between 50-60▒mmHg in both eyes. Past ophthalmic history included bilateral trabeculectomies and right retinal detachment with phthisis bulbi. We

2019 Journal of Glaucoma

2. Angle closure glaucoma in congenital ectropion uvea (PubMed)

Angle closure glaucoma in congenital ectropion uvea Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea.Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy (...) in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy).Congenital ectropion

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2018 American journal of ophthalmology case reports

3. Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma. (PubMed)

Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma. Congenital glaucoma (CG) is a severe and inherited childhood optical neuropathy that leads to irreversible visual loss and blindness in children. CG pathogenesis remains largely unexplained in most patients. Herein we have extended our previous studies to evaluate the role of FOXC2 and PITX2 variants in CG. Variants of the proximal promoter and transcribed sequence (...) of these two genes were analyzed by Sanger sequencing in a cohort of 133 CG families. To investigate possible oligogenic inheritance involving FOXC2 or PITX2 and CYP1B1, we also analyzed FOXC2 and PITX2 variants in a group of 25 CG cases who were known to carry CYP1B1 glaucoma-associated genotypes. The functional effect of three identified variants was assessed by transactivation luciferase reporter assays, protein stability and subcellular localization analyses. We found eight probands (6.0%) who carried

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2019 PLoS ONE

4. The role of primary intraocular lens implantation in the risk of secondary glaucoma following congenital cataract surgery: A systematic review and meta-analysis. (PubMed)

The role of primary intraocular lens implantation in the risk of secondary glaucoma following congenital cataract surgery: A systematic review and meta-analysis. This meta-analysis aims to evaluate the incidence of secondary glaucoma in patients under the age of 2 years who underwent congenital cataract surgery with or without primary intraocular lens (IOL) implantation.An electronic literature search was performed in Medline, EMBASE, and Web of Science databases to retrieve studies between (...) January 2011 and November 2018. Patients with congenital cataract who did primary IOL implantation, aphakia, or secondary IOL implantation followed by receiving extraction surgery were included in this study. Relevant studies meeting defined eligibility criteria were selected and reviewed systematically by meta-analysis. Long-term incidences of secondary glaucoma, which developed at least one year after cataract surgery, were considered and discussed as clinical outcomes in each cohort. The pooled

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2019 PLoS ONE

5. Surgical interventions for primary congenital glaucoma. (PubMed)

Surgical interventions for primary congenital glaucoma. Primary congenital glaucoma (PCG) manifests within the first few years of a child's life and is not associated with any other systemic or ocular abnormalities. PCG results in considerable morbidity even in developed countries. Several surgical techniques for treating this condition, and lowering the intraocular pressure (IOP) associated with it, have been described.To compare the effectiveness and safety of different surgical techniques

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2015 Cochrane

6. Proptosis masquerading as buphthalmos following glaucoma drainage device surgery in a child with congenital glaucoma. (PubMed)

Proptosis masquerading as buphthalmos following glaucoma drainage device surgery in a child with congenital glaucoma. Glaucoma drainage devices are commonly used in the surgical treatment of children with glaucoma. We report a case of unusually large reservoir formation causing proptosis, exposure keratopathy, and motility deficits. This case highlights the importance of B-scan and axial length measurements in differentiating proptosis from buphthalmos in children with glaucoma. Reducing

2018 JAAPOS - Journal of the American Association for Pediatric Ophthalmology and Strabismus

7. Microcatheter-assisted Trabeculotomy for Primary Congenital Glaucoma after Failed Glaucoma Surgeries. (PubMed)

Microcatheter-assisted Trabeculotomy for Primary Congenital Glaucoma after Failed Glaucoma Surgeries. To evaluate the effectiveness of microcatheter-assisted trabeculotomy (MAT) to treat primary congenital glaucoma after failed previous glaucoma surgeries.Retrospective, noncomparative, interventional case series conducted at Beijing Tongren Eye Center, China. Outcome measures were compared between 3 groups: successful and complete (≥330 degrees) MAT; successful and partial (<330 degrees) MAT (...) and complete success were 37.0% and 29.2% at 3-year follow-up.Both complete and partial MAT achieved significant pressure reduction in cases of primary congenital glaucoma with previous failed glaucoma surgeries in intermediate term.

2018 Journal of Glaucoma

8. Primary Congenital Glaucoma versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes. (PubMed)

Primary Congenital Glaucoma versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes. To report and compare visual and glaucoma outcomes in primary congenital glaucoma (PCG) vs glaucoma following congenital cataract surgery (GFCS).Retrospective, observational, comparative case series.Setting: Emory Eye Center, Atlanta, Georgia.Pediatric glaucoma patients (age 0-18 years) treated at Emory by 1 clinician with ≥2-year follow-up. Glaucoma (...) was defined according to the 9th Consensus Report of the World Glaucoma Association.Snellen-equivalent logMAR visual acuity (VA) and glaucoma control (IOP ≤21, no devastating complications, no recommendation for further glaucoma surgery). Asymptotic Wilcoxon-Mann-Whitney rank sum tests were employed to compare glaucoma subgroups.Included were 72 PCG and 56 GFCS cases, with mean follow-up time of 7.4 ± 4.1 and 8.0 ± 3.8 years, respectively. At last follow-up, PCG showed better median VA than GFCS in worse

2016 American Journal of Ophthalmology

9. Factors influencing the outcome of goniotomy and trabeculotomy in primary congenital glaucoma. (PubMed)

Factors influencing the outcome of goniotomy and trabeculotomy in primary congenital glaucoma. To study the prognostic factors influencing intraocular pressure (IOP) reduction and success rates of paediatric goniotomy and trabeculotomy.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 (...) gender (p=0.01) and younger age at surgery (p=0.03).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.© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

2019 British Journal of Ophthalmology

10. Secondary Congenital Glaucoma Associated With Retro-orbital Infantile Hemangioma: A Masquerade Syndrome. (PubMed)

Secondary Congenital Glaucoma Associated With Retro-orbital Infantile Hemangioma: A Masquerade Syndrome. The main purpose of this study was to describe a unique case of retro-orbital infantile hemangioma (IH) simulating a congenital glaucoma requiring prompt management with systemic propranolol.This was a case report.A 2-month-old white female was referred to our department of ophthalmology for progressive, unilateral protrusion of the left eye associated with epiphora. Clinical examination (...) was suggestive of congenital glaucoma, as evidenced by high intraocular pressure, optic disc cup, increased corneal diameter, and axial length. The left eye proptosis was measured at 4 mm with the Hertel exophthalmometer. Cycloplegic refraction discloses high degree of astigmatism in the left eye. A cerebral and orbital magnetic resonance imaging revealed an intraconal vascular mass evocative of orbital IH.Oral propranolol was initiated and resulted in a rapid radiologic reduction of the IH. Concomitantly

2019 Journal of Glaucoma

11. Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. (PubMed)

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenfeld-Rieger syndrome, makes it more difficult to diagnose patients with milder phenotypes. These cases (...) are occasionally classified and managed as primary congenital glaucoma.To investigate the prevalence of FOXC1 variants in participants with a suspected diagnosis of primary congenital glaucoma.Australian and Italian cohorts were recruited from January 1, 2007, through March 1, 2016. Australian individuals were recruited through the Australian and New Zealand Registry of Advanced Glaucoma and Italian individuals through the Genetic and Ophthalmology Unit of l'Azienda Socio-Sanitaria Territoriale Grande Ospedale

2019 JAMA ophthalmology

12. Caregiver Burden in Primary Congenital Glaucoma. (PubMed)

Caregiver Burden in Primary Congenital Glaucoma. To evaluate the demographic, clinical, and socioeconomic factors associated with quality of life (QOL) in caregivers of children with primary congenital glaucoma (PCG) in south India.Cross-sectional survey.Caregivers of children under age 18 with diagnosed PCG were prospectively enrolled at Aravind Eye Hospital in Madurai and Coimbatore, India. Participants completed 2 questionnaires, the PHQ-9 (9-item Patient Health Questionnaire (...) ) and the CarCGQoL (Caregivers Congenital Glaucoma Quality of Life Questionnaire). Clinical, demographic, and socioeconomic data were obtained for each child-caregiver dyad. Rasch-calibrated scores were calculated for patient-reported outcome measures. Spearman correlation and linear regression were used to analyze data to determine associations with caregiver QOL.There were 70 caregivers (mean age 32.1, 77.1% female) of 70 children with PCG (mean age 7.7, 37.1% female) included in the study. In univariate

2019 American Journal of Ophthalmology

13. Long-term surgical outcomes of ab externo trabeculotomy in the management of primary congenital glaucoma. (PubMed)

Long-term surgical outcomes of ab externo trabeculotomy in the management of primary congenital glaucoma. To analyze the long-term results of ab externo trabeculotomy with a Harms trabeculotome at a single, tertiary care pediatric hospital.The medical records of pediatric patients operated on between September 2006 and June 2018 were reviewed retrospectively. Kaplan-Meier analysis was performed, with success defined as postoperative intraocular pressure (IOP) of ≤21 mm Hg, >20% reduction from (...) preoperative IOP, and no need for further glaucoma surgery. Risk factors for failure were identified using Cox proportional hazards ratio.A total of 63 eyes of 40 patients were included. The cumulative probability of success rate was 83% at 3 months, 76% at 6, 73% at 12, 72% at 18, and 65% at final visit. Presentation within 3 months of life was associated with a less favorable outcome. Thirty-five eyes (56%) underwent repeat trabeculotomy to treat a different area of the trabecular meshwork because

2019 JAAPOS - Journal of the American Association for Pediatric Ophthalmology and Strabismus

14. Neglected Congenital Glaucoma with Lens Coloboma. (PubMed)

Neglected Congenital Glaucoma with Lens Coloboma. To report a case of lens coloboma in a case of neglected primary congenital glaucoma.A 5-year-old boy was brought by the parents with complaints of diminution of vision in both eyes noticed for 8 months. There was a history of enlargement of eyes since 1 year of age.Clinical examination revealed bilateral large eyes with limbal stretching and Haab's striae and lens coloboma in the right eye. Dilated examination revealed scalloped border (...) of the crystalline lens superotemporally with broken zonules and lens coloboma in inferotemporal quadrant with absent zonules. There was advanced optic nerve head cupping in both eyes. This lens coloboma is likely an acquired condition due to extensive stretching of the lens and zonules secondary to globe enlargement in neglected buphthalmos.A neglected case of congenital glaucoma can lead to lens subluxation along with lens coloboma.

2019 Journal of Glaucoma

15. Retinal nerve fiber layer thickness in children with primary congenital glaucoma measured by spectral domain optical coherence tomography. (PubMed)

Retinal nerve fiber layer thickness in children with primary congenital glaucoma measured by spectral domain optical coherence tomography. To evaluate retinal nerve fiber layer (RNFL) thickness using spectral domain optical coherence tomography (SD-OCT) in a population of children diagnosed with primary congenital glaucoma (PCG).In this cross-sectional study, 59 eyes of 59 children diagnosed with PCG and 87 eyes of 87 healthy children were evaluated by SD-OCT to measure the RNFL. The global

2019 JAAPOS - Journal of the American Association for Pediatric Ophthalmology and Strabismus

16. Combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for refractory primary congenital glaucoma in Egyptian patients: a long-term follow-up (PubMed)

Combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for refractory primary congenital glaucoma in Egyptian patients: a long-term follow-up Primary congenital glaucoma (PCG) is the most common type of glaucoma in pediatric patients. The aim of this study was to compare the effectiveness of combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for cases of PCG refractory to traditional incisional angle surgery (goniotomy and trabeculotomy) in the Egyptian (...) population.The study was conducted in the Glaucoma Clinic of the Research Institute of Ophthalmology (Egypt). The study included 66 eyes of 66 patients (in two groups) with advanced PCG who had previous failed goniotomy, trabeculotomy, or both. Group 1 included 33 patients who underwent trabeculotomy-trabeculectomy procedures; group 2 included 33 patients who underwent FP 8 Ahmed valve implantation. The main outcome measures were intraocular pressure (IOP) reduction, corneal diameter, and axial length

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2016 Electronic physician

17. CYP1B1 Gene and Phenotypic Correlation in Patients from Northeastern Brazil with Primary Congenital Glaucoma. (PubMed)

CYP1B1 Gene and Phenotypic Correlation in Patients from Northeastern Brazil with Primary Congenital Glaucoma. To identify variants in the CYP1B1 gene in northeastern Brazilian patients with primary congenital glaucoma (PCG) and possible genotype-phenotype correlations.This is a cross-sectional observational study of 17 nonrelated patients with PCG, performed at the Altino Ventura Foundation, Recife, Brazil, between December 2017 and February 2018. All patients underwent an examination

2018 Journal of Glaucoma

18. Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. (PubMed)

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle (...) childhood-onset neuromyopathy with congenital cataracts and glaucoma, expands the clinical spectrum of POLG-related disorders. It also confirms the association between cataracts and neuropathy with variants in POLG. Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy.

2018 European Journal of Human Genetics

19. Catheter-assisted 360-Degree Trabeculotomy for Congenital Glaucoma. (PubMed)

Catheter-assisted 360-Degree Trabeculotomy for Congenital Glaucoma. To determine feasibility, efficacy, and safety of ab externo 360-degree trabeculotomy with illuminated microcatheter for congenital glaucoma.The postoperative results of 36 eyes in 23 consecutive patients who underwent 360-degree trabeculotomy for primary congenital glaucoma (PCG) or secondary congenital glaucoma using an illuminated microcatheter were retrospectively analyzed. Success criteria were defined as intraocular (...) pressure (IOP) ≤18 mm Hg without (complete success) and with medication (qualified success).In all previously nonoperated eyes with PCG (group 1), the Schlemm's canal was identified and circumferentially cannulated for 360-degree trabeculotomy. In group 2 comprising of operated eyes with PCG and eyes with secondary congenital glaucoma, the performance of 360-degree trabeculotomy failed in 4 eyes because of the Schlemm's canal occlusion or high tissue resistance of the trabecular meshwork. Mean

2018 Journal of Glaucoma

20. Juvenile Open Angle Glaucoma with Non Bullous Congenital Ichthyosiform Erythroderma. (PubMed)

Juvenile Open Angle Glaucoma with Non Bullous Congenital Ichthyosiform Erythroderma. Glaucoma in patients with nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare entity that has not been described in a histologically confirmed case. We present a unique case of coexisting glaucoma, ichthyosis, and dwarfism that has not been previously described.We present a case of NBCIE with glaucoma and dwarfism that presented to our outpatient department. The patient was referred for watering (...) and photophobia that were due to an epithelial defect that was subsequently managed conservatively. Investigations revealed the existence of a constellation of findings that are presented here.NBCIE, glaucoma, and dwarfism represent a spectrum of diseases that seem to have a syndromic association. More gene linkage-based analysis are, however, needed to further confirm our observations.NBCIE, glaucoma, and dwarfism can often occur together and need to be assessed and managed individually. Early diagnosis

2018 Journal of Glaucoma

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