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1.
Int Ophthalmol ; 44(1): 231, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38822988

RESUMEN

PURPOSE: To analyze the intraoperative challenges of cataract surgery in children, following glaucoma filtering surgery. METHODS: This was a retrospective study to analyze intra-op challenges and outcomes of pediatric cataract surgery in post-glaucoma filtration surgery eyes, between January 2007 and December 2019. RESULTS: We included 20 eyes of 16 children. The most common glaucoma surgery performed was trabeculectomy and trabeculotomy (14 eyes). The median age at the time of cataract surgery was 74.5 months. The most common cataract surgery performed was lens aspiration with posterior chamber intraocular lens implantation (LA + PCIOL) (9/20). The most common intraoperative challenge faced was difficulty in capsulorrhexis (ten eyes), followed by extension of primary posterior capsulotomy (six eyes). At the final follow up eight eyes had improvement in visual acuity, five eyes had stable visual acuity and five eyes had a drop in visual acuity. In 12/20 eyes IOL was implanted, nine eyes in-the-bag and three eyes had in ciliary sulcus. None of the IOLs in the bag had decentration of IOL. The median postoperative IOP (p = 0.12) and median number of postoperative AGM (p = 0.13) at 2 years remained stable compared to the preoperative values. The IOP remained well controlled in 4 eyes without anti-glaucoma medications and in 14 eyes with anti-glaucoma medications and none needed additional surgery for IOP control. Two eyes developed retinal detachment postoperatively. CONCLUSION: Cataract surgery in pediatric eyes with prior glaucoma surgeries, have challenges with capsulorrhexis and IOL stability. The visual outcomes were reasonably good so was the IOP control.


Asunto(s)
Extracción de Catarata , Catarata , Glaucoma , Presión Intraocular , Agudeza Visual , Humanos , Estudios Retrospectivos , Masculino , Femenino , Extracción de Catarata/métodos , Extracción de Catarata/efectos adversos , Niño , Preescolar , Presión Intraocular/fisiología , Glaucoma/cirugía , Glaucoma/fisiopatología , Catarata/complicaciones , Cirugía Filtrante/métodos , Estudios de Seguimiento , Resultado del Tratamiento , Adolescente , Complicaciones Intraoperatorias , Lactante , Trabeculectomía/métodos , Implantación de Lentes Intraoculares/métodos
2.
Sci Rep ; 14(1): 12850, 2024 06 04.
Artículo en Inglés | MEDLINE | ID: mdl-38834618

RESUMEN

This study aimed to compare the IOP-lowering effectiveness and safety of standalone Preserflo MicroShunt and iStent 1st generation implantation combined with phacoemulsification in Caucasian patients with a 12-month follow-up period. This retrospective study analyzed the medical histories of patients undergoing antiglaucoma surgery at the Department of Ophthalmology, Medical University of Bialystok, between January 2019 and January 2022. The main outcome measures were success rates (complete: proportion of eyes with IOP < 18 mmHg (criterion A) and < 15 mmHg (criterion B) or 20% reduction in IOP without any glaucoma medication; qualified: proportion of eyes achieving IOPs < 18 mmHg and < 15 mmHg or 20% reduction in IOP from baseline with or without medications), mean reduction (%) in IOP, medication burden, number of complications and additional interventions. In both groups, a significant decrease in IOP and medication burden were observed at 6 and 12 months when compared with baseline. At 12 months, qualified surgical success in criterion A was recorded in 67.4% and 85.7% of patients in the Preserfo and iStent groups, respectively (p = 0.045). Complete surgical success in criterion B at 12 months accounted to 61.4% of patients from Prserflo group and 32.7% patients in iStent group (p = 0.04). Surgical failure at 12 months was documented in 30.2% and 6.3% of patients, respectively (p = 0.003). There was a significant difference between groups in %IOP reduction after 12 months. Greater reduction was observed in Preserflo group, MD = - 8.41 CI95 [- 15.88; - 0.95], p = 0.028, (- 33.49% ± 21.59 vs - 25.07% ± 14.15 in iStent group). Both procedures effectively reduced IOP and postoperative use of antiglaucoma medications in glaucoma patients.


Asunto(s)
Glaucoma , Presión Intraocular , Procedimientos Quirúrgicos Mínimamente Invasivos , Humanos , Masculino , Femenino , Estudios Retrospectivos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Anciano , Glaucoma/cirugía , Persona de Mediana Edad , Resultado del Tratamiento , Facoemulsificación/métodos , Facoemulsificación/efectos adversos , Implantes de Drenaje de Glaucoma , Anciano de 80 o más Años
3.
BMJ Open Ophthalmol ; 9(1)2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38830728

RESUMEN

BACKGROUND: Unpreserved single-dose unit (SDU) eye drops are commonly used to avoid benzalkonium chloride-related toxicity. Although intended for single use, many patients report off-label repeated use of SDUs over a prolonged period. We investigated whether repeated use of dexamethasone 0.1% SDUs in the same patient increases the bacterial contamination rate. METHODS: We prospectively enrolled patients scheduled for inpatient corneal and glaucoma surgery receiving dexamethasone 0.1% SDU four times per day from the same vial. To assess contamination rates, one drop from the vial was cultured immediately after opening the SDU (t0), 10 hours later after four drop applications (t10) and 24 hours after opening without further drop applications (t24). Conjunctival swabs were taken before and after drop application. Contamination rate was assessed with a standard clinical culturing protocol without introducing a positive control. RESULTS: 110 eyes of 109 patients were evaluated. Drops collected immediately after opening the SDU (t0) were contaminated in 9/110 cultures (8.1%). At t10, 13/110 cultures were contaminated (11.8%; p=0.267) and 11/110 at t24 (10.0%; t24 vs t0; p=1.00). In 5 of 21 cases of contaminated drops at t10 and/or t24, the same isolates were cultured from the initial conjunctival swab and the SDU. In three cases, the same bacterial species was found in consecutive samples. CONCLUSION: The contamination rate of the SDU did not increase after multiple use within 24 hours. Contamination from fingertip flora was more likely than from ocular surface flora. Reuse of dexamethasone 0.1% SDU in the same patient within 24 hours appears to be safe.


Asunto(s)
Dexametasona , Glucocorticoides , Soluciones Oftálmicas , Conservadores Farmacéuticos , Humanos , Dexametasona/administración & dosificación , Dexametasona/efectos adversos , Soluciones Oftálmicas/efectos adversos , Masculino , Femenino , Estudios Prospectivos , Conservadores Farmacéuticos/efectos adversos , Conservadores Farmacéuticos/administración & dosificación , Anciano , Persona de Mediana Edad , Glucocorticoides/administración & dosificación , Glucocorticoides/efectos adversos , Anciano de 80 o más Años , Adulto , Contaminación de Medicamentos , Glaucoma/tratamiento farmacológico , Conjuntiva/microbiología , Conjuntiva/efectos de los fármacos , Bacterias/efectos de los fármacos , Bacterias/aislamiento & purificación , Enfermedades de la Córnea/inducido químicamente
4.
Vet Med Sci ; 10(3): e1471, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38739097

RESUMEN

A 15-month-old, grey, Thoroughbred filly presented for investigation of a 6-week history of corneal oedema and blepharospasm on the right eye (OD). The filly was otherwise healthy. Following ophthalmic examination, glaucoma on the OD was diagnosed. A space occupying mass within the anterior chamber was documented on transpalpebral ultrasonographic examination. This mass obliterated most of the anterior intraocular structures on the peripheral nasal side (corneal endothelium and drainage angle), leading to secondary glaucoma. After systemic and topical treatment addressing secondary glaucoma, the corneal oedema reduced. The mass was visualised as an irregularly rounded brown structure associated with the iris on the peripheral nasal side of the anterior chamber. Given the filly's signalment, location and appearance of the mass, a tentative diagnosis of intraocular melanoma was made and enucleation was performed. Histopathological evaluation of the globe revealed solid sheets of heavily pigmented melanocytic cells, disrupting the normal ciliary body architecture and extending into the iris and subretinal. The cells were pleomorphic, polyhedral to round with occasional spindle-shaped cells, and contained moderate to large amounts of granular black-brown pigment (melanin). The iridal component expanded into the anterior chamber, with cells directly opposed to Descemet's membrane, with loss of the endothelium and expanding and occluding the filtration angle in this area. The lesion infiltrated locally into the edge of the sclera, but did not extend through the sclera, though occasional perivascular clusters of melanophages were observed within the scleral stroma adjacent to the optic nerve. Diagnosis of a uveal melanocytic neoplasm was confirmed, with characteristics similar to only one reported case . This is a unique case of a rapidly growing, invasive, uveal melanoma in a young horse. Intraocular melanoma should be considered as a differential diagnoses for glaucoma in grey horses, regardless of the age and absence of melanocytic skin lesions.


Asunto(s)
Glaucoma , Enfermedades de los Caballos , Melanoma , Animales , Caballos , Enfermedades de los Caballos/patología , Enfermedades de los Caballos/cirugía , Glaucoma/veterinaria , Glaucoma/etiología , Melanoma/veterinaria , Melanoma/cirugía , Femenino , Neoplasias del Ojo/veterinaria , Neoplasias del Ojo/cirugía
5.
Vestn Oftalmol ; 140(2. Vyp. 2): 43-50, 2024.
Artículo en Ruso | MEDLINE | ID: mdl-38739130

RESUMEN

PURPOSE: This study investigates the influence of peripheral corneal thickness (PCT) and its curvature on tonometry readings. MATERIAL AND METHODS: The study included 49 patients (49 eyes) who were indicated for glaucoma surgery. Using bidirectional applanation tonometry, the following parameters were obtained: IOPcc, IOPg - intraocular pressure (IOP) corrected for corneal compensation, taken as the most reliable indicator; IOP converted to Goldmann measurement, taken as the result of applanation tonometry, ΔIOP (IOPcc-IOPg), CH and CRF (corneal hysteresis and corneal resistance factor). During corneal topography, the corneal thickness was studied in the center, PCT at 1.5; 2, 3, 4 and 5 mm from the center in four meridians, as well as ΔPCT (PCT 3 mm - PCT 1.5 mm), the curvature of the anterior and posterior surfaces of the cornea and the depth of the anterior chamber. Aberrometry was used to obtain refractometry data and the curvature of the anterior surface of the cornea. The influence of the studied parameters on ΔIOP was evaluated. RESULTS: ΔIOP correlated with CRF (r= -0.652), CH (r= -0.873), central corneal thickness (r= -0.293), PCT at all distances except 5 mm (r= -0.297; -0.287; -0.302; -0.303), with the strong and weak meridians of the anterior surface of the cornea (r=0.328; r=0.315), with the strong and weak meridians of the posterior surface, as well as the average curvature of the posterior surface (r=0.307; r=0.332; r=0.328). After step-by-step selection of the above parameters for creating a linear regression model for ΔIOP calculation, CH, CRF and PCT1.5mm remained in the model. The model describes ΔIOP with high accuracy (R2=0.974). CONCLUSION: Biomechanical parameters of the cornea are the leading factor of applanation tonometry error. Individual linear dimensions of the cornea (thickness, curvature) have a lesser effect.


Asunto(s)
Córnea , Topografía de la Córnea , Glaucoma , Presión Intraocular , Tonometría Ocular , Humanos , Tonometría Ocular/métodos , Córnea/diagnóstico por imagen , Presión Intraocular/fisiología , Masculino , Femenino , Persona de Mediana Edad , Topografía de la Córnea/métodos , Glaucoma/fisiopatología , Glaucoma/diagnóstico , Reproducibilidad de los Resultados , Anciano , Adulto
6.
Harefuah ; 163(5): 276-277, 2024 May.
Artículo en Hebreo | MEDLINE | ID: mdl-38734938

RESUMEN

INTRODUCTION: Ophthalmology is a broad branch of medicine, which includes an extensive range of sub-specialties on one hand, and interfaces with other fields of medicine on the other. This issue contains papers from different sub-specialties of ophthalmology, that together cover several of the most important issues in this field. These papers present the topics in a manner compatible with the wide readership of the journal, and touch upon the most current updates and innovations. The original articles in this issue deal with treatments for the prevention of myopia progression in children, treatment of complicated cases of retinal detachment in children, ocular manifestations of vascular abnormalities in patients with coronavirus, and a series of patients with corneal damage due to ultraviolet-C (UVC) lamps intended to clear the air of this virus. The review papers describe glaucoma and the current change in its treatment paradigm, which focuses on earlier intervention, ocular manifestations of systemic autoimmune diseases, and the possibilities for artificial corneal implantation. We hope that this special issue will be of interest and clinical value to its readers.


Asunto(s)
Oftalmología , Humanos , Oftalmología/métodos , Niño , Miopía/terapia , Oftalmopatías/terapia , Oftalmopatías/etiología , Glaucoma/terapia , COVID-19 , Desprendimiento de Retina/etiología , Desprendimiento de Retina/terapia
7.
Zhonghua Yan Ke Za Zhi ; 60(5): 399-402, 2024 May 11.
Artículo en Chino | MEDLINE | ID: mdl-38706076

RESUMEN

The advent of minimally invasive glaucoma surgery (MIGS) has broadened the therapeutic options for managing glaucoma. In recent years, MIGS procedures targeting the trabecular meshwork-Schlemm's canal aqueous outflow resistance site have garnered significant attention. This focus has extended to the pathophysiological changes occurring within the aqueous outflow pathway. However, questions persist regarding the efficacy of near-peripheral or peripheral trabeculotomy in achieving the anticipated reduction of outflow resistance and the suitability of MIGS surgery for patients with primary open-angle glaucoma. By integrating clinical experience with pertinent clinical research, this paper advocates for a reevaluation of MIGS procedures to aid clinicians in making informed decisions regarding various glaucoma surgical interventions.


Asunto(s)
Procedimientos Quirúrgicos Mínimamente Invasivos , Malla Trabecular , Trabeculectomía , Humanos , Malla Trabecular/cirugía , Trabeculectomía/métodos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Glaucoma de Ángulo Abierto/cirugía , Glaucoma/cirugía , Humor Acuoso
8.
Zhonghua Yan Ke Za Zhi ; 60(5): 416-422, 2024 May 11.
Artículo en Chino | MEDLINE | ID: mdl-38706079

RESUMEN

Objective: To investigate the clinical characteristics and treatment outcomes of glaucoma secondary to congenital ectropion uveae (CEU) using penetrating Schlemm's canaloplasty. Methods: This was a retrospective case series study. Medical records of patients diagnosed with glaucoma secondary to CEU and undergoing penetrating Schlemm's canaloplasty at the Eye Hospital of Wenzhou Medical University between August 2020 and December 2021 were collected. Clinical characteristics including the extent and location of iris ectropion, type of glaucoma, were analyzed. Follow-up visits were conducted at 1, 3, 6 months, and 1 year postoperatively. Visual acuity, intraocular pressure (IOP), anterior segment and fundus condition, filtering bleb morphology, use of IOP-lowering medications, ultrasound biomicroscopy results, and other indicators were analyzed to summarize surgical outcomes. Results: Six cases (6 eyes) of glaucoma secondary to CEU were included, all unilateral, with 3 left eyes and 3 right eyes; median age was 10.0 (5.3, 28.8) years; including 3 males and 3 females. Preoperative IOP was (31.7±10.0) mmHg (1 mmHg=0.133 kPa), and the preoperative number of IOP-lowering medications used was 2.0 (2.0, 3.2). The extent of iris ectropion in the 6 cases ranged from 270 ° to 360 °, with peripheral anterior synechiae corresponding to the location of iris ectropion, and angle closure with the degree of synechiae extending beyond Schwalbe's line. No surgical complications occurred in any of the 6 cases postoperatively. At 1 month postoperatively, the IOP was (16.4±3.2) mmHg, with a median of 0.0 (0.0, 1.5) medications used. At 3 months postoperatively, the IOP was (14.8±6.0) mmHg, with a median of 0.0 (0.0, 2.2) medications used. At 6 months postoperatively, the IOP was (18.1±6.1) mmHg, with a median of 0.0 (0.0, 0.5) medications used. Among them, 5 patients had a follow-up period of 1 year postoperatively, all achieving controlled IOP without the use of IOP-lowering medications, with an average IOP of (15.5±3.1) mmHg. No obvious filtering bleb formation was observed at the surgical site in all patients. Conclusions: Glaucoma secondary to CEU manifests primarily as closed-angle glaucoma, with a correspondence between the closure range of anterior iris adhesions in the angle and the extent of iris ectropion. Penetrating Schlemm's canaloplasty demonstrates favorable and stable efficacy for its treatment.


Asunto(s)
Ectropión , Glaucoma , Presión Intraocular , Humanos , Estudios Retrospectivos , Masculino , Femenino , Glaucoma/cirugía , Glaucoma/etiología , Ectropión/etiología , Ectropión/cirugía , Niño , Preescolar , Adulto , Úvea/cirugía , Cirugía Filtrante/métodos , Resultado del Tratamiento , Agudeza Visual , Iris/cirugía , Adulto Joven , Adolescente
9.
Zhonghua Yan Ke Za Zhi ; 60(5): 430-439, 2024 May 11.
Artículo en Chino | MEDLINE | ID: mdl-38706081

RESUMEN

Objective: To evaluate the efficacy and safety of glaucoma drainage implants(XEN-45 Gel Stent) for glaucoma treatment. Methods: A prospective study was conducted to continuously collect the clinical data of patients who were diagnosed with glaucoma and underwent XEN-45 Gel Stent implantation in the Ophthalmology Department of Peking University People's Hospital from January 2022 to August 2023. The visual acuity, intraocular pressure, number of glaucoma medications, and success rate of the patients were analyzed before and after surgery at 1 day, 1 week, 1 month, 3 months, 6 months, 12 months, and 18 months. The differences in intraocular pressure and number of glaucoma medications among primary open-angle glaucoma, primary angle closure glaucoma, secondary glaucoma, and different implantation methods of XEN-45 Gel Stent among patients with primary open-angle glaucoma were compared. The intraoperative and postoperative complications were observed, and the risk factors for needling and surgical complete success were analyzed. Results: A total of 48 eyes from 48 patients were included in this study, comprising 27 males and 21 females, with a mean age of (54.4±18.0) years and the disease duration was 36.0(7.3, 81.0) months.There were 28 cases of primary open-angle glaucoma, 4 cases of primary angle closure glaucoma, and 16 cases of secondary glaucoma.The follow-up period was 8.0 (3.0, 12.0) months. At 12 months after surgery, the intraocular pressure decreased from 20.5 (17.0, 26.0) mmHg to (13.5±3.3) mmHg (P<0.05), and the number of glaucoma medications decreased from 3.0 (3.0, 4.0) to 0.0 (0.0, 0.0) (P<0.05). The complete success rate and qualified success rate were 73.9% (17/23) and 91.3% (21/23), respectively. The most common postoperative complications were shallow anterior chamber in 6 cases (12.5%), hypotony in 3 cases (6.3%), and blocked stent in 3 cases (6.3%). The most common postoperative treatment was needling in 27 cases (56.3%). There was no significant difference in intraocular pressure among different types of glaucoma. In the comparison of postoperative effects of different surgical implantation methods for primary open-angle glaucoma, there were no statistically significant differences in intraocular pressure and the number of glaucoma medications at other follow-up time points except 1 month after surgery (P<0.05). Univariate logistic regression analysis did not find any risk factors associated with needling and surgical complete success. Conclusions: XEN-45 Gel Stent implantation is an effective and safe surgical option for different types of glaucoma patients in China, which can significantly reduce intraocular pressure and the use of glaucoma medications and has a high success rate. However, some patients may need needling or other treatments after surgery.


Asunto(s)
Implantes de Drenaje de Glaucoma , Glaucoma de Ángulo Abierto , Glaucoma , Presión Intraocular , Humanos , Masculino , Femenino , Persona de Mediana Edad , Estudios Prospectivos , Glaucoma/cirugía , Glaucoma de Ángulo Abierto/cirugía , Resultado del Tratamiento , Anciano , Glaucoma de Ángulo Cerrado/cirugía
10.
FASEB J ; 38(10): e23651, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38752537

RESUMEN

Singleton-Merten syndrome (SMS) is a rare immunogenetic disorder affecting multiple systems, characterized by dental dysplasia, aortic calcification, glaucoma, skeletal abnormalities, and psoriasis. Glaucoma, a key feature of both classical and atypical SMS, remains poorly understood in terms of its molecular mechanism caused by DDX58 mutation. This study presented a novel DDX58 variant (c.1649A>C [p.Asp550Ala]) in a family with childhood glaucoma. Functional analysis showed that DDX58 variant caused an increase in IFN-stimulated gene expression and high IFN-ß-based type-I IFN. As the trabecular meshwork (TM) is responsible for controlling intraocular pressure (IOP), we examine the effect of IFN-ß on TM cells. Our study is the first to demonstrate that IFN-ß significantly reduced TM cell viability and function by activating autophagy. In addition, anterior chamber injection of IFN-ß remarkably increased IOP level in mice, which can be attenuated by treatments with autophagy inhibitor chloroquine. To uncover the specific mechanism underlying IFN-ß-induced autophagy in TM cells, we performed microarray analysis in IFN-ß-treated and DDX58 p.Asp550Ala TM cells. It showed that RSAD2 is necessary for IFN-ß-induced autophagy. Knockdown of RSAD2 by siRNA significantly decreased autophagy flux induced by IFN-ß. Our findings suggest that DDX58 mutation leads to the overproduction of IFN-ß, which elevates IOP by modulating autophagy through RSAD2 in TM cells.


Asunto(s)
Autofagia , Interferón beta , Presión Intraocular , Malla Trabecular , Autofagia/efectos de los fármacos , Malla Trabecular/metabolismo , Malla Trabecular/efectos de los fármacos , Humanos , Animales , Ratones , Presión Intraocular/fisiología , Interferón beta/metabolismo , Masculino , Femenino , Glaucoma/patología , Glaucoma/metabolismo , Glaucoma/genética , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/patología , Pérdida Auditiva Sensorineural/metabolismo , Proteína 58 DEAD Box/metabolismo , Proteína 58 DEAD Box/genética , Ratones Endogámicos C57BL , Mutación , Atrofia Óptica/genética , Atrofia Óptica/metabolismo , Atrofia Óptica/patología , Linaje , Odontodisplasia , Calcificación Vascular , Hipoplasia del Esmalte Dental , Metacarpo/anomalías , Osteoporosis , Enfermedades Musculares , Enfermedades de la Aorta , Receptores Inmunológicos
11.
Harefuah ; 163(5): 298-304, 2024 May.
Artículo en Hebreo | MEDLINE | ID: mdl-38734943

RESUMEN

INTRODUCTION: Glaucoma is a progressive optic neuropathy and is the leading cause of preventable irreversible blindness worldwide. Glaucoma causes progressive visual field loss and can have significant implications on the patient's quality of life. Lowering intraocular pressure (IOP) is the only treatment proven to prevent vision loss from glaucoma. It is achieved using medication, laser treatment and surgery. The treatment paradigm of glaucoma has been one whereby surgical intervention has been left for advanced cases due to a variety of reasons, mainly concerning safety and long term success. The past two decades have seen a paradigm shift towards earlier IOP lowering interventions using a wide array of different technologies in the laser and surgical spaces. This review aims to understand the background to this paradigm shift, its necessity, and its potential impact on the vision and life of glaucoma patients.


Asunto(s)
Glaucoma , Presión Intraocular , Terapia por Láser , Calidad de Vida , Humanos , Glaucoma/terapia , Glaucoma/cirugía , Presión Intraocular/fisiología , Terapia por Láser/métodos , Ceguera/etiología , Ceguera/prevención & control , Campos Visuales/fisiología , Progresión de la Enfermedad , Enfermedades del Nervio Óptico/etiología , Enfermedades del Nervio Óptico/terapia
12.
BMC Genomics ; 25(1): 484, 2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38755526

RESUMEN

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.


Asunto(s)
Glaucoma , Humanos , Glaucoma/genética , Glaucoma/diagnóstico , Masculino , Femenino , Niño , Preescolar , Citocromo P-450 CYP1B1/genética , Mutación , Lactante , Genómica/métodos , Linaje , Adolescente , Factores de Transcripción Forkhead
14.
Lasers Med Sci ; 39(1): 136, 2024 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-38795228

RESUMEN

PURPOSE: The goal of this study was to compare the settings and effectiveness of the original P3 and revised P3 probes for micropulse transscleral cyclophotocoagulation. METHODS: This retrospective cross sectional study includes a total of 56 patients with glaucoma who received micropulse transscleral cyclophotocoagulation. 32 patients received treatment with the original P3 probe and 24 received treatment with the revised P3 probe. Success was defined as a 20% reduction in intraocular pressure. Laser settings, pre-op and post-op intraocular pressures, and pre-op and post-op medications were assessed. RESULTS: A 20% IOP reduction was achieved in 50% of patients in the original probe vs. 58.3% in the revised probe at one month (P = 0.536) and 71.9% vs. 50% at three months (P = 0.094), respectively. The revised P3 probe used higher values of power (2500 mW vs. 2023 mW, P < 0.0001), total duration (217 s vs. 179 s, P < 0.0001), and energy (170 J vs. 113 J, P < 0.001). There was a significant decrease in IOP lowering meds with the original probe at one month (-0.9 +/- 1.5 vs. -0.0 +/- 0.7, P = 0.010), but this was not seen at three months. CONCLUSIONS: There is no significant difference in IOP lowering effect between probes despite the revised probe using higher total energy. The original probe may be associated with fewer medications at 1 month, but not at 3 months. Further studies with longer follow up are needed to optimize the treatment parameters in order to maximize effectiveness while limiting side effects.


Asunto(s)
Glaucoma , Presión Intraocular , Coagulación con Láser , Humanos , Estudios Retrospectivos , Femenino , Masculino , Estudios Transversales , Persona de Mediana Edad , Presión Intraocular/fisiología , Glaucoma/cirugía , Coagulación con Láser/métodos , Coagulación con Láser/instrumentación , Anciano , Esclerótica/cirugía , Resultado del Tratamiento , Adulto , Cuerpo Ciliar/cirugía , Anciano de 80 o más Años
15.
Biomed Pharmacother ; 175: 116711, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38735082

RESUMEN

Glaucoma, the leading cause of irreversible blindness worldwide, is characterized by neurodegeneration and neuroinflammation with retinal NAD/NADP and GSH decline. Nicotinamide adenine dinucleotide (NAD)/NAD phosphate (NADP) and glutathione (GSH) are two redox reducers in neuronal and glial metabolism. However, therapeutic strategies targeting NAD/NADP or GSH do not exert ideal effects, and the underlying mechanisms are still poorly understood. We assessed morphological changes in retinal ganglion cells (RGCs), the affected neurons in glaucoma, and Müller cells, the major glial cells in the retina, as well as the levels of phosphorylated p38 (p-p38) and Caspase-3 in glaucoma patients. We constructed a modified chronic ocular hypertensive rat model and an oxygen-glucose deprivation (OGD) cell model. After applying NADPH and N-acetylcysteine (NAC), a precursor to cysteine, the rate-limiting substrate in GSH biosynthesis, to cells, apoptosis, axonal damage and peroxidation were reduced in the RGCs of the NAC group and p-p38 levels were decreased in the RGCs of the NADPH group, while in stimulated Müller cells cultured individually or cocultured with RGCs, gliosis and p38/MAPK, rather than JNK/MAPK, activation were inhibited. The results were more synergistic in the rat model, where either NADPH or NAC showed crossover effects on inhibiting peroxidation and p38/MAPK pathway activation. Moreover, the combination of NADPH and NAC ameliorated RGC electrophysiological function and prevented Müller cell gliosis to the greatest extent. These data illustrated conjoined mechanisms in glaucomatous RGC injury and Müller cell gliosis and suggested that NADPH and NAC collaborate as a neuroprotective and anti-inflammatory combination treatment for glaucoma and other underlying human neurodegenerative diseases.


Asunto(s)
Acetilcisteína , NADP , Hipertensión Ocular , Ratas Sprague-Dawley , Células Ganglionares de la Retina , Proteínas Quinasas p38 Activadas por Mitógenos , Animales , NADP/metabolismo , Proteínas Quinasas p38 Activadas por Mitógenos/metabolismo , Hipertensión Ocular/metabolismo , Hipertensión Ocular/tratamiento farmacológico , Hipertensión Ocular/patología , Acetilcisteína/farmacología , Ratas , Masculino , Células Ganglionares de la Retina/efectos de los fármacos , Células Ganglionares de la Retina/metabolismo , Células Ganglionares de la Retina/patología , Glaucoma/metabolismo , Glaucoma/patología , Glaucoma/tratamiento farmacológico , Enfermedades Neuroinflamatorias/tratamiento farmacológico , Enfermedades Neuroinflamatorias/metabolismo , Humanos , Células Ependimogliales/efectos de los fármacos , Células Ependimogliales/metabolismo , Células Ependimogliales/patología , Modelos Animales de Enfermedad , Sistema de Señalización de MAP Quinasas/efectos de los fármacos , Apoptosis/efectos de los fármacos , Enfermedad Crónica , Fármacos Neuroprotectores/farmacología , Células Cultivadas , Peroxidación de Lípido/efectos de los fármacos
16.
BMC Ophthalmol ; 24(1): 227, 2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38811878

RESUMEN

OBJECTIVE: To present six cases exhibiting transient anterior subcapsular vacuolar lens opacities following early postoperative Tanito microhook trabeculotomy (TMH) performed by the same surgeon. METHODS: Six patients who underwent lens-sparing TMH at Meizankai Shimizu Eye Clinic from November 2021 to May 2023, and developed anterior subcapsular vacuolar lens opacities postoperatively were reviewed. Detailed records of surgeries, follow-up findings were collected and reported. RESULTS: In all six cases, anterior vacuolar subcapsular lens opacities were observed on the day after surgery, gradually decreasing without affecting visual acuity or contrast sensitivity. In all cases, without any specific interventions, the opacities disappeared by 21 months postoperatively. CONCLUSION: Anterior subcapsular cataracts, characterized by a vacuolar appearance and transient existence, should be recognized as an early complication of ab interno glaucoma surgery, possibly linked to use of distributed ophthalmic viscosurgical devices and excessive anterior chamber irrigation leading to traumatic cataracts on the lens surface.


Asunto(s)
Catarata , Trabeculectomía , Agudeza Visual , Humanos , Trabeculectomía/efectos adversos , Femenino , Masculino , Persona de Mediana Edad , Anciano , Complicaciones Posoperatorias , Cápsula del Cristalino/cirugía , Cápsula del Cristalino/patología , Vacuolas/patología , Estudios Retrospectivos , Presión Intraocular/fisiología , Glaucoma/cirugía , Adulto
17.
J Transl Med ; 22(1): 440, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720358

RESUMEN

PURPOSE: To explore the impact of microRNA 146a (miR-146a) and the underlying mechanisms in profibrotic changes following glaucoma filtering surgery (GFS) in rats and stimulation by transforming growth factor (TGF)-ß1 in rat Tenon's capsule fibroblasts. METHODS: Cultured rat Tenon's capsule fibroblasts were treated with TGF-ß1 and analyzed with microarrays for mRNA profiling to validate miR-146a as the target. The Tenon's capsule fibroblasts were then respectively treated with lentivirus-mediated transfection of miR-146a mimic or inhibitor following TGF-ß1 stimulation in vitro, while GFS was performed in rat eyes with respective intraoperative administration of miR-146a, mitomycin C (MMC), or 5-fluorouracil (5-FU) in vivo. Profibrotic genes expression levels (fibronectin, collagen Iα, NF-KB, IL-1ß, TNF-α, SMAD4, and α-smooth muscle actin) were determined through qPCR, Western blotting, immunofluorescence staining and/or histochemical analysis in vitro and in vivo. SMAD4 targeting siRNA was further used to treat the fibroblasts in combination with miR-146a intervention to confirm its role in underlying mechanisms. RESULTS: Upregulation of miR-146a reduced the proliferation rate and profibrotic changes of rat Tenon's capsule fibroblasts induced by TGF-ß1 in vitro, and mitigated subconjunctival fibrosis to extend filtering blebs survival after GFS in vivo, where miR-146a decreased expression levels of NF-KB-SMAD4-related genes, such as fibronectin, collagen Iα, NF-KB, IL-1ß, TNF-α, SMAD4, and α-smooth muscle actin(α-SMA). Additionally, SMAD4 is a key target gene in the process of miR-146a inhibiting fibrosis. CONCLUSIONS: MiR-146a effectively reduced TGF-ß1-induced fibrosis in rat Tenon's capsule fibroblasts in vitro and in vivo, potentially through the NF-KB-SMAD4 signaling pathway. MiR-146a shows promise as a novel therapeutic target for preventing fibrosis and improving the success rate of GFS.


Asunto(s)
Fibroblastos , Fibrosis , Cirugía Filtrante , Glaucoma , MicroARNs , Ratas Sprague-Dawley , Animales , MicroARNs/metabolismo , MicroARNs/genética , Glaucoma/patología , Glaucoma/genética , Cirugía Filtrante/efectos adversos , Fibroblastos/metabolismo , Masculino , Cápsula de Tenon/metabolismo , Cápsula de Tenon/patología , Proliferación Celular/efectos de los fármacos , Factor de Crecimiento Transformador beta1/metabolismo , Ratas , Proteína Smad4/metabolismo , Proteína Smad4/genética , FN-kappa B/metabolismo , Mitomicina/farmacología , Mitomicina/uso terapéutico , Regulación de la Expresión Génica
18.
J Pediatr Ophthalmol Strabismus ; 61(3): e19-e22, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38788140

RESUMEN

The authors report a case of a 5-month-old full-term infant with chronic conjunctival redness and elevated intraocular pressure in the right eye. Magnetic resonance imaging ruled out leptomeningeal angiomatosis. Despite lacking a typical port-wine mark, the diagnosis of Sturge-Weber syndrome was established based on specific observations in the right eye that involved unilateral vascular glaucoma. These findings included Haab striae, a larger axial length measurement, an increased number of episcleral vessels with blood in Schlemm canal, and a thicker choroid in the macular region. This is the first reported pediatric case with these specific ocular manifestations in the absence of facial angioma, highlighting the need for awareness among clinicians to avoid misdiagnosis and facilitate proper management. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e19-e22.].


Asunto(s)
Glaucoma , Hemangioma , Presión Intraocular , Imagen por Resonancia Magnética , Síndrome de Sturge-Weber , Humanos , Síndrome de Sturge-Weber/diagnóstico , Lactante , Glaucoma/diagnóstico , Hemangioma/diagnóstico , Presión Intraocular/fisiología , Masculino , Diagnóstico Diferencial , Femenino , Neoplasias Faciales/diagnóstico
19.
Invest Ophthalmol Vis Sci ; 65(5): 32, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38771570

RESUMEN

Purpose: To evaluate VEGF-C-induced lymphoproliferation in conjunction with 5-fluorouracil (5-FU) antimetabolite treatment in a rabbit glaucoma filtration surgery (GFS) model. Methods: Thirty-two rabbits underwent GFS and were assigned to four groups (n = 8 each) defined by subconjunctival drug treatment: (a) VEGF-C combined with 5-FU, (b) 5-FU, (c) VEGF-C, (d) and control. Bleb survival, bleb measurements, and IOP were evaluated over 30 days. At the end, histology and anterior segment OCT were performed on some eyes. mRNA was isolated from the remaining eyes for RT-PCR evaluation of vessel-specific markers (lymphatics, podoplanin and LYVE-1; and blood vessels, CD31). Results: Qualitatively and quantitatively, VEGF-C combined with 5-FU resulted in blebs which were posteriorly longer and wider than the other conditions: vs. 5-FU (P = 0.043 for longer, P = 0.046 for wider), vs. VEGF-C (P < 0.001, P < 0.001) and vs. control (P < 0.001, P < 0.001). After 30 days, the VEGF-C combined with 5-FU condition resulted in longer bleb survival compared with 5-FU (P = 0.025), VEGF-C (P < 0.001), and control (P < 0.001). Only the VEGF-C combined with 5-FU condition showed a negative correlation between IOP and time that was statistically significant (r = -0.533; P = 0.034). Anterior segment OCT and histology demonstrated larger blebs for the VEGF-C combined with 5-FU condition. Only conditions including VEGF-C led to increased expression of lymphatic markers (LYVE-1, P < 0.001-0.008 and podoplanin, P = 0.002-0.011). Expression of CD31 was not different between the groups (P = 0.978). Conclusions: Adding VEGF-C lymphoproliferation to standard antimetabolite treatment improved rabbit GFS success and may suggest a future strategy to improve human GFSs.


Asunto(s)
Modelos Animales de Enfermedad , Fluorouracilo , Glaucoma , Presión Intraocular , Trabeculectomía , Factor C de Crecimiento Endotelial Vascular , Animales , Conejos , Fluorouracilo/uso terapéutico , Fluorouracilo/farmacología , Glaucoma/cirugía , Glaucoma/fisiopatología , Glaucoma/tratamiento farmacológico , Factor C de Crecimiento Endotelial Vascular/metabolismo , Trabeculectomía/métodos , Presión Intraocular/fisiología , Antimetabolitos/farmacología , Antimetabolitos/uso terapéutico , Tomografía de Coherencia Óptica , Conjuntiva , ARN Mensajero/genética
20.
Zhonghua Yan Ke Za Zhi ; 60(5): 403-407, 2024 May 11.
Artículo en Chino | MEDLINE | ID: mdl-38706077

RESUMEN

Over the years, there has been significant advancement in the safety and effectiveness of external cyclosurgery for glaucoma. This progress ranges from the initial "cyclodestructive surgery" to modern cycloplasty techniques, expanding beyond end-stage glaucoma treatment. Notably, innovative approaches like micropulse transscleral cycloplasty and ultrasonic cycloplasty are now being employed in earlier stages of glaucoma with better visual acuity, qualifying as minimally invasive procedures. Through a comprehensive review of the historical evolution of external cyclosurgery, elucidation of the mechanisms, clinical outcomes, and potential complications associated with novel cycloplasty techniques, and integration of practical clinical insights, this article aims to furnish clinicians with a profound comprehension of external cyclosurgery for glaucoma.


Asunto(s)
Cuerpo Ciliar , Glaucoma , Procedimientos Quirúrgicos Mínimamente Invasivos , Esclerótica , Humanos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Glaucoma/cirugía , Esclerótica/cirugía , Cuerpo Ciliar/cirugía
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