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OBJECTIVE: To determine whether Xanthelasma palpebrarum (XP) is associated with dyslipidemia, cardiovascular disease (CVD) and other systemic conditions in a large population. DESIGN: Case-control study conducted at a single tertiary care center. PARTICIPANTS: Individuals who were examined at a medical screening institute from 2001 to 2020. METHODS: Medical records were reviewed to extract data on ophthalmic evaluations, blood tests, and systemic diagnoses. Patients identified with XP in at least one eye comprised the study group. A control group without XP was established matched by age and sex at a 10:1 ratio to allow robust statistical analysis. MAIN OUTCOME MEASURES: Associations between XP and dyslipidemia and CVD. Lipid profiles, diagnosis of dyslipidemia and CVD were compared between the case and control groups. RESULTS: The database included 35,452 individuals, 24,287 males (69%), mean age 52.2±12.2 years. The study population included 203 XP patients (0.6%) and 2030 matched controls. The prevalence of dyslipidemia diagnosis and the usage rates of statins, fibrates, or other cholesterol-lowering medications was similar between the two groups. Lipid profiles were similar between the groups, including median total cholesterol, high-density lipoprotein, low-density lipoprotein, and triglyceride levels (187 controls vs. 192 XP, 48 controls vs. 47 XP, 120 controls vs. 125 XP, 111 controls vs. 105 XP, respectively, P>0.05 for all). The rate of CVD was similar as well (10% controls vs. 8.9%, XP P=0.56). The prevalences of related conditions, including hypertension, diabetes mellitus, and history of cerebrovascular accident, were similar between groups (24% controls vs. 23% XP, 14% controls vs. 10% XP, 1.3% controls vs. 1% XP, respectively P>0.05). CONCLUSIONS: XP was not associated with increased rates of dyslipidemia or CVD. This questions the extent to which XP serves as an indicative marker for heightened systemic risk.
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PURPOSE: To describe the clinical presentation and treatment outcomes of children who received a diagnosis of retinoblastoma in 2017 throughout Asia. DESIGN: Multinational, prospective study including treatment-naïve patients in Asia who received a diagnosis of retinoblastoma in 2017 and were followed up thereafter. PARTICIPANTS: A total of 2112 patients (2797 eyes) from 96 retinoblastoma treatment centers in 33 Asian countries. INTERVENTIONS: Chemotherapy, radiotherapy, enucleation, and orbital exenteration. MAIN OUTCOME MEASURES: Enucleation and death. RESULTS: Within the cohort, 1021 patients (48%) were from South Asia (SA), 503 patients (24%) were from East Asia (EA), 310 patients (15%) were from Southeast Asia (SEA), 218 patients (10%) were from West Asia (WA), and 60 patients (3%) were from Central Asia (CA). Mean age at presentation was 27 months (median, 23 months; range, < 1-261 months). The cohort included 1195 male patients (57%) and 917 female patients (43%). The most common presenting symptoms were leukocoria (72%) and strabismus (13%). Using the American Joint Committee on Cancer Staging Manual, Eighth Edition, classification, tumors were staged as cT1 (n = 441 [16%]), cT2 (n = 951 [34%]), cT3 (n = 1136 [41%]), cT4 (n = 267 [10%]), N1 (n = 48 [2%]), and M1 (n = 129 [6%]) at presentation. Retinoblastoma was treated with intravenous chemotherapy in 1450 eyes (52%) and 857 eyes (31%) underwent primary enucleation. Three-year Kaplan-Meier estimates for enucleation and death were 33% and 13% for CA, 18% and 4% for EA, 27% and 15% for SA, 32% and 22% for SEA, and 20% and 11% for WA (P < 0.0001 and P < 0.0001), respectively. CONCLUSIONS: At the conclusion of this study, significant heterogeneity was found in treatment outcomes of retinoblastoma among the regions of Asia. East Asia displayed better outcomes with higher rates of globe and life salvage, whereas Southeast Asia showed poorer outcomes compared with the rest of Asia. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Neoplasias de la Retina , Retinoblastoma , Niño , Humanos , Masculino , Femenino , Lactante , Preescolar , Retinoblastoma/diagnóstico , Retinoblastoma/epidemiología , Retinoblastoma/terapia , Neoplasias de la Retina/diagnóstico , Neoplasias de la Retina/epidemiología , Neoplasias de la Retina/terapia , Estudios Prospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Resultado del Tratamiento , Asia/epidemiología , Estudios Retrospectivos , Enucleación del OjoRESUMEN
INTRODUCTION: Our aim was to explore the impact of various systemic and ocular findings on predicting the development of glaucoma. METHODS: Medical records of 37,692 consecutive patients examined at a single medical center between 2001 and 2020 were analyzed using machine learning algorithms. Systemic and ocular features were included. Univariate and multivariate analyses followed by CatBoost and Light gradient-boosting machine prediction models were performed. Main outcome measures were systemic and ocular features associated with progression to glaucoma. RESULTS: A total of 7,880 patients (mean age 54.7 ± 12.6 years, 5,520 males [70.1%]) were included in a 3-year prediction model, and 314 patients (3.98%) had a final diagnosis of glaucoma. The combined model included 185 systemic and 42 ocular findings, and reached an ROC AUC of 0.84. The associated features were intraocular pressure (48.6%), cup-to-disk ratio (22.7%), age (8.6%), mean corpuscular volume (MCV) of red blood cell trend (5.2%), urinary system disease (3.3%), MCV (2.6%), creatinine level trend (2.1%), monocyte count trend (1.7%), ergometry metabolic equivalent task score (1.7%), dyslipidemia duration (1.6%), prostate-specific antigen level (1.2%), and musculoskeletal disease duration (0.5%). The ocular prediction model reached an ROC AUC of 0.86. Additional features included were age-related macular degeneration (10.0%), anterior capsular cataract (3.3%), visual acuity (2.0%), and peripapillary atrophy (1.3%). CONCLUSIONS: Ocular and combined systemic-ocular models can strongly predict the development of glaucoma in the forthcoming 3 years. Novel progression indicators may include anterior subcapsular cataracts, urinary disorders, and complete blood test results (mainly increased MCV and monocyte count).
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Catarata , Glaucoma , Masculino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Glaucoma/diagnóstico , Ojo , Presión Intraocular , Tonometría Ocular , Catarata/complicacionesRESUMEN
PURPOSE: To examine the ophthalmic data from a large database of people attending a general medical survey institute, and to investigate ophthalmic findings of the eye and its adnexa, including differences in age and sex. METHODS: Retrospective analysis including medical data of all consecutive individuals whose ophthalmic data and the prevalences of ocular pathologies were extracted from a very large database of subjects examined at a single general medical survey institute. RESULTS: Data were derived from 184,589 visits of 3676 patients (mean age 52 years, 68% males). The prevalence of the following eye pathologies were extracted. Eyelids: blepharitis (n = 4885, 13.3%), dermatochalasis (n = 4666, 12.7%), ptosis (n = 677, 1.8%), ectropion (n = 73, 0.2%), and xanthelasma (n = 160, 0.4%). Anterior segment: pinguecula (n = 3368, 9.2%), pterygium (n = 852, 2.3%), and cataract or pseudophakia (n = 9381, 27.1%). Cataract type (percentage of all phakic patients): nuclear sclerosis (n = 8908, 24.2%), posterior subcapsular (n = 846, 2.3%), and capsular anterior (n = 781, 2.1%). Pseudophakia was recorded for 697 patients (4.6%), and posterior subcapsular opacification for 229 (0.6%) patients. Optic nerve head (ONH): peripapillary atrophy (n = 4947, 13.5%), tilted disc (n = 3344, 9.1%), temporal slope (n = 410, 1.1%), ONH notch (n = 61, 0.2%), myelinated nerve fiber layer (n = 94, 0.3%), ONH drusen (n = 37, 0.1%), optic pit (n = 3, 0.0%), and ON coloboma (n = 4, 0.0%). Most pathologies were more common in males except for ONH, and most pathologies demonstrated a higher prevalence with increasing age. CONCLUSIONS: Normal ophthalmic data and the prevalences of ocular pathologies were extracted from a very large database of subjects seen at a single medical survey institute.
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Catarata , Seudofaquia , Adulto , Masculino , Humanos , Persona de Mediana Edad , Femenino , Prevalencia , Estudios Retrospectivos , Nervio ÓpticoRESUMEN
BACKGROUND: Anterior visual pathway meningiomas (AVPM) represent 2.5%-18% of all meningiomas. They may affect visual function, including visual acuity (VA) and visual field (VF). The principal modes of treatment are surgery and radiotherapy. The prognostic value of macular ganglion cell complex count (GCC) thickness has not been assessed in the literature thus far. The purpose of this study was to evaluate the prognostic value of pre-treatment optical coherence tomography (OCT) parameters (retinal nerve fiber layer and GCC) for visual outcomes in patients with AVPM. METHODS: We retrospectively reviewed the medical records of all patients with AVPM who were treated in the Sheba Medical Center between 2011 and 2020. Included were patients with valid data containing preintervention OCT findings on the CIRRUS device and a minimum follow-up of 6 months. Preintervention and postintervention data on comprehensive ophthalmic examinations and OCT parameters of the affected eyes were retrieved. The correlation between preintervention OCT parameters and the visual outcome was assessed. The patients were also divided into 2 groups according to preintervention GCC (thin vs normal), and the visual outcome was compared between groups. RESULTS: In total, 186 patients' medical records were analyzed, and 38 patients who met the inclusion criteria were included in the study (mean age at diagnosis 52.8 ± 12.2 years, 28 women). Twenty-nine patients had 1 affected eye, and 9 had bilateral insult. A higher preinterventional average GCC was associated with better VA at 6 months, 1 year, and 2 years after intervention (r = -0.5, P ≤ 0.004, 0.005, and 0.03, respectively). There was a significant correlation between preinterventional GCC and VF mean deviation 2 years after intervention (r = 0.7, P ≤ 0.001). The thinner the GCC, the more prominent was the change in VA from before intervention to 2 years after intervention ( P ≤ 0.008). Correction for multiple comparisons with the Benjamini-Hochberg procedure did not change the significance of our findings. CONCLUSIONS: OCT parameters (GCC) have a predictive value in AVPM. There is strong correlation between preinterventional GCC and VA shortly after the intervention. Although a thin GCC is generally considered a negative prognostic factor, improvement in clinical parameters was also evident in patients with thin GCC. The potential of improvement despite preinterventional GCC thinning can add to the clinical discussion of the prognosis, and therefore, we recommend the patients with AVPM to undergo OCT and to be advised that GCC thinning alone should not be used as a major criterion in deciding whether treatment should be pursued.
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Neoplasias Meníngeas , Meningioma , Humanos , Femenino , Adulto , Persona de Mediana Edad , Anciano , Tomografía de Coherencia Óptica/métodos , Meningioma/diagnóstico por imagen , Estudios Retrospectivos , Vías Visuales/diagnóstico por imagen , Fibras Nerviosas , Pronóstico , Células Ganglionares de la Retina , Neoplasias Meníngeas/diagnóstico por imagen , Presión IntraocularRESUMEN
PURPOSE: Keratoconus relapse after penetrating keratoplasty is a rare condition that may result in severe visual deterioration and corneal graft thinning. Therefore, treatment to stabilize the cornea should be considered. The purpose of this study was to evaluate the safety and efficacy of Corneal Cross-Linking (CXL) in eyes with relapse of keratoconus after penetrating keratoplasty for keratoconus. MATERIALS AND METHODS: A retrospective review of eyes that developed keratoconus relapse following a penetrating keratoplasty and treated with CXL. The main outcome measures were change in maximal keratometry (Kmax), best-corrected distance visual acuity (BCVA), thinnest corneal thickness (TCT) and central corneal thickness (CCT), and complications. RESULTS: We identified 10 consecutive eyes of 9 patients. Preoperative median BCVA before the CXL and 1 year after the CXL procedure remained stable (p = 0.68). The median (IQR) of Kmax improved from 63.2 (24.9) D before the CXL procedure to 62.2 (27.1) D at 1 year postoperatively (P = 0.028). Median TCT and CCT also remained with no significant change 1 year after CXL. No complications were noted following the procedure. CONCLUSION: CXL in eyes with keratoconus relapse after keratoplasty is a safe and effective procedure enabling not only visual stabilization but also might bring keratometry improvement. Routine follow-up after keratoplasty should be performed for early detection of keratoconus relapse and CXL is timely advised when such a relapse is documented.
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Trasplante de Córnea , Queratocono , Fotoquimioterapia , Humanos , Queratocono/diagnóstico , Queratocono/tratamiento farmacológico , Queratocono/cirugía , Fotoquimioterapia/métodos , Reticulación Corneal , Fármacos Fotosensibilizantes/uso terapéutico , Rayos Ultravioleta , Agudeza Visual , Riboflavina/uso terapéutico , Topografía de la Córnea/métodos , Estudios de Seguimiento , Enfermedad Crónica , Reactivos de Enlaces Cruzados/uso terapéuticoRESUMEN
Prolonged cytopenias are a non-specific sign with a wide differential diagnosis. Among inherited disorders, cytopenias predisposing to leukemia require a timely and accurate diagnosis to ensure appropriate medical management, including adequate monitoring and stem cell transplantation prior to the development of leukemia. We aimed to define the types and prevalences of the genetic causes leading to persistent cytopenias in children. The study comprises children with persistent cytopenias, myelodysplastic syndrome, aplastic anemia, or suspected inherited bone marrow failure syndromes, who were referred for genetic evaluation from all pediatric hematology centers in Israel during 2016-2019. For variant detection, we used Sanger sequencing of commonly mutated genes and a custom-made targeted next-generation sequencing panel covering 226 genes known to be mutated in inherited cytopenias; the minority subsequently underwent whole exome sequencing. In total, 189 children with persistent cytopenias underwent a genetic evaluation. Pathogenic and likely pathogenic variants were identified in 59 patients (31.2%), including 47 with leukemia predisposing syndromes. Most of the latter (32, 68.1%) had inherited bone marrow failure syndromes, nine (19.1%) had inherited thrombocytopenia predisposing to leukemia, and three each (6.4%) had predisposition to myelodysplastic syndrome or congenital neutropenia. Twelve patients had cytopenias with no known leukemia predisposition, including nine children with inherited thrombocytopenia and three with congenital neutropenia. In summary, almost one third of 189 children referred with persistent cytopenias had an underlying inherited disorder; 79.7% of whom had a germline predisposition to leukemia. Precise diagnosis of children with cytopenias should direct follow-up and management programs and may positively impact disease outcome.
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Anemia Aplásica , Leucemia , Síndromes Mielodisplásicos , Neutropenia , Trombocitopenia , Anemia Aplásica/genética , Niño , Síndromes Congénitos de Insuficiencia de la Médula Ósea , Susceptibilidad a Enfermedades , Humanos , Síndromes Mielodisplásicos/diagnóstico , Síndromes Mielodisplásicos/genética , Neutropenia/congénito , Neutropenia/genética , Trombocitopenia/diagnóstico , Trombocitopenia/genéticaRESUMEN
PURPOSE: Müller's muscle is a sympathetically innervated smooth muscle which serves as an accessory upper eyelid retractor. Its physiologic function and purpose have not yet been clearly defined. We hypothesize that sympathetic innervation to Müller's muscle serves to adjust the upper eyelid's position to variations in pupil size in response to changes in light intensity. METHODS: This is a single center cross-sectional study. Healthy volunteers were asked to fixate on a distant non-accommodative target, and a video scan of the anterior segment was performed for each subject's right eye using the Heidelberg Spectralis® optical coherence tomography scanner in infrared mode. The video was taken both in photopic and scotopic conditions, recording the resultant transition of the pupil and eyelids. The pupil diameter (PD), upper eyelid margin-to-reflex distance (MRD1), lower eyelid margin-to-reflex distance (MRD2), and vertical palpebral fissure height (PFH) were measured. RESULTS: Thirty-three healthy volunteers (19 women, 57.6%) with a median age of 40 years (range 30-58) were included. The mean PD under photopic conditions increased significantly under scotopic conditions, from 3483 ± 521 µm to 6135 ± 703 µm, respectively (P < 0.0001). An increase in MRD1 was observed following transition from light to dark, with a mean change of 348 ± 311 µm (P < 0.0001). There was no significant change in MRD2. CONCLUSIONS: Upper eyelid retraction occurs after transition from photopic to scotopic conditions. This movement suggests the existence of an "eyelid-light reflex" involving Müller's muscle that adjusts the position of the eyelids as the pupil dilates under scotopic conditions.
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Párpados/fisiología , Músculo Liso/inervación , Sistema Nervioso Simpático/fisiología , Adulto , Visión de Colores/fisiología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Visión Nocturna/fisiología , Refracción Ocular/fisiologíaRESUMEN
PURPOSE: Despite advances in glaucoma treatment options, patient adherence and compliance remain very low. The EyePhone© App is a free non-commercial reminder application designed specifically for the needs of glaucoma patients. In this study, we evaluated its usefulness in improving adherence to medical treatment among glaucoma patients. METHODS: This is a prospective multicenter interventional study. Glaucoma patients were recruited from a tertiary center and a large community glaucoma service center. After a short explanation, the EyePhone© App was installed on their smartphone device, and the notifications for the current medical treatment were entered. After enrollment and at 1-month follow-up, subjects completed the Morisky Medication Adherence Scale (MMAS-8) and the Quality of Life and Glaucoma 17-item (GlauQOL-17) questionnaires for evaluation of adherence and QOL, respectively. RESULTS: In the study, 133 patients (71 men and 62 women) aged 62±15.5 years and using 2.0±0.9 IOP-lowering drugs participated. The proportion of highly adherent subjects improved from 29.3% (39/133) at baseline to 42.1% (56/133) at follow-up (P < 0.001), and the proportion of poorly adherent subjects decreased from 29.3 (39/133) to 20.3% (27/133) at follow-up (P = 0.012). QOL also improved, as evidenced by a significant increase in the GlauQOL-17 score (P < 0.05). In a subgroup of patients for whom IOP measurements were available, IOP reduced by 0.92 mmHg (P = 0.069). CONCLUSIONS: Significant improvements in glaucoma adherence and QOL were achieved among poorly adherent glaucoma patients after 1 month of using the EyePhone© App.
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Glaucoma , Aplicaciones Móviles , Antihipertensivos/uso terapéutico , Femenino , Glaucoma/tratamiento farmacológico , Humanos , Presión Intraocular , Masculino , Cumplimiento de la Medicación , Estudios Prospectivos , Calidad de VidaRESUMEN
PURPOSE: To define injection index (II) and assess its impact on visual acuity (VA) in pigment epithelial detachment from age-related macular degeneration over 5 years. METHODS: Injection index is defined as the mean anti-vascular endothelial growth factor injections per year from presentation. A retrospective study of 256 eyes in 213 patients was performed. Patients were stratified by II (high: ≥9, low: <9). RESULTS: Baseline characteristics showed no differences across II groups. Mean (range) follow-up, in years, was 5.02 (1.04-12.74) for all patients. Mean logMAR VA (Snellen VA) were 0.60 (20/80) and 0.56 (20/73) at baseline, 0.52 (20/66) and 0.59 (20/78) at Year 1, 0.45 (20/56) and 0.67 (20/94) at Year 2, 0.38 (20/48) and 0.66 (20/91) at Year 3, 0.41 (20/51) and 0.89 (20/155) at Year 4, and 0.35 (20/45) and 0.79 (20/123) at Year 5 for the high and low II groups, respectively. Linear regression analysis showed a gain of 0.5 approxETDRS letters with each additional injection per year. CONCLUSION: Increased II was associated with better mean VA, suggesting that long-term continuous vascular endothelial growth factor suppression may improve VA in eyes thought to carry poor prognoses.
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Bevacizumab/administración & dosificación , Degeneración Macular/complicaciones , Ranibizumab/administración & dosificación , Desprendimiento de Retina/tratamiento farmacológico , Epitelio Pigmentado de la Retina/diagnóstico por imagen , Agudeza Visual , Anciano , Inhibidores de la Angiogénesis/administración & dosificación , Femenino , Angiografía con Fluoresceína/métodos , Estudios de Seguimiento , Fondo de Ojo , Humanos , Inyecciones Intravítreas , Degeneración Macular/diagnóstico , Degeneración Macular/tratamiento farmacológico , Masculino , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiología , Estudios Retrospectivos , Factores de Tiempo , Tomografía de Coherencia Óptica/métodos , Resultado del Tratamiento , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidoresRESUMEN
BACKGROUND: Glaucoma is a leading cause of global blindness, especially preventable blindness. The increased prevalence of glaucoma has led to a growing demand for newer, safer, more rapid, and simpler treatments for the reduction of intraocular pressure (IOP). In this study, we evaluated the safety and feasibility of performing filtration glaucoma surgery with an Ab-Interno Er:YAG laser in rabbits. METHODS: Nine New Zealand White rabbits age 16 weeks were studied. After subconjunctival injection of mitomycin C (MMC), a novel Ab-Interno Er:YAG laser probe was inserted into the anterior chamber (AC) through a clear corneal 1 mm paracentesis and directed at the trabecular meshwork adjacent to the MMC injection area. A pulsed laser beam was applied to create a patent sclerostomy connecting the AC to the subconjuctival space, resulting in a filtering bleb. The laser system used was the Er:YAG laser system - LAS25-FCU, (Pantec Biosolutions AG, Liechtenstein). Parameters used: Wave lengh: 2940 nm, Pulse length: 100-400 µsec,frequency: 250 Hz. Average laser power in accordance to the fiber tip diameter: 0.85 W(range 0.8-0.92 W). Complete ocular exams, including IOP measurements, were performed on 1, 7, 14, and 23 days postoperatively. Three rabbits were sacrificed on days 1, 14, and 23, and histological examinations were performed on all nine eyes. RESULTS: All procedures resulted in a functional medium-large superior bleb without significant complications. The bleb was sustained in all rabbits by day 14 and in one of the three rabbits that reached the last follow-up at 23 days. No cases of postoperative hypotony were observed. There was a transient significant reduction in mean IOP on postoperative days 5 and 7 (P = 0.028). Histopathological analysis revealed a patent full-thickness scleral tunnel with only a minor degree of surrounding coagulation necrosis. CONCLUSIONS: The Ab-Interno laser sclerostomy procedure is potentially safe and effective based on initial experience in an in-vivo rabbit animal model.
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Terapia por Láser , Láseres de Estado Sólido , Esclerostomía , Animales , Humanos , Presión Intraocular , Láseres de Estado Sólido/uso terapéutico , Conejos , Esclerótica , Malla Trabecular/cirugíaRESUMEN
PURPOSE: Current practice in retinoblastoma (Rb) has transformed this malignancy into a curable disease. More attention should therefore be given to quality of life considerations, including measures related to examinations under anesthesia (EUAs). We aimed to investigate EUA measures in bilateral Rb patients and compare the findings to EUAs in unilateral Rb. METHODS: A retrospective analysis of bilateral Rb patients that presented to the London Rb service from 2006 to 2013, were treated and had long-term follow-up. RESULTS: A total of 62 Rb patients, 15 (24.2%) of which had International Intraocular Retinoblastoma Classification (IIRC) group A/B/no Rb at presentation, 26 (41.9%) C/D, and 21 (33.9%) were E in at least one eye. The mean number of EUAs was 35.8 ± 21.5, mean time from first to last EUA was 50.6 ± 19.9 months, and mean EUA frequency was 0.715 ± 0.293 EUAs/month. IIRC group was found not to correlate with any of the EUA measures. Age at presentation inversely correlated with time interval from first to last EUA and to EUA frequency (p ≤ 0.029). Rb family history correlated with the latter measure (p = 0.005) and intraophthalmic artery chemotherapy and brachytherapy correlated with all EUA measures (p ≤ 0.029). Mean follow-up time was 80.1 ± 24.3 months. When compared with a previously reported cohort of unilateral Rb, the present group underwent 3× more EUAs (p < 0.001) over nearly double the time (p < 0.001). CONCLUSIONS: Families should be counselled on anticipated EUA burden associated with bilateral Rb. In this respect, age at presentation and family history were found to have a predictive role, whereas IIRC group did not.
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Anestesia/métodos , Técnicas de Diagnóstico Oftalmológico/estadística & datos numéricos , Calidad de Vida , Neoplasias de la Retina/diagnóstico , Retinoblastoma/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Retrospectivos , Factores de TiempoRESUMEN
Bisphosphonates are widely used for treating osteoporosis, a common disorder in which bone strength is reduced, increasing the risk for fractures. Rarely, bisphosphonates can paradoxically lead to atypical fractures occurring spontaneously or with trivial trauma. Recently, a novel missense mutation (D188Y) in the GGPS1 gene, encoding for geranylgeranyl diphosphate synthase (GGPPS), was associated with bisphosphonate-induced atypical fractures. However, the molecular basis for GGPPS involvement in this devastating condition remains elusive. Here, we show that while maintaining an overall unperturbed global enzyme structure, the D188Y mutation leads to â¼4-fold catalytic activity decrease. Furthermore, GGPPS-D188Y is unable to support cross-species complementation, highlighting the functional significance of the reduced catalytic activity observed in vitro. We next determined the crystal structure of apo-GGPPS-D188Y, revealing that while Y188 does not alter the protein fold, its bulky side chain sterically interferes with substrate binding. In agreement, we show that GGPPS-D188Y exhibits â¼3-fold reduction in the binding affinity of zoledronate, a commonly used bisphosphonate. However, inhibition of the mutated enzyme by zoledronate, in pharmacologically relevant concentrations, is maintained. Finally, we determined the crystal structure of zoledronate-bound GGPPS-D188Y, revealing large ligand-induced binding pocket rearrangements, revising the previous model for GGPPS-bisphosphonate interactions. In conclusion, we propose that among heterozygotes residual GGPPS activity is sufficient to support physiologic cellular function, concealing any pathologic phenotype. However, under bisphosphonate treatment, GGPPS activity is reduced below a crucial threshold for osteoclast function, leading to impaired bone remodeling and increased susceptibility to atypical fractures.
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Difosfonatos/efectos adversos , Farnesiltransferasa/genética , Fracturas Óseas/inducido químicamente , Fracturas Óseas/genética , Cristalografía por Rayos X/métodos , Dimetilaliltranstransferasa/genética , Heterocigoto , Humanos , Modelos Moleculares , Mutación Missense/genética , Ácido Zoledrónico/farmacologíaRESUMEN
Backgrond: Intracorneal ring segments (ICRSs) are utilized to correct refractive changes impacting visual acuity, commonly implanted via femtosecond laser but can also inserted manually. Corneal deposits alongside the ICRS channels are seen commonly. Methods: This study explores the histological characteristics of corneal deposits following manual ICRS implantation, comparing them to previously published articles describing femtosecond laser-assisted cases. Results: This is a retrospective analysis of three cases involving manual ICRS implantation, accumulation of whitish deposits and later explanation of the corneas due to penetrating keratoplasty (PKP). Patient demographics, ocular history, and surgical details were collected. Histological analysis employed Hematoxylin and Eosin (H&E) and Masson's trichrome staining. Whitish deposits along ICRS tracts were observed in all cases, with minimal fibroblastic transformation of keratocytes adjacent to the segments. Comparing these cases of manual to femtosecond laser-assisted ICRS implantation, in most cases, similar deposits were identified, indicating the deposits' association with the stromal tissue reaction to the ring segment and not to the surgical technique. Conclusions: This study contributes insights into the histopathology of manually implanted ICRS, emphasizing the shared nature of deposits in both insertion methods. The findings highlight the link between deposits and the stromal tissue reaction to the ring segment, irrespective of the insertion technique.
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Certain ocular conditions result from the non-physiological presence of intraocular particles, leading to visual impairment and potential long-term damage. This happens when the normally clear aqueous humor becomes less transparent, thus blocking the visual axis and by intraocular pressure elevation due to blockage of the trabecular meshwork, as seen in secondary open-angle glaucoma (SOAG). Some of these "particle-related pathologies" acquire ocular conditions like pigment dispersion syndrome, pseodoexfoliation and uveitis. Others are trauma-related, such as blood cell accumulation in hyphema. While medical and surgical treatments exist for SOAG, there is a notable absence of effective preventive measures. Consequently, the prevailing clinical approach predominantly adopts a "wait and see" strategy, wherein the focus lies on managing secondary complications and offers no treatment options for particulate matter disposal. We developed a new technique utilizing standing acoustic waves to trap and direct intraocular particles. By employing acoustic trapping at nodal regions and controlled movement of the acoustic transducer, we successfully directed these particles to specific locations within the angle. Here, we demonstrate control and movement of polystyrene (PS) particles to specific locations within an in vitro eye model, as well as blood cells in porcine eyes (ex vivo). The removal of particles from certain areas can facilitate the outflow of aqueous humor (AH) and help maintain optimal intraocular pressure (IOP) levels, resulting in a non-invasive tool for preventing secondary glaucoma. Furthermore, by controlling the location of trapped particles we can hasten the clearance of the AH and improve visual acuity and quality more effectively. This study represents a significant step towards the practical application of our technique in clinical use.
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PURPOSE: To assess a novel Virtual Reality (VR) tool designed to enhance understanding of the nasal anatomy in patients eligible for DCR surgery. METHODS: Preoperative Computed Tomography (CT) scans of the orbit were obtained and loaded as DICOM (Digital Imaging and Communications in Medicine) files onto the D2P software (3D Systems Inc. Littleton, CO) for tissue segmentation and 3D model preparation. Segmentation was performed on several anatomical structures, including the skull, lacrimal sac, nasal septum, inferior and middle turbinate. The resulting 3D model was visualized using a VR headset. After completing the segmentation procedure, ten cases were evaluated by a panel of six surgeons, including both senior and resident physicians from ENT and oculoplastic specialties. RESULTS: The dataset under examination comprised images from 10 preoperative CT scans of the orbits of patients eligible for Endo-DCR. When evaluating the CT using the VR tool, in 73.3% of the cases ENT surgeons were right about the side of pathology, while only 43.3% ophthalmologists were right (chi-square, p = .018). In 72.8% of the cases ENT surgeons were evaluated right that there is a septum deviation, while only in 47.2% of the cases the ophthalmologists were right (chi-square, p = .094).When evaluating the CT using the VR tool, in 60% of the cases consultants were right about the pathology, while 57.7% of the residents were right (chi-square, p = .853). In 81.7% of the cases consultants were evaluated right that there is a septum deviation, while only in 58.3% of the cases the ophthalmologists were right (chi-square, p = .198). DISCUSSION: ENT surgeons, as well as consultants, interpreted the CT better than the ophthalmologists and residents. Surprisingly, the VR system did not help them to interpret the CT better. Further, more extensive studies should be done to build a VR system that assists in the correct interpretation of the preoperative CT before DCR surgery as well as during DCR surgery.
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PRCIS: The prevalence of glaucoma in the adult population included in this study was 2.3%. Normal values of routine eye examinations are provided including age and sex variations. PURPOSE: The purpose of this study was to analyze the prevalence of glaucoma in a very large database. METHODS: Retrospective analysis of medical records of patients examined at the Medical Survey Institute of a tertiary care university referral center between 2001 and 2020. A natural language process (NLP) algorithm identified patients with a diagnosis of glaucoma. The main outcome measures included the prevalence and age distribution of glaucoma. The secondary outcome measures included the prevalence and distribution of visual acuity (VA), intraocular pressure (IOP), and cup-to-disc ratio (CDR). RESULTS: Data were derived from 184,589 visits of 36,762 patients (mean age: 52 y, 68% males). The NLP model was highly sensitive in identifying glaucoma, achieving an accuracy of 94.98% (area under the curve=93.85%), and 633 of 27,517 patients (2.3%) were diagnosed as having glaucoma with increasing prevalence in older age. The mean VA was 20/21, IOP 14.4±2.84 mm Hg, and CDR 0.28±0.16, higher in males. The VA decreased with age, while the IOP and CDR increased with age. CONCLUSIONS: The prevalence of glaucoma in the adult population included in this study was 2.3%. Normal values of routine eye examinations are provided including age and sex variations. We proved the validity and accuracy of the NLP model in identifying glaucoma.
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Glaucoma , Presión Intraocular , Masculino , Adulto , Humanos , Persona de Mediana Edad , Femenino , Estudios Retrospectivos , Prevalencia , Israel/epidemiología , Glaucoma/diagnóstico , Glaucoma/epidemiologíaRESUMEN
Due to the COVID-19 pandemic, the center for disease control and prevention (CDC) recommends face-mask wearing for all people above the age of two years. The wearing of face masks creates a unique airflow towards the ocular surface which may influence the normal physiological conditions of the ocular and periocular surface. Healthy subjects with no ocular history were enrolled in this cross-sectional study. The Therm-App thermal imaging camera was used for ocular surface temperature (OST) measurements during inspirium and expirium. Five regions of interest (ROIs) were used to measure OST: medial conjunctive, cornea, lateral conjunctive, upper eyelid and entire orbital area. Additional measurements in the same locations were made with the upper margin of the mask taped with micropore surgical tape. Thirty-one patients were included in this study. OST during expirium was significantly higher compared to the temperature during inspirium in all locations measured (p < 0.001, paired samples t-test). The temperature of the upper eyelid was higher by more than 0.5 °C during expirium. Taping the mask's upper edges to the skin resulted in non-significant temperature changes in inspirium vs. expirium. In conclusion, wearing a face mask creates air flow towards the periocular and ocular surface, which changes the OST mostly on the eyelids.
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INTRODUCTION: Müller muscle conjunctival resection (MMCR) may be more likely to lead to under- rather than over-correction. The choice of revision surgery is not clearly defined. METHODS: MMCR patients were included if the post-operated eyelid(s) demonstrated margin reflex distance-1 (MRD1) less than 3.5 mm, or if MRD1 asymmetry was greater than 0.5 mm, and if they underwent subsequent revision surgery. MRD1 was the primary outcome measure and complications were secondary outcome measures. Two groups were defined: patients who underwent MMCR then repeat MMCR (M-M) and those who underwent MMCR followed by external levator resection (ELR) surgery (M-L). RESULTS: 18 eyelids (16 patients) were included, 12 in M-M and 6 in M-L. Mean (SD) preoperative MRD1 was 1.84 mm (0.97), range -0.41 to 3.39 mm. There was no difference (p = 0.70) in preoperative MRD1 between M-M and M-L. In the M-M group, mean (SD) MRD1 was 1.77 mm (1.12) preoperatively, 2.35 mm (0.66) after the first surgery, and 3.44 mm (0.31) after revision. Mean MRD1 was significantly higher after revision, compared to preoperatively (p < 0.05) and after first surgery (p < 0.05). In the M-L group (n = 6), mean (SD) MRD1 was 1.98 mm (0.90) preoperatively, 1.99 mm (0.56) after the first surgery and 3.44 mm (1.24) after revision. The difference between preoperative and post revision surgery MRD1 was significant (p < 0.05). CONCLUSIONS: For patients with insufficient elevation of MRD1 or with asymmetry after MMCR, revision by MMCR or by ELR are both reasonable options.
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Blefaroplastia , Blefaroptosis , Blefaroptosis/cirugía , Humanos , Músculos Oculomotores/cirugía , Reoperación , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
PURPOSE: Accumulating evidence suggests that neuroinflammation and immune response are part of the sequence of pathological events leading to optic nerve damage in glaucoma. Changes in tissue temperature due to inflammation can be measured by thermographic imaging. We investigated the ocular surface temperature (OST) profile of glaucomatous eyes to better understand the pathophysiology of these conditions. METHODS: Subjects diagnosed with glaucoma (primary open angle glaucoma [POAG] or pseudo exfoliation glaucoma [PXFG]) treated at the Sam Rothberg Glaucoma Center (11/2019-11/2020.) were recruited. Healthy subjects with no ocular disease served as controls. The Therm-App thermal imaging camera was used for OST acquisition. Room and body temperatures were recorded, and the mean temperatures of the medial cantus, lateral cantus, and cornea were calculated with image processing software. RESULTS: Thermographic images were obtained from 52 subjects (52 eyes: 25 POAG and 27 PXFG) and 66 controls (66 eyes). Eyes with glaucoma had a significantly higher OST compared to controls (mean 0.9 ± 0.3°C, p < 0.005). The difference between the two groups remained significant after adjustment for age, sex, intraocular pressure (IOP) and room and body temperatures. Lens status and topical IOP-lowering medication did not significantly affect OST. A subgroup analysis revealed that the OST was higher among eyes with POAG compared to eyes with PXFG, but not significantly. CONCLUSIONS: Differences in the OST between glaucomatous and normal eyes strengthens current thinking that inflammation affects the pathophysiology of glaucoma. Longitudinal studies are warranted to establish the prognostic value of thermographic evaluations in these patients.