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Purpose: To investigate the deficits in contrast sensitivity in patients with Fuchs uveitis syndrome (FUS) and to explore the potential relationship between contrast sensitivity and ocular structure. Methods: In this prospective study, 25 patients with FUS and 30 healthy volunteers were recruited. Eyes were divided into three groups: FUS-affected eyes (AE), fellow eyes (FE), and healthy eyes. The contrast sensitivity function (CSF) of all participants was evaluated using the quick CSF (qCSF) method. Fundus photographs were collected for the analysis of refractive media, and vascular density (VD) was assessed using optical coherence tomography angiography (OCTA). Data were analyzed and compared using the generalized estimating equation (GEE). Results: The CSF of AE was significantly lower than that of FE and controls, while no significant difference was observed between FE and controls. Contrast sensitivity was negatively correlated with the grade of haze. No significant correlation was found between visual function and VDs in FUS eyes. Conclusions: We found that the CSF of FUS-affected eyes was significantly reduced, and the visual impairment was predominantly caused by the refractive media turbidity.
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PURPOSE: To evaluate the microvasculature alterations in convalescent Vogt-Koyanagi-Harada (VKH) disease using optical coherence tomography angiography (OCTA), and to explore the association between microvasculature and the presence of sunset glow fundus (SGF). METHODS: A cross-sectional study was conducted with 28 VKH patients at convalescent stage and 25 healthy individuals. Both eyes of each participant were enrolled. The VKH patients were classified into two subgroups based on the existence of SGF. OCTA images (3 × 3 mm) were assessed for the data of superficial capillaris plexus (SCP), deep capillaris plexus (DCP), choriocapillaris, and foveal avascular zone (FAZ). RESULTS: Compared with healthy control eyes and eyes without SGF, the vessel densities of the SCP and DCP decreased significantly in most regions of eyes with SGF (p < 0.0167). No significant difference of vascular perfusion was found between eyes without SGF and control eyes (p > 0.05). VKH patients with SGF had slightly increased FAZ area (p = 0.067) and decreased choroid flow area (p = 0.427) than those in the control group. CONCLUSION: Convalescent VKH patients with SGF showed decreased macular capillary perfusion. OCTA could serve as a sensitive tool to assess the microvasculature alterations of VKH disease.
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Tomografía de Coherencia Óptica , Síndrome Uveomeningoencefálico , Estudios Transversales , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Microvasos/diagnóstico por imagen , Vasos Retinianos/diagnóstico por imagenRESUMEN
Purpose: To characterize the quality of life and mental health status of patients with uveitis and investigate predictors of psychological problems.Methods: A total of 245 patients and 105 controls were enrolled in this cross-sectional study. Quality of life, psychological status, socio-demographic and clinical data were obtained from questionnaires and medical records. Multivariate regression analyses and Receiver Operating Characteristic (ROC) were applied to obtain the model predicting psychological problems of patients.Results: Of 245 patients, 16.7% and 26.5% (P< .0001) screened positive for anxiety and depression, respectively. The model predicting anxiety was comprised of low annual household income and poor self-reported visual function (P= .029,P< .0001, respectively), with an AUC of ROC of 0.744. The model predicting depression was comprised of poor self-reported visual function and ocular complications (P< .0001, P= .012, respectively), with an AUC of 0.78.Conclusions: Economic hardship, ocular complications, and poor self-reported visual function are predictors of mental problems in patients with uveitis.
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Oftalmopatías/diagnóstico , Estrés Financiero/diagnóstico , Trastornos Mentales/diagnóstico , Uveítis/diagnóstico , Baja Visión/diagnóstico , Adulto , Estudios Transversales , Femenino , Estado de Salud , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Calidad de Vida , Curva ROC , Encuestas y CuestionariosRESUMEN
PURPOSE: To investigate the association between serum amyloid A (SAA) protein and the clinical features of acute anterior uveitis (AAU), and to evaluate the disease activity and treatment effect in relation to SAA levels. METHODS: AAU patients and healthy individuals were recruited from October 2016 to August 2017 at the Department of Uveitis, in the Eye Hospital of Wenzhou Medical University. Related demographic, clinical characteristics, and therapeutic data were analyzed. RESULTS: One hundred and eight AAU patients and 18 healthy controls were included in this study. Serum SAA levels in AAU patients were significantly higher than those of healthy controls (p all < 0.0001). Significantly higher SAA levels were found in AS+AAU patients than those in AS-AAU patients (p < 0.05). SAA levels were also significantly higher in patients with HLA-B27+AAU compared with those with HLA-B27-AAU (p < 0.05). Furthermore, in each of the AAU subgroups, higher SAA levels were observed in the active state than those in the inactive state (p all < 0.05). In addition, SAA levels were positively correlated to anterior chamber cell counts (r = 0.492, p < 0.0001). ROC curve analysis revealed that SAA had an AUC value of 0.727 for detecting active inflammation (Youden's index = 0.38). SAA decreased with effective treatments (p = 0.0002). CONCLUSION: Serum levels of SAA were elevated in AAU patients. The increased levels of SAA were correlated with AS and HLA-B27 status. SAA levels were also positively correlated to disease activity and decreased with effective treatments. These findings suggest that SAA is associated with AAU, with a potential role in monitoring inflammatory processes and assessing the efficacy of therapy.
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Uveítis Anterior , Uveítis , Enfermedad Aguda , Antígeno HLA-B27 , Humanos , Proteína Amiloide A Sérica , Uveítis Anterior/tratamiento farmacológicoRESUMEN
PURPOSE: To evaluate the posterior corneal surface differences between non-laser in situ keratomileusis (LASIK) and 10-year post-LASIK myopic eyes. METHODS: The study included 130 eyes from 65 patients, who were treated with myopic LASIK 10 years ago. In addition, 130 eyes from 65 unoperated myopic patients of matching present age and preoperative refraction were divided into control group. Data on the posterior corneal surface and anterior chamber were obtained from Pentacam software and compared between the groups. Postoperative visual acuity (VA) and refractive error were also analysed. RESULTS: The mean preoperative spherical equivalent (SE) was -6.99 ± 1.78 dioptre (D) in the LASIK group. Ten years after surgery, the mean SE was -0.45 ± 1.22 D, the efficacy index was 0.98, and the safety index was 1.01. The posterior corneal elevations of the LASIK group at 2 mm corneal diameter were significantly lower than those of the control group. However, posterior corneal elevations at 6 mm corneal diameter were higher in the LASIK group than the controls (p < 0.01 for all). The mean Q-values of posterior corneal surface demonstrated significant positive direction compared to that of control eyes at 6 and 7 mm corneal diameters (p < 0.05 for both). At the thinnest point of the cornea, the anterior chamber depths were shallower in the LASIK group than in controls. Meanwhile, the anterior chamber volumes (ACV) were smaller in the LASIK group than in the control group. CONCLUSION: Our results demonstrated that the posterior corneal surface tends to show signs of central flattening and peripheral steepening 10 years after myopic LASIK surgery compared to that of non-operated myopic eyes.
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Cámara Anterior/fisiopatología , Endotelio Corneal/fisiopatología , Queratomileusis por Láser In Situ/métodos , Láseres de Excímeros/uso terapéutico , Miopía/cirugía , Adulto , Sustancia Propia/cirugía , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Miopía/fisiopatología , Refracción Ocular/fisiología , Agudeza Visual/fisiologíaRESUMEN
PURPOSE: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. METHODS: A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors. RESULTS: A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status. CONCLUSIONS: This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.
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Factor I de Complemento/genética , Marcadores Genéticos/genética , Polimorfismo de Nucleótido Simple , Uveítis Anterior/genética , Enfermedad Aguda , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Técnicas de Genotipaje , Antígeno HLA-B27/genética , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la PolimerasaRESUMEN
Ocular coloboma is a common eye malformation arising from incomplete closure of the human optic fissure during development. Multiple genetic mutations contribute to the disease process, showing extensive genetic heterogeneity and complexity of coloboma spectrum diseases. In this study, we aimed to unravel the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis. The subjects were recruited and underwent specialized ophthalmologic clinical examination. A combination of whole exome sequencing (WES), homozygosity mapping, and comprehensive variant analyses was performed to uncover the causative mutation. Only one homozygous mutation (c.113 T > C, p.I38T) in RAX gene survived our strict variant filtering process, consistent with an autosomal recessive inheritance pattern. This mutation segregated perfectly in the family and is located in a highly conserved functional domain. Crystal structure modeling indicated that I38T affected the protein structure. We describe a patient from a consanguineous Chinese family with unusual coloboma, proven to harbor a novel RAX mutation (c.113 T > C, p.I38T, homozygous), expanding the phenotypic variability of ocular coloboma and RAX mutations.
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Coloboma/diagnóstico , Coloboma/genética , Consanguinidad , Proteínas del Ojo/genética , Proteínas de Homeodominio/genética , Mutación , Retinosquisis/diagnóstico , Retinosquisis/genética , Factores de Transcripción/genética , Secuencia de Aminoácidos , Mapeo Cromosómico , Proteínas del Ojo/química , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Proteínas de Homeodominio/química , Homocigoto , Humanos , Masculino , Modelos Moleculares , Linaje , Fenotipo , Relación Estructura-Actividad , Factores de Transcripción/química , Secuenciación Completa del GenomaRESUMEN
AIM: To describe the incidence of Posner-Schlossman syndrome (PSS) in Lucheng District, Wenzhou, China, over a 10-year period. METHODS: We reviewed retrospectively the medical records of all inpatient and outpatient patients diagnosed with PSS during the years 2005-2014 in the Eye Hospital of Wenzhou Medical University. The keywords of 'glaucomatocyclitic crisis', 'Posner-Schlossman syndrome' and 'PSS' were used for the retrieval. Only patients with registered residing address in Lucheng District where the hospital located were finally selected. The cumulative incidence and annual incidence of PSS were calculated based on the sum of household registered population and temporary resident population in Lucheng District. RESULTS: A total of 576 patients with PSS (339 men and 237 women) met the retrieval criteria. The mean age of these subjects at the first clinic visit was 40±15 years. Intraocular pressure (IOP) of the initial record was 31.91±15.37 mm Hg. The 10-year cumulative incidence of PSS in Lucheng District was 39.53 per 100 000 population, whereas the mean annual incidence of PSS in this area was 3.91 per 100 000 population. The majority of these patients were aged 20-59 years (83.9%). Men showed a significantly higher cumulative incidence of PSS than women (p=0.010). Higher rate of newly onset cases was found in spring (31%) than in other seasons (p=0.006). CONCLUSIONS: Our results suggest a relatively high incidence of PSS in Wenzhou, a southeastern city in China. Young, male adults are prone to be affected in spring. However, the aetiology and other risk factors are still waited to be clarified.
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Glaucoma de Ángulo Abierto/epidemiología , Presión Intraocular , Iridociclitis/epidemiología , Uveítis Intermedia/epidemiología , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Niño , China/epidemiología , Femenino , Glaucoma de Ángulo Abierto/complicaciones , Glaucoma de Ángulo Abierto/fisiopatología , Humanos , Incidencia , Iridociclitis/complicaciones , Iridociclitis/fisiopatología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Distribución por Sexo , Síndrome , Tonometría Ocular , Uveítis Intermedia/complicaciones , Uveítis Intermedia/fisiopatología , Adulto JovenRESUMEN
BACKGROUND: Complement factor H (CFH) related proteins (CFHRs) play important roles in complement activation pathways, whereas previous studies have only shown that CFH can affect the development of uveitis. In the present study, we investigated the potential associations between one of single-nucleotide polymorphisms in the CFHR2 gene with acute anterior uveitis (AAU). METHODS: A total of 571 subjects, 283 patients diagnosed with AAU and 288 healthy adult controls, were recruited for this case-control study. CFHR2-rs2986127 was detected using Sequenom MassARRAY technology (Sequenom, San Diego, CA, USA). RESULTS: The stratified analyses for AAU patients with ankylosing spondylitis (AS) revealed a reduced frequency of the A allele in CFHR2-rs2986127 compared to controls (p = 0.033, odds ratio = 0.563, 95% confidence interval = 330-0.960). Further stratified analyses revealed a similar significantly reduced frequency in male AAU patients with AS compared to male controls (p = 0.036, odds ratio = 0.514, 95% confidence interval = 0.274-0.965) and in AAU patients without posterior segment involvement compared to controls (p = 0.048). CONCLUSIONS: The present study reveals an association between CFHR2-rs2986127 and AAU diagnosis, especially with respect to gender, AS status and other clinical signs, such as posterior segment involvement. Our results may further enrich the growing understanding of uveitis genetics, and raise the clinical diagnostic accuracy of this disease. Copyright © 2016 John Wiley & Sons, Ltd.
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Proteínas Inactivadoras del Complemento C3b/genética , Polimorfismo de Nucleótido Simple , Uveítis Anterior/genética , Enfermedad Aguda , Adolescente , Adulto , Anciano , Alelos , Pueblo Asiatico/genética , Estudios de Casos y Controles , Niño , China , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Espondilitis Anquilosante/complicaciones , Espondilitis Anquilosante/etnología , Uveítis Anterior/complicaciones , Uveítis Anterior/etnología , Adulto JovenRESUMEN
PURPOSE: Complement factor I (CFI) plays an important role in complement activation pathways and is known to affect the development of uveitis. The present study was performed to investigate the existence of an association between CFI genetic polymorphisms and Vogt-Koyanagi-Harada (VKH) syndrome. METHODS: A total of 100 patients diagnosed with VKH syndrome and 300 healthy controls were recruited for the study. Two milliliters of peripheral blood were collected in a sterile anticoagulative tube. CFI-rs7356506 polymorphisms were genotyped using Sequenom MassARRAY technology. Allele and genotype frequencies were compared between patients and controls using a χ(2) test. The analyses were stratified for recurrent status, complicated cataract status, and steroid-sensitive status. RESULTS: No significant association was found between CFI-rs7356506 polymorphisms and VKH syndrome. However, patients with recurrent VKH syndrome had lower frequencies of the G allele and GG homozygosity in CFI-rs7356506 when compared to the controls (p=0.016, odds ratio [OR]=0.429, 95% confidence interval [CI]=0.212-0.871; p=0.014, OR=0.364, 95% CI=0.158-0.837, respectively). Furthermore, there were significant decreases in the frequencies of the G allele and GG homozygosity in CFI-rs7356506 in patients with VKH syndrome with complicated cataract compared to the controls (p<0.001, OR=0.357, 95% CI=0.197-0.648; p<0.001, OR=0.273, 95% CI=0.135-0.551, respectively). Nevertheless, no significant association with patients with VKH syndrome in steroid-sensitive statuses was detected for CFI-rs7356506 polymorphisms. CONCLUSIONS: Our results indicate that CFI polymorphisms are not significantly associated with VKH syndrome; nevertheless, we identified a trend for the association of CFI-7356506 with VKH syndrome that depends on the recurrent status and the complicated cataract status but not on the steroid-sensitive status.