Degeneración macular exudativa asociada a la edad. Riesgo inducido por facoemulsificación e impacto en los genes e impacto de los genes "CFH" y "ARMS2" sobre la incidencia, desarrrollo y respuesta al tratamiento con ranibizumab intravítreo

Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Oftalmología, leída el 16/04/2013Depto. de Inmunología, Oftalmología y ORLFac. de MedicinaTRUEunpu

Systemic effects of repeated intraocular dexamethasone Intravitreal implant in diabetic patients: a retrospective study

Introduction: The objective of this study is to evaluate the influence of repeated intraocular dexamethasone implant (Ozurdex) injections on metabolic control in type 2 diabetic patients. Methods: Retrospective study of 165 type 2 diabetic patients starting Ozurdex treatment who received no less than three consecutive injections. Glycated hemoglobin (HbA1c), serum creatinine, total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglycerides (TGs) were evaluated during 15 months of follow-up after Ozurdex treatment onset. Results: Fifty-seven patients met inclusion criteria. Mean baseline values for HbA1c, creatinine, total cholesterol, HDL cholesterol, and TGs before treatment (7.1%, 1.3, 176.7, 51.1, and 125.6 mg/ dl, respectively) were similar to mean values after Ozurdex onset (Wilcoxon test p values were 0.68, 0.41, 0.06, 0.87, and 0.33, respectively) and remained stable during the follow-up period. Mean LDL cholesterol levels increased slightly after Ozurdex treatment onset (90.1 vs 88.2 mg/ dl, p = 0.04) but after 15 months of follow-up they had returned to baseline values. Transient increase in LDL cholesterol was remarkable in the group of 24 bilaterally treated patients (96.8 vs 88.4 mg/dl, p = 0.03). A third of these patients increased their baseline LDL values by more than 20%. Even with continuous injections of Ozurdex, LDL cholesterol levels also declined back to baseline by month 15. Conclusion: Ozurdex injections had no influence on HbA1c or renal function. Lipid profile changes were mild and transient. However, a significant temporary increase has been found in LDL cholesterol levels in patients receiving simultaneous bilateral injections. Lipid levels should be monitored in patients starting with bilateral Ozurdex injections especially in those with recent history of acute myocardial infarction

Effect of COVID-19 lockdown in Spain on structural and functional outcomes of Neovascular AMD patients

This is a retrospective single-center study of patients with neovascular age-related macular degeneration whose follow-up was delayed due to COVID-19 pandemic with at least three months between visits in Madrid, Spain. The purpose of the study was to evaluate best corrected visual acuity (BCVA) changes and try to identify features in optical coherence tomography (OCT) that could be related to more profound visual loss. It included 270 eyes. The two last visits before lockdown were used for comparison with the visit after lockdown. BCVA changed from 60.2 ± 18.2 to 55.9 ± 20.5 ETDRS letters. 29% of the eyes lost more than 5 letters. OCT was active in 67% of eyes before lockdown and in 80.4% after lockdown. Multiple lineal analysis showed that patients whose OCT before lockdown presented with a combination of intra and subretinal fluid were more likely to suffer a greater visual loss (p = 0.002). These patients should be encouraged to not miss any visits in case a new lockdown is imposed

Creación de material audiovisual para el Campus Virtual y plataformas educativas en aras de que los estudiantes de grado, posgrado y profesionales de la visión dominen el análisis ocular con biomicroscopio

Edición y publicación de videos explicando los fundamentos y técnicas del biomicroscopio ocular con el análisis de la salud superficial del polo anterior ocular y las imágenes biomicroscópicas y fluoroscópicas para la correcta adaptación de lentes de contacto

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

Introduction: Inherited retinal dystrophies (IRDs) can be caused by variants in more than 280 genes. The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavimaculatus, cone–rod dystrophy (CRD), and pan-retinal CRD. Approximately 25% of the reported ABCA4 variants affect RNA splicing. In most cases, it is necessary to perform a functional assay to determine the effect of these variants.Methods: Whole genome sequencing (WGS) was performed in one Spanish proband with Stargardt disease. The putative pathogenicity of c.6480-35A>G on splicing was investigated both in silico and in vitro. The in silico approach was based on the deep-learning tool SpliceAI. For the in vitro approach we used a midigene splice assay in HEK293T cells, based on a previously established wild-type midigene (BA29) containing ABCA4 exons 46 to 48. Through the analysis of WGS data, we identified two candidate variants in ABCA4 in one proband: a previously described deletion, c.699_768+342del (p.(Gln234Phefs*5)), and a novel branchpoint variant, c.6480-35A>G. Segregation analysis confirmed that the variants were in trans. For the branchpoint variant, SpliceAI predicted an acceptor gain with a high score (0.47) at position c.6480-47. A midigene splice assay in HEK293T cells revealed the inclusion of the last 47 nucleotides of intron 47 creating a premature stop codon and allowed to categorize the variant as moderately severe. Subsequent analysis revealed the presence of this variant as a second allele besides c.1958G>A p.(Arg653His) in an additional Spanish proband in a large cohort of IRD cases.Conclusion: A splice-altering effect of the branchpoint variant, confirmed by the midigene splice assay, along with the identification of this variant in a second unrelated individual affected with STGD, provides sufficient evidence to classify the variant as likely pathogenic. In addition, this research highlights the importance of studying non-coding regions and performing functional assays to provide a conclusive molecular diagnosis

La ceguera de Rosalba Carriera. Una artista en la oscuridad

Sección Deptal. de Bioquímica y Biología Molecular (Biológicas)Fac. de Ciencias BiológicasTRUEpu

La ceguera de Rosalba Carriera. Una artista en la oscuridad

Zlostavljanje moţe biti fiziĉko, emocionalno i seksualno. Svaka vrsta zlostavljanja na djetetu ostavlja dugoroĉne posljedice štetne za njegov daljni razvoj. Razliĉite su karakteristike koje pokazuju djeca koja trpe zlostavljanje. Neke od karakteristika tipiĉne su za odreĊenu vrstu nasilja, ali većina znakova zlostavljanja pojavljuje se u svim vrstama nasilja. Prepoznavanje znakova zlostavljanja kod odgojitelja - ispitanika pokazali su da samo 30% odgojitelja prepoznaje znakove nasilja nad djecom u njihovim vrtićima. Većinom prepoznaju aktivne oblike poremećaja u ponašanju kao posljedice zlostavljanja, dok su pasivni oblici poremećaja u ponašanju kao pokazatelji kod ispitanika zanemarivi. Iskusniji i stariji odgojitelji više i lakše prepoznavaju znakove nasilja nad djecom, a seksualno nasilje je još uvijek najmanje prepoznato. Poznavanje karakteristika zlostavljane djece i njihovih zlostavljaĉa te svjesnost o štetnosti posljedica zlostavljanja mogu pomoći u prevenciji nasilja nad djecom.Abuse (or molestation) can be physical, emotional or sexual. All types of abuse leave long-term consequence on the child that is harmful for its further development. Children who are being molested show different characteristics. Some of those are typical for specific kind of violence, but most of them occur in all kinds of violence. Kindergarten teacher’s recognition of signs of abuse - the respondents showed that only 30% of kindergarten teachers recognize signs of violence against children in their kindergartens. Mostly, they recognize active forms of behaviour disorders as a result of abuse, whilst passive forms of behaviour disorders are negligible as indicators to respondents. Experienced and senior kindergarten teachers are more often and easier recognizing signs of child molestation, and sexual violence is still least recognized. Knowledge about characteristics of abused children and their molesters, as well as the awareness of the damaging effects the abuse, can help in prevention of violence against children

Effect of COVID-19 Lockdown in Spain on Structural and Functional Outcomes of Neovascular AMD Patients

This is a retrospective single-center study of patients with neovascular age-related macular degeneration whose follow-up was delayed due to COVID-19 pandemic with at least three months between visits in Madrid, Spain. The purpose of the study was to evaluate best corrected visual acuity (BCVA) changes and try to identify features in optical coherence tomography (OCT) that could be related to more profound visual loss. It included 270 eyes. The two last visits before lockdown were used for comparison with the visit after lockdown. BCVA changed from 60.2 ± 18.2 to 55.9 ± 20.5 ETDRS letters. 29% of the eyes lost more than 5 letters. OCT was active in 67% of eyes before lockdown and in 80.4% after lockdown. Multiple lineal analysis showed that patients whose OCT before lockdown presented with a combination of intra and subretinal fluid were more likely to suffer a greater visual loss (p = 0.002). These patients should be encouraged to not miss any visits in case a new lockdown is imposed

Rotation of retinal vascular arcades and comparison with disc-fovea angle in the assessment of cycloposition

Background/aims: To assess the agreement between disc-fovea angle (DFA) and the retinal vascular arcades rotation to measure cycloposition. Device repeatability and reproducibility between observers were also evaluated. Methods: Cycloplegic retinography was taken in 321 eyes of 165 normal patients and repeated in 18 eyes at least 24 h later. Two independent observers used software to determine DFA, vein-related angle (VRA) and artery-related angle (ARA) in every retinography. Mean value of related angle (MRA) (mean value of VRA and ARA) was calculated. Results: Camera repeatability was good (Intra-class Correlation Coefficient, ICC 0.89). In Bland-Altman analysis, mean VRA, ARA and MRA were 4° to 5° different from DFA (p0.05). Conclusions: The rotation of retinal vascular arcades using a first-order approximation technique is no substitute to DFA when assessing torsion in fundus photographs. Of the methods tested, MRA correlated most closely, but DFA remains the gold standard for cycloposition. The rotation of vascular arcades provides a qualitative assessment, particularly in uncertain macular location

Oct parameters as predictive factors for the visual outcome after ranibizumab therapy in neovascular age related macular degeneration

Objective: To evaluate macular morphological parameters measured by spectral domain optical coherence tomography (SD-OCT) as predictive factors of visual outcome in patients with exudative age-related macular degeneration (AMD) treated with ranibizumab. Methods: A retrospective study was conducted on 47 patients diagnosed with exudative AMD and treated with intravitreal ranibizumab for 12 months. Central retinal thickness (CRT), extension and thickness of modifications secondary to neovascular process, and status of the bands corresponding to the external limiting membrane (ELM) and to the ellipsoid region of the photoreceptors (ISe) were evaluated by means of SD-OCT. The relationship between these variables and visual acuity was analyzed by statistical methods. Results: At the time of the diagnosis, preservation of ELM and ISe bands, and CRT were correlated with initial visual acuity. Twelve months later, CRT and visual acuity were independent parameters. Bivariate relationship analysis showed a correlation between final visual acuity and the following parameters: initial CRT, initial ISe and ELM status, and ISe and ELM integrity after loading dose. Multiple regression analysis indicated that initial visual acuity and ISe band status after loading dose have a predictive value for final visual acuity. Conclusions: The status of ISe and ELM bands after 12 months of treatment with ranibizumab was associated with visual outcome. Initial visual acuity and status of the ISe band after loading dose are prognostic factors of final visual acuity