Enfermedad de Best multifocal: la importancia de los test genéticos

Objectives and methods

Our objective is to describe a multifocal vitelliform presentation of Best's disease.The lesions in this disease may vary in size and shape, some may be a disc diameter in size, and often have some irregularity in their contour.The case is described of a 21-year-old male patient referred to our ophthalmology department due to a progressive loss of vision.His poor visual acuity was confirmed, and a complete examination was performed, in which macular flecks were observed, with yellow pigment arranged in oval distribution near their periphery. Due to the suspicion of Best's multifocal disease, genetic tests were performed.Multifocal vitelliform disease with the same features as those in Best's disease occurs most frequently in patients with a normal electro-oculogram (EOG), and a normal family history.

Terapia láser transescleral de micropulsos en el manejo de los pacientes de glaucoma

ObjectiveTo evaluate the efficacy and safety of MicroPulse® transscleral laser therapy (TLT) in the management of glaucoma patients.MethodsA prospective, interventional, non-comparative case series was conducted in the department of ophthalmology, Ain Shams University Hospital on 61 eyes of 46 patients with various glaucoma types and of severity, ranging from mild to severe. In addition to best-corrected visual acuity (BCVA), intraocular pressure (IOP) and the number of glaucoma medications were recorded before and after treatment, along with the postoperative need for systemic carbonic anhydrase inhibitors (CAI), success rates, number of treatment sessions and postoperative complications. Success was defined as an IOP of 6-18 mmHg or at least a 30% decrease from preoperative IOP in the absence of any vision-threatening complications during the 6-month follow-up period.ResultsMicroPulse TLT was performed on 61 glaucomatous eyes. Eleven of the 61 eyes (18%) that did not achieve IOP between 6-18 mmHg, or at least a 30% decrease from baseline at 6 months, had a repeat MicroPulse TLT session.At 6 months follow-up post a single MicroPulse TLT session, the mean IOP reduction was 35.9 ± 14.2%; and 6 months after the second session, it was 36.2 ± 17.5% (P < .001). The success rate after the first session was 73.8% which increased to 78.7% after the second session. The mean anterior chamber (AC) cell reaction was + 1.9 ± .8 at 1 day, + 1.0 ± .7 at 1 week, and + .2 ± .4 at 1 month postoperatively. No cells were detected in any of the cases at 3 and 6 months follow-up (P < .001). The average number of anti-glaucoma eye drops before MicroPulse TLT was 2.6 ± 1.0. Postintervention, the average number of anti-glaucoma eye drops was 1.7 ± 1.2, and sustained at 6 months follow-up after the last treatment session (P < .001). There were no significant complications were noted. One eye developed transient hypotony for 3 months after MicroPulse TLT.ConclusionsMicroPulse TLT is safe and effective in lowering IOP in a variety of glaucoma types and severity.     

Asociación entre polimorfismos de los genes POLG y XRCC1 y aparición de queratocono entre pacientes egipcios

BackgroundKeratoconus is a progressive disorder distinguished by thinning of the corneal tissue and bulging forward into a cone-shaped fashion. Yet its etiology, which is multifactorial, despite intensive research remains elusive. Corneal exposure a reactive oxygen species causing oxidative DNA damage has been reported to be associated with KC and therefore suggesting that DNA base excision repair mechanism might lie behind the pathogenesis of the disease.MethodsWe studied the association of three variants in two BER genes (XRCC1 and POLG) and QC occurrence in a cohort of patients from Egypt. Genotyping of the three variants was performed using PCR and restriction enzymes analysis.ResultsWe observed that A allele and A/A genotype of the c.1196A>G variant in the XRCC1 gene were significantly associated with increased KC occurrence while the G allele was associated with decreased KC occurrence. Similarly, the A/A genotype of the c.–1370T>A polymorphism in the POLG gene and the A allele were associated with increased occurrence of KC, while T/A genotype and the T allele were accompanied with decreased occurrence of KC. On the other hand, no association was observed between the c.580C>T variant in the XRCC1 gene and KC occurrence among the studied group of patients.ConclusionOur results suggest that c.1196A>G variant of the XRCC1 and c.–1370T>A variant of the POLG gene may be involved in KC pathogenesis and might be considered as a genetic risk factors of the disease among Egyptian population.     

El rol actual de los trombolíticos en el tratamiento de la obstrucción de arteria central de la retina

ObjectiveThe purpose of this study is to determine the application of thrombolytic treatment in central retinal artery occlusion (CRAO), its real benefit, safety and possible indications for treatment.MethodsWe searched the PubMed, Cochrane and Google Scholar databases delving first into the effectiveness of the traditional treatment for CRAO, and then comparing them with new treatment strategies with intra venous or intra arterial fibrinolysis.ResultsWhereas small retrospective and open-label observational trials support the use of thrombolytic therapy, multicenter randomized trials failed to demonstrate a significant visual improvement with this new strategy. Besides that, a greater risk of life threatening adverse event was observed in patients using thrombolytic treatment.ConclusionUntil well-conducted clinical trials demonstrate a clear benefit of thrombolytic therapy for improving visual acuity and their benefit are weighted against the frequency and severity of adverse events, we could not recommend fibrinolysis for treating CRAO.     

Complicaciones y agudeza visual en los pacientes con uveítis en una unidad multidisciplinar de referencia del norte de España

ObjectiveTo describe uveitis complications and visual acuity in a cohort of 500 patients in a multidisciplinary unit in northern Spain.Material and methodsRetrospective-prospective study of complications and visual acuity of 500 adult patients evaluated in the Multidisciplinary Unit of the Navarra Hospital Complex from the period January 2010 until March 2015. An analysis was made of the complications, visual acuity and visual loss, with a follow-up of one-year. A comparative study was also made of the complications with 2 previous series published in Madrid and Holland.ResultsModerate-severe visual loss was 13.5% in the right eye, and 13% in the left eye. Visual loss was associated with an age of 65 years or above. Complications were observed in 35% of patients, and cataract was the most frequent complication (10%), followed by synechiae (8%), and macular oedema (5%). Compared with the 2 other series, the present cohort showed a higher proportion of cataracts.ConclusionsVisual loss was associated with older age and cataract was the most common complication in our study.     

Cambios morfológicos y morfométricos en los capilares del nervio óptico de rata en un modelo experimental de glaucoma

AimTo study the morphological and morphometric changes produced in the capillaries of the optic nerve (ON) head and initial portion after the experimental increase in intraocular pressure (IOP).Material and methodsWistar rats underwent cauterization of three episcleral veins, which produced an immediate increase in the IOP, and was maintained for 3 months. Sagittal sections of the eyeball were studied with immunohistochemical techniques, using a primary antibody to GLUT-1. The GLUT-1 positive capillaries were counted, and measurements were made of the area, perimeter and mean diameter.ResultsMicroscopic examination of sections of the ON of control rats revealed a lower density and larger caliber of capillaries in the prelaminar region as compared with the other regions of the ON (P<.05). Comparison between the control and the experimental groups showed a reduction in capillary density (except in the prelaminar region) and a smaller size in all the areas of the ON studied, but less evident in the initial portion (P<.05).ConclusionsThe increase in IOP was associated with significant qualitative and quantitative changes in the capillaries of the laminar and poslaminar regions of the ON head. These changes appear to return towards parameters compatible with normality in the initial portion of the ON, an area where the vascular collapse was less evident. These findings might explain the significant reduction in ocular blood flow seen in patients with primary open-angle glaucoma.     

Evaluación del grosor de los músculos extraoculares y estudio de correlación mediante tomografía de coherencia óptica

Objective

To report reference values for the horizontal rectus muscles thickness using Spectral Domain optical coherence tomography (SD-OCT), and to evaluate whether there are any correlations between the muscle thickness and gender, age, or axial length (AL).

Evaluación de los signos de la pseudoexfoliación en el segmento anterior mediante tomografía de coherencia óptica y cámara de Scheimpflug

Objective

To evaluate different anterior segment parameters in eyes with pseudoexfoliation (PSX), fellow eyes, and controls using optical coherence tomography and a Scheimpflug imaging system.

Evaluación del grosor de los músculos extraoculares y la quemosis tras tocilizumab en oftalmopatía de Graves mediante tomografía de coherencia óptica

Purpose

To assess the extraocular muscle thickness and chemosis after treatment with tocilizumab in patients with active Graves’ ophthalmopathy by optical coherence tomography.

Impacto de la infección por el nuevo coronavirus en los pacientes con uveítis asociada a una enfermedad autoinmune: resultado de la encuesta COVID-19-GEAS pacientes

IntroductionThe objetive of these study is to know the characteristics of COVID-19 in patients with uveitis associated with Systemic Autoimmune Disease (SAD) through telematic survey.Material and methodsInternal Medicine Society and Group of Systemic Autoimmune disease conducted a telematic survey of patients with SAD to learn about the characteristics of COVID-19 in this population.ResultsA total of 2,789 patients answered the survey, of which 28 had a diagnosis of uveitis associated with SAE. The majority (82%) were female and caucasian (82%), with a mean age of 48 years. The most frequent SAEs were Behçet's disease followed by sarcoidosis and systemic lupus erythematosus. 46% of the patients were receiving corticosteroid treatment at a mean prednisone dose of 11 mg/day. Regarding infection, 14 (50%) patients reported symptoms compatible with SARS-CoV-2 infection. RT-PCR was performed on the nasopharyngeal smear in two patients and in one of them (4%) it was positive.ConclusionsBoth asymptomatic and symptomatic COVID-19 patients with ASD-associated UNI had received similar immunosuppressive treatment.     

Mapeo de los cambios de grosor en el glaucoma de las capas retinianas maculares segmentadas usando el programa de polo posterior de la tomografía de coherencia óptica de dominio espectral

Objectives

To evaluate changes in retinal layers of the macula (mRLs) using OCT posterior pole program (PPP) in primary open-angle glaucoma (POAG).