Functional and structural neuroretinal disorders in HIV Controllers. Prospective cohort study.

OBJECTIVE: To estimate the prevalence and cumulative incidence of neuro-retinal-disorders (NRD) in HIV-controllers. DESIGN: Prospective, single-centre, cohort study of people living with HIV (PLWH): elite-controllers, long-term-non-progressors and early diagnosed. METHODS: The study compared "HIV-controllers" (including elite-controllers and long-term-non-progressors), who were not on antiretroviral therapy (ART), and "HIV-treatment" (HIV-infected subjects with a recent diagnosis and on ART). A matched cohort of "non-HIV subjects" was created. NRD was defined as at least one altered (not normal) ophthalmological parameter (functional or structural). Functional (visual acuity, contrast sensitivity, chromatic vision, visual field) and structural parameters (ganglion cells, macular nerve fibre layer, peripapillary nerve fibre layers, vascular calibre) as well as quality of life (Medical Outcomes Study-HIV Short Form-30) were assessed. RESULTS: Between March 2012 and November 2015, the study included all HIV-controllers (16 elite-controllers, 1 long-term-non-progressor), 11 HIV-treatment and 16 non-HIV. Prevalence of NRD at baseline was 88.2% (15/17, 95% CI: 65.7%-96.7%), 90.9% (10/11, 95% CI: 62.3%-98.4%) and 56.3% (9/16, 95% CI: 33.2%-76.9%), respectively. Cumulative incidence at 3 years was 50% (1/2), 100% (1/1) and 33.3% (2/6), respectively. None of the participants manifested ocular clinical symptoms. Three years later, prevalence of NRD was 92.3% (12/13, 95% CI: 66.7%-98.6%), 75% (6/8, 95% CI: 40.9%-92.9%) and 50.0% (7/14, 95% CI: 26.8%-73.2%), respectively. Contrast sensitivity and structural parameters were globally the most affected among PLWH. Quality of life (total score) [median (interquartile range)] at baseline and 3 years was 82 (71-89) and 74 (63.5-79.25) in HIV-controllers and 80 (73-88) and 88 (83-92) in HIV-treatment. CONCLUSIONS: HIV-controllers and those individuals on ART presented a higher percentage of NRD than non-HIV. Our results suggest that NRD could be a biomarker of ocular aging among PLWH.

Retinal venous occlusion and its association with atherosclerotic vascular disease. / Oclusión venosa de retina y su asociación con la enfermedad vascular aterosclerótica.

Retinal venous occlusion (RVO) is the second most frequent cause of decreased visual acuity due to retinal vascular, after diabetic retinopathy. Its etiology is not completely clear. Current scientific evidence suggests that it is related to the atherosclerotic process given the high number of cardiovascular risk factors and the higher incidence of cardiovascular events in these patients. In fact, RVO implies a 45% higher risk of stroke, 26% of acute myocardial infarction and peripheral vascular disease, 53% of heart failure and 36% of overall mortality, compared to the general population adjusted for age, sex and the different cardiovascular risk factors. However, no increase in cardiovascular mortality has been detected. Therefore, a multidisciplinary clinical approach to this pathology is essential.

Implementation of a retinal stroke-code protocol results in visual recovery in patients receiving reperfusion therapies.

INTRODUCTION: Reperfusion therapies represent promising treatments for patients with Central Retinal Artery Occlusion (CRAO), but access is limited due to low incidence and lack of protocols. We aimed to describe the benefit of implementing a Retinal Stroke-Code protocol regarding access to reperfusion, visual acuity and aetiological assessment. PATIENTS AND METHODS: Prospective cohort study performed at a Comprehensive Stroke Centre. Criteria for activation were sudden monocular, painless vision loss within 6 h from onset. Eligible patients received IAT when immediately available and IVT otherwise. All patients were followed by ophthalmologists to assess best-corrected visual acuity (BCVA) and visual complications, and by neurologists for aetiological workup. Visual amelioration was defined as improvement of at least one Early Treatment Diabetic Retinopathy Study (ETDRS) letter from baseline to 1 week. RESULTS: Of 49 patients with CRAO, 15 (30.6%) received reperfusion therapies (12 IVT, 3 IAT). Presentation beyond 6 h was the main contraindication. Patients receiving reperfusion therapies had better rates of visual improvement (33.3% vs 5.9%, p = 0.022). There were no complications related to reperfusion therapies. Rates of neovascular glaucoma were non-significantly lower in patients receiving reperfusion therapies (13.3% vs 20.6%, p = 0.701). Similar rates of atherosclerotic, cardioembolic and undetermined aetiologies were observed, leading to 10 new diagnosed atrial fibrillation and five carotid revascularizations. CONCLUSION: A comprehensive acute management of CRAO is feasible despite low incidence. In our study, reperfusion therapies were safe and associated with higher rates of visual recovery. A similar etiological workup than ischemic stroke led to of high proportion of underlying aetiologies.

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.

PURPOSE: To describe the clinical characteristics, the imaging findings, and the genetic results of a patient with cone-rod dystrophy (CORD) related to mutations in CEP290. METHODS: A case report of atypical CEP290-related CORD. Ophthalmological examination was performed, including best-corrected visual acuity (BCVA), fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), a visual field test, and electroretinography testing. The genetic test was performed by next-generation sequencing (NGS)-based panel test containing 336 genes. RESULTS: A 57-year-old female who had reported a visual loss for 5 years. BCVA was 20/100 in both eyes. The fundus examination revealed a hypopigmented halo around the fovea, showing a paracentral hyperautofluorescent ring on FAF. OCT demonstrated the presence of atrophy in the outer retinal layers. The genetic test identified the probably pathogenic variants c.4028delA and c.5254C>T in compound heterozygosis in CEP290. CONCLUSIONS: This is the first report to present the clinical characteristics, imaging findings, and genetic test results of a patient with CEP290-related CORD. Our case contributes to expanding the clinical involvement of CEP290 pathogenic variants. This study indicates that CEP290-related CORD may have a mild phenotype with late-onset dystrophy, making these patients interesting candidates for innovative treatments such as genetic therapeutic approaches.

An unusual presentation of uveitis in a HIV-infected late presenter patient / Presentación inusual de uveítis en un paciente HIV late presenter

No disponible