Gyrate atrophy of the choroid and retina: Update on diagnosis and treatment.

Gyrate atrophy of the choroid and retina (GACR) is a rare autosomal recessive disease characterised by elevated plasma ornithine levels due to deficiency of the enzyme ornithine aminotransferase (OAT). The accumulation of this amino acid in plasma leads to the development of patches of chorioretinal atrophy in the peripheral retina extending into the macular area. Patients usually present with night blindness followed by constriction of the visual field and, finally, decreased central vision and blindness. The disease is diagnosed by the presence of the characteristic clinical picture, the presence of hyperornithinaemia in plasma and the detection of mutations in the OAT enzyme gene. There is currently no effective gene therapy and the most common therapeutic intervention mainly involves dietary modifications with arginine restriction. This article aims to summarise the pathogenesis, clinical and diagnostic findings and treatment options in patients with GACR.

Bilateral macular edema in sistemic sclerosis.

Systemic sclerosis is a chronic, autoimmune, multisystem disease characterized by vascular dysfunction, chronic inflammation and widespread fibrosis. Although vascular involvement commonly manifests in the skin, it can also affect other organs, including the eyes. The characteristic vascular alteration is an obliterative fibroproliferative vasculopathy leading to hypoxia and tissue ischemia. We present a case of bilateral macular edema in a patient diagnosed with systemic sclerosis, as a consequence of retinal and choroidal vascular changes.

Emergence and dissemination of three mild outbreaks of Neisseria gonorrhoeae with high-level resistance to azithromycin in Barcelona, 2016-18.

BACKGROUND: Neisseria gonorrhoeae (NG) isolates with high-level azithromycin resistance (HL-AziR) have emerged worldwide in recent decades, threatening the sustainability of current dual-antimicrobial therapy. OBJECTIVES: This study aimed to characterize the first 16 NG isolates with HL-AziR in Barcelona between 2016 and 2018. METHODS: WGS was used to identify the mechanisms of antimicrobial resistance, to establish the MLST ST, NG multiantigen sequence typing (NG-MAST) ST and NG sequence typing for antimicrobial resistance (NG-STAR) ST and to identify the clonal relatedness of the isolates with other closely related NG previously described in other countries based on a whole-genome SNP analysis approach. The sociodemographic characteristics of the patients included in the study were collected by comprehensive review of their medical records. RESULTS: Twelve out of 16 HL-AziR isolates belonged to the MLST ST7823/NG-MAST ST5309 genotype and 4 to MLST ST9363/NG-MAST ST3935. All presented the A2059G mutation in all four alleles of the 23S rRNA gene. MLST ST7823/NG-MAST ST5309 isolates were only identified in men who have sex with women and MLST ST9363/NG-MAST ST3935 were found in MSM. Phylogenomic analysis revealed the presence of three transmission clusters of three different NG strains independently associated with sexual behaviour. CONCLUSIONS: Our findings support the first appearance of three mild outbreaks of NG with HL-AziR in Spain. These results highlight the continuous capacity of NG to develop antimicrobial resistance and spread among sexual networks. The enhanced resolution of WGS provides valuable information for outbreak investigation, complementing the implementation of public health measures focused on the prevention and dissemination of MDR NG.

Do Season and Environment Have a Role in the Incidence of Anterior Uveitis Attacks?

PURPOSE: To investigate the seasonal influence on the incidence of uveitis attacks. METHODS: An ecological study was designed including 731 uveitis attacks in 594 patients diagnosed at the eye emergency of a hospital in Madrid between 2014 and 2017. The incidence of uveitis attacks, B27+, and presumed herpetic attacks were calculated, and their correlations with seasonal and environmental variables in the same timeframe were analyzed. The analyzed variables were precipitation, barometric pressure, temperature, humidity, wind speed, global solar radiation, ultraviolet radiation, air pollution components (particulate matter and polluting gases), and the incidence of influenza. RESULTS: The incidence of attacks was significantly higher in the winter than in the autumn (p = .025). It showed a significant correlation to the number of rainy days per month (r = 0.612;p = .04), and the average wind speed (r = 0.469;p = .02) after Bonferroni correction. CONCLUSION: Uveitis episodes happened more frequently under rainy and windy conditions. Most factors were not significantly correlated to attacks.

The diagnostic usefulness of the negative electroretinogram. / La utilidad diagnóstica del electrorretinograma negativo.

The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies. On the other hand, it can also be found unilaterally (or asymmetrically) in acquired pathologies, such as some types of immuno-mediated retinitis (Birdshot retinochoroiditis), autoimmune retinopathies, cancer/melanoma associated retinopathy, or retinal toxicity. The objective of this review is to summarise the characteristics of the pathologies in which this finding can be observed, in order to highlight its usefulness in the differential diagnosis of retinal conditions.

Spontaneous closure of a blue laser induced full thickness macular hole. / Cierre espontáneo de un agujero macular de espesor completo secundario a exposición accidental a puntero láser azul.

CASE REPORT: A 14 year-old boy attended our clinic complaining of a scotoma after an accidental exposure to a 10W, 450nm laser beam from a blue-light handheld laser device. Optical coherence tomography confirmed a full thickness macular hole. As visual acuity (VA) remained 20/20 Snellen, observation was decided. Spontaneous closure was confirmed after one month. DISCUSSION: Reckless use of high-power handheld laser devices may induce severe retinal lesions, including full thickness macular holes. Observation is a sensible treatment option in this type of macular hole, especially when VA is preserved. The pathophysiology of these cases differs from senile full thickness macular holes.

Efficacy and safety of wet wrap therapy for patients with atopic dermatitis: a systematic review and meta-analysis.

Wet wrap therapy (WWT) consists of topical steroids administered under a layer of wet cotton bandages or garments. Several trials with WWT have reported promising results in atopic dermatitis (AD). However, no systematic review and meta-analysis on its efficacy and safety has been published. Our objective was to conduct a systematic review of the literature on WWT in AD to assess its efficacy and safety. We included randomized controlled trials among patients of all ages with a diagnosis of AD based on predefined criteria or made by a dermatologist. Electronic searches were performed from 1970 to 30 March 2016 in the Cochrane Central Register of Controlled Trials, MEDLINE, Embase and the World Health Organization International Clinical Trials Registry. Selection of studies and data extraction were performed independently by two researchers, and discrepancies were resolved by consensus. Six trials comparing WWT with topical steroids in children or adults with AD were included. Sample sizes ranged from 19 to 51 patients. Results on clinical severity and quality of life were reported incompletely and proved heterogeneous across studies. A nonsignificant tendency to increased risk of mild skin infections was observed in those treated with WWT (pooled relative risk 6·35, 95% confidence interval 0·83-48·55). The overall grade of quality of evidence for the efficacy and safety outcomes was low. In conclusion, the evidence that WWT is more effective than conventional treatment with topical steroids in AD is of low quality. Further clinical trials should establish the efficacy of WWT in AD.

Development and validation of a Bayesian network for the differential diagnosis of anterior uveitis.

PurposeTo develop and validate a Bayesian belief network algorithm for the differential diagnosis of anterior uveitis.Patients and methodsThe 11 most common etiologies were included (idiopathic, ankylosing spondylitis, psoriasic arthritis, reactive arthritis, inflammatory bowel diseases, sarcoidosis, tuberculosis, Behçet, Posner-Schlossman syndrome, juvenile idiopathic arthritis (JIA), and Fuchs' heterochromic cyclitis). Frequencies of association between factors and etiologies were retrieved from a systematic review of the literature. Prevalences were calculated using a random sample of 200 patients receiving a diagnosis of anterior uveitis in Moorfields Eye Hospital in 2012. The network was validated in a random sample of 200 patients receiving a diagnosis of anterior uveitis in the same hospital in 2013 plus 10 extra cases of the most rare etiologies (JIA, Behçet, and psoriasic arthritis).ResultsIn 63.8% of patients the most probable etiology by the algorithm matched the senior clinician diagnosis. In 80.5% of patients the clinician diagnosis matched the first or second most probable results by the algorithm. Taking into account only the most probable diagnosis by the algorithm, sensitivities for each etiology ranged from 100% (7 of 7 patients with reactive arthritis and 5 of 5 with Behçet correctly classified) to 46.7% (7 of 15 patients with tuberculosis-related uveitis). Specificities ranged from 88.8% for sarcoidosis to 99.5% in Posner.ConclusionsThis algorithm could help clinicians with the differential diagnosis of anterior uveitis. In addition, it could help with the selection of the diagnostic tests performed.

Vitrectomy with subretinal tissue plasminogen activator and ranibizumab for submacular haemorrhages secondary to age-related macular degeneration: retrospective case series of 45 consecutive cases.

PurposeTo assess the efficacy of small-gauge vitrectomy with subretinal recombinant tissue plasminogen activator (rtPA) and ranibizumab for submacular haemorrhages secondary to neovascular age-related macular degeneration (nAMD), and to identify the factors associated with visual outcome.MethodsA retrospective case series was performed, including all patients who had small-gauge vitrectomy with subretinal rtPA and ranibizumab for submacular haemorrhages secondary to nAMD. All patients received three consecutive monthly injections of ranibizumab after the surgery, and were reviewed monthly and treated on a pro re nata regime.ResultsA total of 45 eyes of 45 patients were included in the study. Mean age was 77.07±9.67 years, and 32 of 45 patients (71.1%) were women. Surgery was performed on average 6.98±5.70 days after the onset of symptoms, and patients were observed for a follow-up period of 12.9±10.8 months. On average, visual acuity improved -0.59±0.61 LogMAR between presentation and last follow-up. Visual acuity improved in 33 patients (73.3%), remained unchanged in 10 patients (22.2%), and worsened in 2 patients (4.4%). Multiple linear regression showed that patients with smaller haemorrhages (P=0.012) and prompt surgery (P=0.008) had better final visual acuities. A haemorrhage area of ≤30 mm(2) had 91.3% sensitivity and 73.3% specificity for predicting a final visual acuity ≥6/60.ConclusionSmall-gauge vitrectomy with subretinal rtPA and ranibizumab is effective for improving visual acuity in patients with submacular haemorrhages secondary to nAMD. Small haemorrhage area and prompt surgery are associated with better final visual acuity.

Mobile genetic elements related to the diffusion of plasmid-mediated AmpC ß-lactamases or carbapenemases from Enterobacteriaceae: findings from a multicenter study in Spain.

We examined the genetic context of 74 acquired ampC genes and 17 carbapenemase genes from 85 of 640 Enterobacteriaceae isolates collected in 2009. Using S1 pulsed-field gel electrophoresis and Southern hybridization, 37 of 74 bla AmpC genes were located on large plasmids of different sizes belonging to six incompatibility groups. We used sequencing and PCR mapping to investigate the regions flanking the acquired ampC genes. The bla CMY-2-like genes were associated with ISEcp1; the surrounding bla DHA genes were similar to Klebsiella pneumoniae plasmid pTN60013 associated with IS26 and the psp and sap operons; and the bla ACC-1 genes were associated with IS26 elements inserted into ISEcp1. All of the carbapenemase genes (bla VIM-1, bla IMP-22, and bla IMP-28) were located in class 1 integrons. Therefore, although plasmids are the main cause of the rapid dissemination of ampC genes among Enterobacteriaceae, we need to be aware that other mobile genetic elements, such as insertion sequences, transposons, or integrons, can be involved in the mobilization of these genes of chromosomal origin. Additionally, three new integrons (In846 to In848) are described in this study.

Opacificación de la cápsula posterior, síndrome de distensión capsular y síndrome de fimosis de la cápsula anterior: estudio de cohortes retrospectivo / Posterior capsule opacification, capsular bag distension syndrome, and anterior capsular phimosis: A retrospective cohort study

OBJETIVO: Determinar la incidencia y los factores de riesgo implicados en el desarrollo de las tres principales complicaciones capsulares postoperatorias: opacificación de cápsula posterior (OCP), síndrome de distensión capsular (SDC) y fimosis de la cápsula anterior (FCA). Sujetos, material y métodos: Estudio de cohortes retrospectivo. Se incluyó a 801 pacientes operados mediante cirugía de catarata en el Servicio de Oftalmología del Hospital del Henares (Madrid), entre el 2 de marzo de 2009 y el 28 de febrero de 2010. La historia clínica electrónica fue revisada durante el mes de julio de 2012. La OCP se estudió utilizando el método de Kaplan-Meier (log rank test). RESULTADOS: Un total de 167 pacientes desarrollaron OCP. No se pudo demostrar asociación entre la OCP y edad, sexo, diabetes mellitus, técnica de facoemulsificación, modelo de lente intraocular (LIO), consumo de tamsulosina, grado de síndrome de iris flácido intraoperatorio, glaucoma ni la degeneración macular asociada a la edad. Tres pacientes desarrollaron SDC, todos ellos habían recibido una LIO Akreos Adapt AO® (Bausch & Lomb). Dos de ellos eran varones jóvenes, con diagnóstico de catarata subcapular posterior. Tres pacientes desarrollaron FCA, dos de ellos habían recibido una LIO MicroSlim® (PhysIOL). CONCLUSIONES: No pudo demostrarse asociación de la OCP con ninguna de las variables estudiadas. El sexo masculino, la edad joven, la catarata subcapsular posterior y las LIO grandes no anguladas como la Akreos Adapt AO®podrían asociarse al desarrollo de SDC. Las LIO de microincisión, como la MicroSlim®, podrían asociarse al desarrollo de FCA

OBJECTIVE: To determine the incidence and the risk factors involved in the development of the three main postoperative capsular complications: posterior capsule opacification (PCO), capsular bag distension syndrome (CBDS), and anterior capsular phimosis syndrome (ACP). Subjects, material and methods: A retrospective cohort study was conducted on 801 patients submitted to cataract surgery in the ophthalmology unit of Hospital del Henares (Madrid) from March 2, 2009 to February 28, 2010. Computerized clinical charts were reviewed during July 2012. PCO was studied using the Kaplan-Meier method (log rank test). RESULTS: A total of 167 patients developed PCO. No association could be demonstrated between PCO and age, sex, diabetes mellitus, phaco technique, IOL model, tamsulosin intake, glaucoma, and age-related macular degeneration. Three patients developed CBDS, all of them have received and Akreos Adapt AO® (Bausch & Lomb). Two of them were young men who had received surgery for posterior subcapsular cataracts. Three patients developed ACP, 2 of whom had received a MicroSlim® IOL (PhysIOL). CONCLUSIONS: No association was found between PCO and any of the studied variables. Male gender, young age, subcapsular cataract and large non-angulated lens such as Akreos Adapt AO® could be associated with CBDS. ACP could be more frequent when microincision IOLs (like MicroSlim®) are implanted

[Recurrent neurosensory macular detachment in carotid-cavernous fistula]. / Desprendimiento neurosensorial macular recurrente en fístula carótido-cavernosa.

CASE REPORT: A 46 year-old man was seen in the emergency department complaining of vision loss and exophthalmos in his right eye. He also complained of headache, diplopia of 4 months onset, and neurosensory detachment that resolved spontaneously the month before. The study revealed tortuous conjunctival and episcleral vessels and neurosensory macular detachment in his right eye. A carotid-cavernous fistula was confirmed by computed tomography angiography. The fistula closed spontaneously during the hospitalization. One month later, the neurosensory detachment disappeared again. DISCUSSION: Carotid-cavernous fistula should be included in the differential diagnosis of neurosensory macular detachments. These neurosensory detachments can resolve spontaneously 11 the fistula is closed.

[Posterior capsule opacification, capsular bag distension syndrome, and anterior capsular phimosis: A retrospective cohort study]. / Opacificación de la cápsula posterior, síndrome de distensión capsular y síndrome de fimosis de la cápsula anterior: estudio de cohortes retrospectivo.

OBJECTIVE: To determine the incidence and the risk factors involved in the development of the three main postoperative capsular complications: posterior capsule opacification (PCO), capsular bag distension syndrome (CBDS), and anterior capsular phimosis syndrome (ACP). SUBJECTS, MATERIAL AND METHODS: A retrospective cohort study was conducted on 801 patients submitted to cataract surgery in the ophthalmology unit of Hospital del Henares (Madrid) from March 2, 2009 to February 28, 2010. Computerized clinical charts were reviewed during July 2012. PCO was studied using the Kaplan-Meier method (log rank test). RESULTS: A total of 167 patients developed PCO. No association could be demonstrated between PCO and age, sex, diabetes mellitus, phaco technique, IOL model, tamsulosin intake, glaucoma, and age-related macular degeneration. Three patients developed CBDS, all of them have received and Akreos Adapt AO(®) (Bausch & Lomb). Two of them were young men who had received surgery for posterior subcapsular cataracts. Three patients developed ACP, 2 of whom had received a MicroSlim(®) IOL (PhysIOL). CONCLUSIONS: No association was found between PCO and any of the studied variables. Male gender, young age, subcapsular cataract and large non-angulated lens such as Akreos Adapt AO(®) could be associated with CBDS. ACP could be more frequent when microincision IOLs (like MicroSlim(®)) are implanted.