Utility of CT and MRI in Cardiac Electrophysiology.

Cardiac electrophysiology involves the diagnosis and management of arrhythmias. CT and MRI play an increasingly important role in cardiac electrophysiology, primarily in preprocedural planning of ablation procedures but also in procedural guidance and postprocedural follow-up. The most common applications include ablation for atrial fibrillation (AF), ablation for ventricular tachycardia (VT), and for planning cardiac resynchronization therapy (CRT). For AF ablation, preprocedural evaluation includes anatomic evaluation and planning using CT or MRI as well as evaluation for left atrial fibrosis using MRI, a marker of poor outcomes following ablation. Procedural guidance during AF ablation is achieved by fusing anatomic data from CT or MRI with electroanatomic mapping to guide the procedure. Postprocedural imaging with CT following AF ablation is commonly used to evaluate for complications such as pulmonary vein stenosis and atrioesophageal fistula. For VT ablation, both MRI and CT are used to identify scar, representing the arrhythmogenic substrate targeted for ablation, and to plan the optimal approach for ablation. CT or MR images may be fused with electroanatomic maps for intraprocedural guidance during VT ablation and may also be used to assess for complications following ablation. Finally, functional information from MRI may be used to identify patients who may benefit from CRT, and cardiac vein mapping with CT or MRI may assist in planning access. ©RSNA, 2024 Supplemental material is available for this article.

Anatomy of the Ventricular Outflow Tracts: An Electrophysiology Perspective.

Outflow tract ventricular arrhythmias are the most common type of idiopathic ventricular arrhythmia. A systematic understanding of the outflow tract anatomy improves procedural efficacy and enables electrophysiologists to anticipate and prevent complications. This review emphasizes the three-dimensional spatial relationships between the ventricular outflow tracts using seven anatomical principles. In turn, each principle is elaborated on from a clinical perspective relevant for the practicing electrophysiologist. The developmental anatomy of the outflow tracts is also discussed and reinforced with a clinical case.

The subtle tine: Asymptomatic Micra perforation incidentally discovered during cardiac surgery.

A 70-year-old woman with longstanding persistent atrial fibrillation underwent Micra leadless pacemaker implantation and atrioventricular nodal ablation. No postprocedural complications were noted. She subsequently underwent surgical mitral valve replacement 4 years later. During the surgery, Micra tine perforation of the right ventricular free wall was seen. No device revision was performed due to her asymptomatic status and stable pacemaker position/function. Pericardial effusion is a known complication of Micra implantation. The incidence of tine perforation is unknown as many patients may be asymptomatic. The clinical consequences regarding adverse events, device functionality, and explantation/extraction risk profile remain to be determined.

Androgenetic alopecia incidence in transgender and gender diverse populations: A retrospective comparative cohort study.

BACKGROUND: Androgenetic alopecia (AGA) is a significant challenge for many transgender and gender diverse (TGD) patients, but the rate of AGA among TGD patients receiving gender-affirming hormone therapy (GAHT) compared to cisgender patients has not yet been studied on a large scale. OBJECTIVE: We examined the incidence of AGA among TGD patients receiving GAHT compared to cisgender patients. METHODS: Retrospective cohort study using electronic health records from 37,826 patients seen at Fenway Health between August 1, 2014, and August 1, 2020. Crude and adjusted incidence rate ratios (aIRR) for AGA were calculated using Poisson regression. RESULTS: TGD patients receiving masculinizing GAHT had aIRR 2.50, 95% CI 1.71-3.65 and 1.30, 95% CI 0.91-1.86 compared to cisgender women and cisgender men, respectively. The rate of AGA for TGD patients receiving feminizing GAHT was not significantly different compared to cisgender men but was significantly increased compared to cisgender women (aIRR 1.91, 95% CI 1.25-2.92). LIMITATIONS: Inability to determine causation and limited generalizability. CONCLUSION: TGD patients receiving masculinizing GAHT have 2.5 times the rate of AGA compared to cisgender women, whereas TGD patients on feminizing GAHT did not have a significantly increased rate of AGA compared to cisgender men.

Evaluating the effectiveness of vegetarian appeals in daily life: Comparing positive and negative imagery, and gauging differential responses.

Persuasive appeals designed to reduce meat consumption often employ graphic images of the harms perpetuated by eating meat (e.g., cruel factory farming practices). However, because people are motivated to see themselves as moral, appeals that highlight omnivores' moral failings might be resisted or even backfire. Furthermore, individuals differ in ways that may influence their motivations and attitudes toward animals and meat-eating, and their responses to these appeals. Thus, in a two-week intervention study (N = 427), we compared effects of two vegetarian appeals-one employing graphic negative imagery (footage of factory farming cruelty), the other employing positive imagery (footage from farmed animal sanctuaries)-on daily meat consumption and related affects and cognitions. We also examined several personality traits and other individual differences that may confer differential effects of these appeals. Although neither appeal significantly reduced meat consumption, both the positive and negative appeal increased intentions to eat less meat, and led to more negative affect and cognition when eating meat. Moreover, several individual difference variables moderated the effects of these appeals on actual and intended meat consumption. Findings are discussed in relation to the difficulty of changing morally troublesome behaviour, and the use of graphic appeals despite their unclear impact on behaviour.

Differential responses to ethical vegetarian appeals: Exploring the role of traits, beliefs, and motives.

OBJECTIVE: This research examines differential responses to ethical vegetarian appeals as a fuction of individuals' personalities. BACKGROUND: Ethical vegetarian appeals are persuasive messages promoting the adoption of a plant-based diet on moral grounds. Individuals may vary in their receptivity to such appeals, depending on their morally relevant traits (e.g., agreeableness), beliefs (e.g., speciesism), and motives (e.g., concerns about animal welfare). METHODS: We explored (Study 1, N = 907) and then attempted to confirm (Study 2, N = 980) differential responses to three vegetarian appeals-two highlighting moral concerns (animal welfare, the environment) and a third focusing on individual health (control condition). RESULTS: Both studies revealed several differential effects of our vegetarian appeals on the perceived effectiveness of the appeal and resultant intentions to reduce meat consumption. These mostly consisted of differences in receptivity to appeals focused on animal welfare. However, only one such effect observed in Study 1 was clearly replicated in Study 2: People who more strongly believed that eating meat was "normal" rated the vegetarian appeals focused on animal welfare as less effective. CONCLUSION: Ethical vegetarian appeals may elicit different responses from different people, particularly those focused on animal welfare, depending on how normative one believes meat-eating to be. Such insights can inform behavior change efforts in this area.

Transcriptional Regulators of Plant Adaptation to Heat Stress.

Heat stress (HS) is becoming an increasingly large problem for food security as global warming progresses. As sessile species, plants have evolved different mechanisms to cope with the disruption of cellular homeostasis, which can impede plant growth and development. Here, we summarize the mechanisms underlying transcriptional regulation mediated by transcription factors, epigenetic regulators, and regulatory RNAs in response to HS. Additionally, cellular activities for adaptation to HS are discussed, including maintenance of protein homeostasis through protein quality control machinery, and autophagy, as well as the regulation of ROS homeostasis via a ROS-scavenging system. Plant cells harmoniously regulate their activities to adapt to unfavorable environments. Lastly, we will discuss perspectives on future studies for improving urban agriculture by increasing crop resilience to HS.

Factors associated with vision loss in Black or Hispanic patients 1 year after standalone or combined Ahmed glaucoma valve surgery.

PURPOSE: To determine factors associated with vision loss 1 year after Ahmed glaucoma valve (AGV) surgery in Black or Hispanic patients, who bear disproportionate glaucoma burdens yet have been underrepresented in pivotal trials. METHODS: This retrospective study included Black or Hispanic patients who received AGVs standalone or combined with phacoemulsification and/or cyclodestructive lasers. Univariate and multivariate generalized estimating equations evaluated the effects of baseline, surgical, and postoperative factors on vision loss of two Snellen lines or more at the 1-year follow-up visit. The primary term was the hypertensive phase (HP), which signified an intraocular pressure (IOP) reading > 21 mmHg within the first 3 postoperative months after reduction below 22 in the first week, without other tube malfunction. RESULTS: Of 241 eyes from 186 patients, vision loss of ≥ 2 lines at the 1-year follow-up visit occurred in 21.6% (N = 52). Vision loss of ≥ 2 lines occurred in 52.5% of eyes at week 1, 36.9% of eyes at month 1, and 27.0% of eyes at month 3. Between 6 months and 1 year, vision loss frequencies stabilized. In the multivariate model, HP (OR = 4.71 (2.14, 10.38)), total quadrants with split fixation (1.47 (1.20, 1.81)), follow-up non-glaucomatous eye pathology (2.89 (1.44, 5.80)), and concurrent cataract surgery (0.42 (0.22, 0.82)) each met significance (p < 0.05). CONCLUSION: Post-AGV vision loss in the early follow-up period among Black or Hispanic patients was often transient. Hypertensive phase and split fixation each increased the odds of vision loss at 1 year, while concurrent cataract surgery decreased the odds.

Does openness/intellect predict sensitivity to the reward value of information?

A recent theory proposes that the personality trait openness/intellect is underpinned by differential sensitivity to the reward value of information. This theory draws on evidence that midbrain dopamine neurons respond to unpredicted information gain, mirroring their responses to unpredicted primary rewards. Using a choice task modelled on this seminal work (Experiment 1, N = 139, 69% female), we examined the relation between openness/intellect and willingness to pay for non-instrumental information (i.e., information with no secondary utility). We also assessed whether any such relation was moderated by the dopamine D2 receptor antagonist sulpiride (Experiment 2, N = 164, 100% male). Unexpectedly, most measures of openness/intellect were unrelated to costly information preference in both experiments, and some predicted a decreased willingness to incur a cost for information. In Experiment 2, this cost-dependent association between openness/intellect and information valuation appeared in the placebo condition but not under sulpiride. In addition, participants were more willing to pay for moderately costly information under sulpiride compared to placebo, consistent with a dopaminergic basis to information valuation. Potential refinements to the information valuation theory of openness/intellect are discussed in the light of these and other emerging findings.

Intracranial myxoid angiomatoid fibrous histiocytoma with "classic" histology and EWSR1:CREM fusion providing insight for reconciliation with intracranial myxoid mesenchymal tumors.

Angiomatoid fibrous histiocytoma (AFH) is an uncommon soft tissue neoplasm that can exhibit diverse morphological features, including myxoid change. Rarely, the tumor occurs intracranially and poses considerable diagnostic challenges to neuropathologists. This is compounded by a recently coined entity, referred to as intracranial myxoid mesenchymal tumor (IMMT). These tumors show significant overlaps with intracranial myxoid AFH from clinicopathological and molecular genetic viewpoints. We described an unusual intracranial tumor in a 30-year-old man. The tumor exhibited "classic" histological features of myxoid AFH and EWSR1:CREM fusion, a relatively novel variant of EWSR1:CREB family fusion, first identified in IMMT. We also performed a comprehensive literature review comparing the clinicopathological features of intracranial AFHs and IMMTs. Peritumoral lymphoplasmacytic cuffing appears to be the only morphological finding that is consistently absent in reported cases of IMMT while being present in most intracranial AFHs. Otherwise, both tumors showed considerable overlaps in clinical, histological, and immunohistochemical features and have a common molecular genetic signature of EWSR1:CREB family fusion, including EWSR1:CREM fusion. Our case appeared to be the first described EWSR1:CREM-fused intracranial tumor to show prominent peritumoral lymphoplasmacytic cuffing and myxoid change in addition to most of the other "classic" morphologic features of AFH. As such, while the current literature appears to be lacking when it comes to defining intracranial myxoid AFH and IMMT as separate nosological entities, they likely represent a morphological spectrum of a common entity characterized by EWSR1 rearrangement, akin to solitary fibrous tumors and hemangiopericytomas with the signal transducer and activator of transcription 6 gene (STAT6) rearrangement.

Who gives a veg? Relations between personality and Vegetarianism/Veganism.

With rates of vegetarianism and veganism (i.e., veg*nism) rising around the world, a growing body of research has begun to explore psychological characteristics that distinguish vegetarians and vegans from omnivores. However, relatively few studies have examined how veg*nism is related to differences in basic personality traits such as the "Big Five", with those that have tending to yield conflicting results. Moreover, none of these studies have examined personality at the lower levels of the personality trait hierarchy (i.e., aspects and facets of the Big Five). Thus, we sought to clarify how personality traits are related to veg*nism. In Study 1, comprising two samples (S1a: N = 797, S1b: N = 1534), participants were categorised as Veg*n vs Restricted-omnivore vs Omnivore, and completed personality questionnaires at the domain and aspect levels of the Big Five. In Study 2, participants (N = 562) completed both categorical and continuous measures of veg*nism, along with personality questionnaires at the domain, aspect, and facet levels. Across both studies, we found that people who scored higher on traits within the openness/intellect and agreeableness domains most consistently reported higher levels of veg*nism. Patterns in the data also suggested that the relation between personality and veg*nism might depend on the way veg*nism is measured. Theoretical and practical implications of these findings are discussed.

Adolescent Peer Influence on Eating Behaviors via Social Media: Scoping Review.

BACKGROUND: The influence of social media among adolescent peer groups can be a powerful change agent. OBJECTIVE: Our scoping review aimed to elucidate the ways in which social media use among adolescent peers influences eating behaviors. METHODS: A scoping review of the literature of articles published from journal inception to 2019 was performed by searching PubMed (ie, MEDLINE), Embase, CINAHL, PsycINFO, Web of Science, and other databases. The review was conducted in three steps: (1) identification of the research question and clarification of criteria using the population, intervention, comparison, and outcome (PICO) framework; (2) selection of articles from the literature using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines; and (3) charting and summarizing information from selected articles. PubMed's Medical Subject Headings (MeSH) and Embase's Emtree subject headings were reviewed along with specific keywords to construct a comprehensive search strategy. Subject headings and keywords were based on adolescent age groups, social media platforms, and eating behaviors. After screening 1387 peer-reviewed articles, 37 articles were assessed for eligibility. Participant age, gender, study location, social media channels utilized, user volume, and content themes related to findings were extracted from the articles. RESULTS: Six articles met the final inclusion criteria. A final sample size of 1225 adolescents (aged 10 to 19 years) from the United States, the United Kingdom, Sweden, Norway, Denmark, Portugal, Brazil, and Australia were included in controlled and qualitative studies. Instagram and Facebook were among the most popular social media platforms that influenced healthful eating behaviors (ie, fruit and vegetable intake) as well as unhealthful eating behaviors related to fast food advertising. Online forums served as accessible channels for eating disorder relapse prevention among youth. Social media influence converged around four central themes: (1) visual appeal, (2) content dissemination, (3) socialized digital connections, and (4) adolescent marketer influencers. CONCLUSIONS: Adolescent peer influence in social media environments spans the spectrum of healthy eating (ie, pathological) to eating disorders (ie, nonpathological). Strategic network-driven approaches should be considered for engaging adolescents in the promotion of positive dietary behaviors.

Glaucoma screening: where are we and where do we need to go?

PURPOSE OF REVIEW: Current recommendations for glaucoma screening are decidedly neutral. No studies have yet documented improved long-term outcomes for individuals who undergo glaucoma screening versus those who do not. Given the long duration that would be required to detect a benefit, future studies that may answer this question definitively are unlikely. Nevertheless, advances in artificial intelligence and telemedicine will lead to more effective screening at lower cost. With these new technologies, additional research is needed to determine the costs and benefits of screening for glaucoma. RECENT FINDINGS: Using optic disc photographs and/or optical coherence tomography, deep learning systems appear capable of diagnosing glaucoma more accurately than human graders. Eliminating the need for expert graders along with better technologies for remote imaging of the ocular fundus will allow for less expensive screening, which could enable screening of individuals with otherwise limited healthcare access. In India and China, where most glaucoma remains undiagnosed, glaucoma screening was recently found to be cost-effective. SUMMARY: Recent advances in artificial intelligence and telemedicine have the potential to increase the accuracy, reduce the costs, and extend the reach of screening. Further research into implementing these technologies in glaucoma screening is required.

Polymerizations Mediated by Well-Defined Rhodium Complexes.

This Minireview details the current state-of-the-art relating to (co)polymerizations mediated by well-defined RhI -ethynyl, vinyl, and aryl complexes. In particular, we focus on RhI species suitable for the (co)polymerization of phenylacetylenes, arylisocyanides, as well as propargyl esters and amides.

Retinal Nerve Fiber Layer Thickness in a Multiethnic Normal Asian Population: The Singapore Epidemiology of Eye Diseases Study.

PURPOSE: To describe variations in retinal nerve fiber layer (RNFL) thickness based on spectral-domain (SD) OCT in a multiethnic Asian population. DESIGN: Population-based, cross-sectional study. PARTICIPANTS: Ethnic Chinese, Malay, and Indian adults older than 48 years without glaucoma who were recruited from the Singapore Epidemiology of Eye Diseases Study. METHODS: All participants underwent standardized systemic and ocular examinations. Retinal nerve fiber layer thickness was measured using SD OCT. Participants with poor-quality scans were excluded. Linear regression models were used to investigate the associations of ocular and systemic factors with average RNFL thickness. Generalized estimating equation models were used to account for correlation between both eyes. MAIN OUTCOME MEASURE: Average RNFL thickness. RESULTS: Four thousand four hundred seventy-five participants (8178 eyes) consisting of 1371 Chinese, 1303 Malay, and 1801 Indian adults contributed to this analysis. Average RNFL thickness measured was 95.7±9.6 µm in Chinese participants, 94.9±10.6 µm in Malay participants, and 87.3±10.6 µm in Indian participants (P < 0.001). Multivariate analysis adjusted for age, gender, and ethnicity revealed a reduction in RNFL thickness with increased intraocular pressure and axial length (P < 0.001 for both), as well as a diagnosis of diabetes (P = 0.04); greater RNFL thickness was associated with increased disc area (P < 0.001), signal strength (P < 0.001), and low-density lipoprotein cholesterol (P = 0.02). When these significant variables were taken into account, the average RNFL thickness of Indian participants was significantly thinner compared with Chinese participants (7.45 µm thinner on average [95% confidence interval, 6.75-8.15 µm; P < 0.001]), whereas there was no significant difference in average RNFL thickness between Malay and Chinese participants (P = 0.15). CONCLUSIONS: Average and regional RNFL thicknesses were significantly thinner in Indian eyes compared with Chinese and Malay eyes. Results of the study highlight the need to acquire more refined normative data for the comparison of individual patients with others of similar ethnic background while accounting for ocular factors that could influence RNFL thickness. This in turn may improve the sensitivity and specificity of glaucoma detection.

Prevalence, determinants and association of unawareness of diabetes, hypertension and hypercholesterolemia with poor disease control in a multi-ethnic Asian population without cardiovascular disease.

BACKGROUND: To explore the prevalence and determinants of unawareness of diabetes, hypertension and hypercholesterolemia and its association with poor disease control in a multi-ethnic Asian population without cardiovascular disease (CVD). METHODS: We included 6904 Chinese, Malay and Indian individuals (mean age [SD] 58.2 [10.2] years; 52.6% female) with diabetes, hypertension and/or hypercholesterolemia from the cross-sectional population-based Singapore Epidemiology of Eye Diseases study (2004-2011). Diabetes was defined as random blood glucose ≥ 11.1 mmol/L or HbA1c > 6.5% or self-reported use of diabetes medication; hypertension as systolic blood pressure ≥ 140 mmHg or diastolic blood pressure ≥ 90 mmHg or self-reported use of anti-hypertensive treatment; and hypercholesterolemia as total cholesterol ≥ 6.2 mmol/L or self-reported use of lipid-lowering medications. Unawareness was based on participants' answers to the questions: "Did your medical practitioner ever tell you that you have diabetes/hypertension/high cholesterol?" The determinants of unawareness, and its association with poor disease control, were assessed using multivariable binary logistic regression models adjusted for known potential confounders. RESULTS: Of the 2380 (34.5%), 5386 (78.0%) and 3607 (52.2%) with diabetes, hypertension and hypercholesterolemia, respectively, unawareness rates were 30.7%, 43.1% and 40.9%, respectively. Having a higher BMI, particularly if obese, and Malay ethnicity were associated with greater unawareness of diabetes; Malay and Indian ethnicities and current smoking with greater unawareness of hypertension; and education ≤6 years, current smoking, and blue collar jobs or unemployment with greater unawareness of hypercholesterolemia (all P < 0.05). Lack of awareness of each condition was independently associated with poorer disease control in the case of hypertension and hypercholesterolemia, while the converse was true for diabetes (all P < 0.05). CONCLUSIONS: Unawareness of diabetes, hypertension, or hypercholesterolemia is high in Singapore, with risk factors varying across all three diseases, although Malay ethnicity is a consistent one. Unawareness was also associated with poor management for hypertension and hypercholesterolemia. Public health education and screening programs should target at-risk individuals, especially Malays, to reduce the likelihood of incident CVD.

Myopic optic disc changes and its role in glaucoma.

PURPOSE OF REVIEW: Optic nerve head (ONH) changes such as tilt and torsion are associated with the progression of myopia, and may in turn predispose toward glaucoma. At the same time, these ONH deformations also make the structural assessment for glaucoma difficult. Here, we review the mechanisms and changes to the myopic optic disc, and the advances in structural imaging to better evaluate the ONH in myopia. RECENT FINDINGS: The distance, depth, and angle between the optic disc and the deepest point of the elongated eyeball may be related to the degree and direction of optic disc tilt and torsion. It is hypothesized that as the eyeball grows axially, the disc is pulled toward its most protruded point. These ONH deformations in myopia are thought to induce strain on the lamina cribrosa and the axons passing through it. Recent studies have shown unique characteristics of the lamina cribrosa in myopia that may account for susceptibility toward glaucoma. New developments in imaging the ONH in myopia, including the use of optical coherence tomography-angiography may also further our understanding of the relationship between myopia and glaucoma. SUMMARY: Optic disc changes in myopia are secondary to the configuration of the posterior globe. These ONH deformations may predispose toward glaucoma, although the causative relationship between myopia and glaucoma remains to be further clarified.

Sudden death in patients with Ebstein anomaly.

Aims: Ventricular dysfunction or structural alteration of either ventricle is a well-established risk factor for sudden death (SD). Ebstein anomaly (EA) can present with both right and left heart abnormalities; however, predictors of SD have not been described. We therefore sought to characterize the incidence and risk factors of SD among a large cohort of patients with EA. Methods and results: All EA patients who underwent evaluation at a high-volume institution over a 4-decade period were retrospectively reviewed. Clinical variables, cardiovascular surgical procedure(s), and cause of death were recorded. Sudden death incidence from birth and following tricuspid valve (TV) surgery were estimated using the Kaplan-Meier method. Cox regression analysis was used to identify clinical and surgical predictors of SD. The cohort comprised of 968 patients [mean age 25.3 years, 41.5% male; 79.8% severe EA, 18.6% accessory pathway, 0.74% implantable cardioverter-defibrillator (ICD) placement]. The 10-, 50-, and 70-year cumulative incidences of SD from birth were 0.8%, 8.3%, and 14.6%, respectively. Prior ventricular tachycardia [hazard ratio (HR) 6.37, P < 0.001)], heart failure (HR 5.64, P < 0.001), TV surgery (HR 5.94, P < 0.001), syncope (HR 2.03, P = 0.019), pulmonic stenosis (HR 3.42, P = 0.001), and haemoglobin > 15 g/dL (HR 2.05, P = 0.026) were multivariable predictors of SD. In a similar subgroup analysis of patients who underwent TV surgery, all of the above factors except syncope were significantly associated with post-operative SD on multivariable analysis. Conclusion: Patients with EA are at significant risk for SD. Key clinical SD predictors identified can aid in risk stratification and potentially guide primary prevention ICD implantation.

A genome-wide association study of corneal astigmatism: The CREAM Consortium.

Purpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55×10-9. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3). Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.

The Effect of Testing Reliability on Visual Field Sensitivity in Normal Eyes: The Singapore Chinese Eye Study.

PURPOSE: To quantitatively determine how the reliability indices in standard automated perimetry (SAP) affect the global indices of visual field (VF) results in nonglaucomatous eyes. DESIGN: Observational, cross-sectional study. PARTICIPANTS: A total of 830 adults aged 40 to 80 years, without visual impairment, glaucoma, significant cataract, and major eye diseases, were selected from the population-based Singapore Chinese Eye Study (SCES). METHODS: Study participants underwent a comprehensive and standardized ocular examination and VF assessment using a Humphrey Field Analyzer II (Carl Zeiss Meditec, Inc., Dublin, CA). The effects of the test reliability, as indicated by the false-negative (FN), false-positive (FP), and fixation loss (FL) rates, on global indices, as indicated by the mean deviation (MD) and pattern standard deviation (PSD), were analyzed with multivariable regression models. MAIN OUTCOME MEASURES: The MD and PSD. RESULTS: A total of 1828 VF results from 1235 normal eyes of 830 study subjects were included in the analyses. The multivariable regression analyses adjusted for age, gender, best-corrected visual acuity, and test duration showed that at lower frequencies of false answers (<15%), FNs decreased the MD (ß [change in decibels {dB} per 5% increment in false answers] = -0.71 dB; P < 0.001), whereas FPs increased the MD (ß = 0.65 dB; P < 0.001). At higher frequencies (≥15%), the false answers influenced the MD to a greater extent, where the ß for the associations with FN and FP rates was -1.15 and 1.26 dB, respectively (both P < 0.001). We also found that when FN rate was <15%, higher FN rate increased the PSD (ß = 0.51 dB; P < 0.001), and the effect was slightly larger when FN rate was ≥15% (ß = 0.71 dB; P < 0.001). The effect of FPs on PSD was observed only when FP rate was <15% (ß = -0.22 dB; P < 0.001). The FL had no associations with the MD, and had minimal effects on the PSD. CONCLUSIONS: We quantified the effect of unreliable responses on the MD and PSD in SAP. Our study may allow clinicians to estimate how VF results are affected by varying degrees of unreliability, instead of relying on cutoff values for reliability indices.