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Mechanistic studies have suggested that antioxidants have beneficial effects on age-related macular degeneration (AMD). This study aimed to investigate the association between the types and sources of dietary vitamin and carotenoid intakes and AMD risk in China. A matched case–control study of 260 AMD cases and 260 matched controls was performed. The participants were interviewed for dietary information and potential confounders, and comprehensive ophthalmic examinations were performed. Conditional logistic models were used to estimate the odds ratio (OR) and 95 % confidence interval (CI) of specific vitamins and carotenoids and their main sources. When comparing the extreme quartiles, the ORs (95 % CI) were 0·30 (0·10, 0·88) for lutein and 0·28 (0·11, 0·74) for β -cryptoxanthin. The associations for other dietary vitamin and carotenoid intakes were generally weaker and non-significant. Higher intakes of spinach and egg, which are important sources of lutein, were associated with a reduced odds of AMD. ORs (95% CIs) comparing extreme categories were 0·42 (0·20, 0·88) for spinach and 0·52 (95% CI: 0·27, 0·98) for egg. Participants who were in the highest category of both egg intake and spinach intake had a much greater reduced odds of having AMD (OR: 0·23; 95% CI: 0·08, 0·71) than those in the lowest category of egg intake and spinach intake. In conclusion, a higher intake of lutein and lutein-rich foods was associated with a significantly decreased odds of AMD. These findings provide further evidence of the benefits of lutein and lutein-rich foods in the prevention of AMD. [ABSTRACT FROM AUTHOR]

Background Retinal disorders cause substantial visual burden globally. Accurate estimates of the vision loss due to retinal diseases are pivotal to inform optimal eye health care planning and allocation of medical resources. The purpose of this study is to describe the proportion of visual impairment and blindness caused by major retinal diseases in China. Methods A nationwide register-based study of vitreoretinal disease covering all 31 provinces (51 treating centres) of mainland China. A total of 28 320 adults diagnosed with retinal diseases were included. Participants underwent standardised ocular examinations, which included best-corrected visual acuity (BCVA), dilated-fundus assessments, and optical coherence tomography. Visual impairment and blindness are defined using BCVA according to the World Health Organization (WHO) (visual impairment: <20/63-≥20/400; blindness: <20/400) and the United States (visual impairment: <20/40-≥20/200; blindness: <20/200) definitions. The risk factors of vision loss were explored by logistic regression analyses. Results Based on the WHO definitions, the proportions for unilateral visual impairment and blindness were 46% and 18%, respectively, whereas those for bilateral visual impairment and blindness were 31% and 3.3%, respectively. Diabetic retinopathy (DR) accounts for the largest proportion of patients with visual impairment (unilateral visual impairment: 32%, bilateral visual impairment: 60%) and blindness (unilateral blindness: 35%; bilateral blindness: 64%). Other retinal diseases that contributed significantly to vision loss included age-related macular degeneration, myopic maculopathy, retinal vein occlusion, and rhegmatogenous retinal detachment and other macular diseases. Women (bilateral vision loss: P=0.011), aged patients (unilateral vision loss: 45-64 years: P<0.001, ≥65 years: P < 0.001; bilateral vision loss: 45-64 years: P = 0.003, ≥65 years: P < 0.001 (reference: 18-44 years)) and those from Midwest China (unilateral and bilateral vision loss: both P<0.001) were more likely to suffer from vision loss. Conclusions Retinal disorders cause substantial visual burden among patients with retinal diseases in China. DR, the predominant retinal disease, is accountable for the most prevalent visual disabilities. Better control of diabetes and scaled-up screenings are warranted to prevent DR. Specific attention should be paid to women, aged patients, and less developed regions. [ABSTRACT FROM AUTHOR]

Purpose: We systematically retrospected and analyzed the general characteristics of ophthalmic drug clinical trials (CTs) registered in China from January 2014 to December 2021. Methods: Data were retrieved from the Drug Trial Registration and Information Publication Platform and then standardized and statistically classified using bibliometric analysis. Results: We identified 201 drug CTs for eye diseases, including 24 international multicenter trials. The number of drug CTs for eye diseases has considerably increased since 2017 in parallel with new policies to encourage innovation in drugs and medical devices in China. The drug types consist of biologicals (48.26%), chemicals (45.77%), and traditional Chinese medicine/natural medicines (5.97%). The main indications were age-related macular degeneration (AMD; n = 47, 23.38%), macular edema (n = 32, 15.92%), and diabetic retinopathy (n = 19, 9.45%). The trials included those in phase I (n = 67, 33.33%), phase II (n = 33, 16.42%), and phase III (n = 72, 35.82%). The phase I trials comprised 24 innovative drug treatments for AMD and 6 novel drug treatments for neuromyelitis optica spectrum disorders, with 39 biologicals and 27 chemicals. The trials mostly followed a randomized (84.08%) or masked (67.16%) design, with 90.37% of the latter being double-masked trials. Conclusion: Research and development of ophthalmic drugs have substantially increased in recent years and are influenced by regulatory policies. Among these drugs, biologicals for AMD are the most prevalent, followed by biologicals for macular edema. Randomized double-masked research designs are often used and represent high-quality evidence. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the predictive clinical role of neurofilament light chain (NfL), amyloid-β (Aβ), glial fibrillary acidic protein (GFAP), and phosphorylated tau at threonine 181 (p-tau181) proteins in human aqueous humor (AH) and quantify the retinal macular microvascular parameters by optical coherence tomography angiography (OCTA) as early diagnostic markers of Alzheimer's disease (AD). Methods: This prospective, single-site, cross-sectional, cohort study enrolled 55 participants, including 38 patients with neovascular age-related macular degeneration (nAMD) and 17 individuals with senile cataracts. The singlemolecule array platform was used to quantitatively measure the levels of AH NfL, Aβ40, Aβ42, GFAP, and p-tau181 proteins in AH. The mini-mental state examination (MMSE) score was used to assess the global cognitive function. OCTA scan with 6 × 6 mm macular area was used to quantify the retinal thickness and microvascular densities of superficial retinal capillary plexuses and deep retinal capillary plexuses. Results: NfL, Aβ40, Aβ42, GFAP, and p-tau181 were detected in all AH samples by Simoa platform. Individuals with cataract had higher concentrations of NfL and p-tau181 but lower Aβ40 and Aβ42 and similar GFAP compared to those with nAMD. Lower MMSE scores showed a negative correlation with NfL concentration of AH not only in the nAMD group (p = 0.043), but also in the cataract group (p = 0.032). However, the MMSE scores were not associated with the levels of Aβ40, Aβ42, GFAP, or p-Tau181. Further analysis found that the Aβ40 and Aβ42 concentrations showed a strong positive correlation (p < 0.0001). In addition, the NfL concentration showed a mild positive correlation with that of GFAP in the cataract group (p = 0.021). Although it has not reached statistical significance, there was a correlation between the levels of NfL and Aβ42 in the nAMD group (p = 0.051). Moreover, the macular superficial vessel density values had a negative correlation with the concentration of NfL (p = 0.004) but a positive correlation with MMSE scores (p = 0.045). The macular deep vessel density values were negatively correlated with the concentration of p-tau181 (p = 0.031) and positively correlated with MMSE scores (p = 0.020). Conclusion: The examination of AD-related biomarkers in human AH and OCTA may improve the ocular-based AD detection methods and contribute to forestalling the progression of preclinical AD. [ABSTRACT FROM AUTHOR]

Objective: In this study, the regional homogeneity (ReHo) method was used to investigate levels of cerebral homogeneity in individuals with age-related macular degeneration (AMD), with the aim of exploring whether these measures are associated with clinical characteristics. Materials and Methods: Patients with AMD and healthy controls attending the First Affiliated Hospital of Nanchang University were invited to participate. Resting state functional magnetic resonance images were recorded in each participant and levels of synchronous neural activity were evaluated using ReHo. Receiver operating characteristic (ROC) curves were used to evaluate the sensitivity and specificity of this method. Results: Eighteen patients with AMD (9 males and 9 females) and 15 healthy controls (HCs) were recruited. The two groups were approximately matched in age, gender and weight. Compared with controls, the ReHo values were significantly higher in the AMD group at the limbic lobe and parahippocampal gyrus, and were significantly reduced at the cingulate gyrus, superior frontal gyrus, middle frontal gyrus, inferior parietal lobule, and precentral gyrus. Mean ReHo values at the cingulate gyrus and the superior frontal gyrus were negatively correlated with clinical symptoms. Conclusion: Brain neural homogeneity dysfunction is a manifestation of visual pathways in AMD patients, and may be one of the pathological mechanisms of chronic vision loss, anxiety and depression in AMD patients. In addition, the ReHo data may be useful for early screening for AMD. [ABSTRACT FROM AUTHOR]

Background: To investigate the long-term surgical outcomes and prognostic factors of foveal detachment (FD) in pathological myopia.Methods: This retrospective observational study included 59 patients with FD (61 eyes) who underwent pars plana vitrectomy at Shanghai General Hospital between June 2017 and July 2018 with follow-up for at least 24 months. Comprehensive ophthalmic examinations, including best-corrected visual acuity (BCVA) and swept-source optical coherence tomography, were assessed. Preoperative myopic maculopathy was evaluated according to the ATN classification.Results: FD completely resolved in 59 of 61 eyes (96.7%). Mean duration of retinal reattachment was 12.10 ± 8.10 months. Mean logMAR BCVA improved from 1.34 ± 0.52 to 0.83 ± 0.43 at 24 months postoperatively (P < 0.001). Secondary macular hole occurred in 8 eyes (13.1%) with a mean period of 3.4 ± 4.1 weeks after primary surgery. In regression analyses, baseline myopic atrophy maculopathy (MAM) (B = 0.213, P = 0.005) and vitreomacular traction (VMT) (B = 0.292, P = 0.007) were adverse prognostic factors for postoperative BCVA. A more severe MAM revealed a delay in retinal reattachment (B = 5.670, P = 0.002). FD eyes with VMT (OR = 1.309, P = 0.003) or outer lamellar macular hole (O-LMH) (OR = 1.369, P < 0.001) were risk factors for postoperative secondary macular hole.Conclusions: Vitrectomy was effective in the long-term for treating FD. Careful consideration is needed for those with VMT or O-LMH due to the high risk of secondary macular hole after vitrectomy. FD eyes with more severe MAM tended to have poorer postoperative BCVA and extended periods of retinal reattachment. [ABSTRACT FROM AUTHOR]

Background: Conbercept, as a novel vascular endothelial growth factor (VEGF) inhibitor, was approved for the treatment of neovascular age-related macular degeneration (nAMD) in China. Objective: This study aimed to compare the efficacy and safety between conbercept and ranibizumab in patients with nAMD. Methods: Several databases (PubMed, Web of Science, China National Knowledge Infrastructure, and WANFANG) were searched for the results of studies describing conbercept and ranibizumab for the treatment of nAMD. Sixteen randomized controlled trials including 1,224 eyes met our search criteria and were assessed. Results: Conbercept and ranibizumab had comparable effects on improving visual acuity at 3 months (standardized mean difference [SMD]: −0.19; 95% confidence interval [CI]: −0.46 to 0.08; p = 0.17) and 6–12 months (SMD: −0.01; 95% CI: −0.20 to 0.18; p = 0.90). At 3 months and 6–12 months, the differences in the change of central macular thickness in conbercept and ranibizumab groups were 1.06 μm (95% CI: −3.52 to 5.64; p = 0.65) and −0.12 μm (95% CI: −9.26 to 9.02; p = 0.98). In the short term, there was no significant difference between the 2 groups with respect to ocular adverse events (odds ratio [OR]: 0.86; 95% CI: 0.46–1.61; p = 0.63). No significant differences were observed in the recovery rate of choroidal neovascularization leakage between conbercept and ranibizumab at both 3 months (OR: 1.49; 95% CI: 0.83–2.68; p = 0.18) and 6–12 months (OR: 0.66; 95% CI: 0.18–2.43; p = 0.53). There were significant differences between conbercept and ranibizumab in terms of decreasing intraocular pressure (weighted mean difference [WMD]: −1.74; 95% CI: −2.28 to −1.20; p < 0.00001), the plasma VEGF level (WMD: −21.49; 95% CI: −26.28 to −16.70; p < 0.00001), and the C-reactive protein level (WMD: −1.16; 95% CI: −1.45 to −0.87; p < 0.00001) in the short term. Conclusion: Conbercept was similar to ranibizumab in terms of efficacy and safety for the treatment of nAMD in China. Further studies with longer term observation are needed to support this conclusion. [ABSTRACT FROM AUTHOR]

Aim. To investigate the incidence and clinical characteristics of paracentral acute middle maculopathy (PAMM) and its relationship with prominent middle limiting membrane (p-MLM) sign in eyes with retinal artery occlusion (RAO) or retinal vein occlusion (RVO) in a Chinese clinical setting. Methods. In this retrospective observational study from January 2015 to May 2020, multimodal imaging data of 807 eyes including 555 consecutive patients with RVO or 252 consecutive patients with RAO were reviewed. All patients were scanned using the spectrum-domain optical coherence tomography (OCT), and some of them underwent color fundus photography, fundus fluorescence angiography, en face OCT, and OCT angiography. Results. PAMM was detected in 49 eyes of 49 RAO patients and 29 eyes of 29 RVO patients. The mean ages at presentation were 64.49 ± 13.90 years and 54.00 ± 18.48 years in RAO and RVO patients (P = 0.006), respectively. Eyes with RAO were more prone to develop PAMM (19.44% [49/252] vs. 5.23% [29/555]; P < 0.001). Of the 78 eyes with PAMM, 24 eyes (7 eyes with RVO and 17 eyes with RAO) were found with p-MLM sign. An interesting phenomenon that had been overlooked before was that the hyperreflective line of the p-MLM sign was usually continuous, regardless of the type of PAMM lesion. Conclusions. This series is the largest to date to describe the clinical characteristics of PAMM and p-MLM sign in Chinese patients. The incidence of PAMM and p-MLM sign in patients with RAO was relatively higher than that in patients with RVO. These signs alone probably represent milder ischemia and prompt us to carry out a comprehensive and meticulous examination to prevent the further development of the disease. In addition, the hyperreflective line of the p-MLM sign was usually continuous, which could support the totally venous nature of the retinal deep capillary plexus to some extent. [ABSTRACT FROM AUTHOR]

Background: Neovascular age-related macular degeneration (nAMD) is the most common cause of irreversible vision loss and blindness among the older people aged 50 and over. Although anti-vascular endothelial growth factor (anti-VEGF) therapies have resulted in improving patient outcomes, there are limitations associated with these treatments. In China, traditional Chinese medicine (TCM) has been used to treat eye diseases for more than 2000 years. Previous studies have shown that TCM may be beneficial for nAMD patients. However, explicit evidence has not been obtained. The purpose of the present trial is to examine the efficacy and safety of the Mingjing granule, a compound Chinese herbal medicine, for nAMD patients.Methods/design: This is a double-blind, placebo-controlled, randomized trial of Mingjing granule as an add-on to intravitreous ranibizumab for nAMD. One hundred eighty nAMD patients from six hospitals in China will be enrolled according to the inclusion and exclusion criteria and randomly allocated into two groups, 90 in each. All participants will receive a 24-week treatment and then be followed up for another 24 weeks. The primary outcome is the mean change of best-corrected visual acuity at week 24 and 48 as compared to the baseline. The secondary outcomes include mean change in central retinal thickness, area of retinal hemorrhage and exudation, and TCM syndrome score, mean number of intravitreal ranibizumab injection, and total cost of the treatment. Indexes of safety include blood regular test, urine regular test, liver function test, renal function test, and electrocardiogram from baseline to weeks 24 and 48. Qualitative control and some standard operating processes will be formed throughout the trial. Any ocular or systemic adverse events will be treated suitably, and related data will be recorded accurately and completely in the case report form.Discussion: Based on previous empirical and animal laboratory studies, this study will address the question of whether Mingjing granule could contribute to improving efficacy, safety, and efficiency with need for fewer intravitreal injections of anti-VEGF, improving compliance and visual outcomes in the management of persons with nAMD.Trial Registration: Chinese Clinical Trial Registry ( http://www.chictr.org.cn ), ChiCTR2000035990 . Registered on 21 August 2020. [ABSTRACT FROM AUTHOR]

Purpose: This study was conducted to evaluate the prevalence and related factors of peripheral and posterior pole retinal changes in highly myopic Chinese children and adolescents., Methods: A hospital-based cross-sectional study was designed. A total of 120 subjects with high myopia were recruited and underwent cycloplegic refraction, dilated fundus examination, and optical coherence tomography. A statistical analysis was performed to evaluate the factors associated with peripheral and posterior pole retinal changes., Results: The mean spherical equivalent refraction of the subjects was - 8.74 ± 2.86 D, and the mean age was 11.45 ± 3.02 years. Snowflake retinal degeneration (27.5%), white without pressure (27.5%), snail-track degeneration (15%), and lattice degeneration (15%) were the most common peripheral retinal changes, while tessellated fundus (84.17%), optic nerve crescents (78.3%), and posterior staphyloma (11.7%) were the most common posterior changes. Subjects with peripheral changes were significantly older, with thinner choroids (OR = 1.194, 95% CI: 1.045-1.363, p = 0.009; OR = 0.993, 95% CI: 0.987-0.999, p = 0.022, respectively). Optic nerve crescents, tessellated fundus, and posterior scleral staphyloma were all associated with thin choroids (OR = 0.990, 95% CI: 0.983-0.997, p = 0.008; OR = 0.983, 95% CI: 0.974-0.991, p < 0.001; OR = 0.974, 95% CI: 0.960-0.987, p < 0.001, respectively)., Conclusion: A substantial proportion of the subjects had peripheral and posterior retinal changes. An increased risk of retinal changes was associated with high degrees of myopia, long axial lengths, thin choroids, and older ages among 7-16-year-old individuals., (© 2024. The Author(s).)

Toll-like receptor 4 (rs4986790, rs4986791) single nucleotide polymorphisms (SNPs) have been shown to be associated with age-related macular degeneration (AMD), but the results are still inconclusive. The present meta-analysis was conducted to evaluate the association between SNPs of TLR4 gene and AMD susceptibility. Relevant articles were obtained through computer retrieval of Pubmed, Embase, Chinese National Knowledge Infrastructure and China wanfang database. Eligible articles were selected according to the inclusion and exclusion criteria, and quality scores were made for them by NOS-scale. Relevant data were extracted for meta-analysis. The combined OR value and 95% confidence interval were used to evaluate the strength of the correlation. Funnel plot and Egger's regression were used to evaluate publication bias. All analyses were performed using STATA 11.0 software. A total of nine case-control studies were included in this meta-analysis. After combination, an significant association was found between rs4986790 polymorphism and AMD susceptibility in heterozygote model (AG vs. AA, OR = 1.400, 95%CI = 1.049–1.867, P =.022) and dominant model (GG+AG vs. AA, OR = 1.365, 95%CI = 1.028–1.813, P =.032). There was no association found between rs4986791 polymorphism and AMD susceptibility in all genetic models (all P >.05). Funnel plot and Egger's regression analysis showed no publication bias existed in this study. Meta-analysis suggested that there is an association between TLR4 gene rs4986790 polymorphism and AMD susceptibility, while no association between rs4986791 polymorphism and AMD susceptibility. [ABSTRACT FROM AUTHOR]

Purpose. To evaluate the prevalence and causes of visual impairment in a group of community people with type 2 diabetes mellitus (T2DM) in Northeast China. Methods. Population-based cross-sectional survey. Patients diagnosed with T2DM residing in 15 communities in Fushun, Northeast China, were enrolled between July 2012 and May 2013. All participants underwent an extensive and standardized eye examination (visual acuity testing, slit-lamp, and fundus examination). Low vision was defined as presenting VA of better-seeing eye <20/60 and ≥20/400, and blindness was defined as VA <20/400, according to the World Health Organization (WHO) definitions. The primary causes of blindness and low vision were assessed by senior ophthalmologists. Results. Visual acuity measurements were available for 1998 (89.8%) of 2224 subjects in the study. The prevalence of bilateral blindness and low vision defined was 0.90% and 10.81%. Uncorrected refractive error was the first leading cause of low vision (75.0%) and blindness (38.9%). After correcting the refractive error, the first leading cause of low vision was cataract (44.4%), followed by diabetic retinopathy (29.6%) and myopic maculopathy (18.5%), while the first leading cause of blindness was proliferative DR (45.4%), followed by cataract (36.4%) and myopic maculopathy (18.2%). Conclusions. This study suggested a high prevalence of low vision and blindness in this study cohort. Uncorrected refractive error and cataract remain the leading cause of visual impairment, but the major challenge is the early diagnosis and intervention of diabetic retinopathy to reduce diabetes-related blindness. [ABSTRACT FROM AUTHOR]

Background: Age-related macular degeneration (AMD) is currently the leading cause of irreversible visual impairment in developed countries and seriously affects the health-related quality of life (HRQoL) of patients. However, the majority of the research in this area employs cross-sectional design; longitudinal research investigating changes in HRQoL and influencing factors is limited. The aim of this study was to use a longitudinal study design to investigate descriptive trends in HRQoL and their predictive factors in Chinese AMD patients receiving treatment with vascular endothelial growth factor inhibitors (anti-VEGF) at baseline and follow-ups.Methods: In a sample of 142 AMD patients from the outpatient clinic of the Southwest Eye Hospital, a tertiary major hospital in the southwest of China, each patient completed a self-administered questionnaire assessing demographics, clinical features, HRQoL, depression, anxiety, coping style, social support, and self-efficacy at baseline and at 1-, 3-, 6-, and 12-month follow-up appointments.Results: The total score of HRQoL fluctuated, with the highest score at the 6-month follow-up and the lowest score at baseline. Multivariable linear regression showed the predictors of HRQoL are best-corrected visual acuity (BCVA), income level, depression, and visual acuity (VA) of the treated eye at baseline; BCVA, income, and depression at the 1-month follow-up; duration, area of residence, gender, VA of the treated eye, BCVA, income, anxiety, social support, self-efficacy, and depression at the 3-month follow-up; gender, BCVA, income, anxiety, social support, self-efficacy, depression, negative coping, and positive coping at the 6-month follow-up; and BCVA, social support, self-efficacy, and depression at the 12-month follow-up.Conclusions: The HRQoL and its predictive factors in Chinese AMD patients receiving anti-VEGF treatment fluctuated over time. It is suggested that medical staff should get more information when planning precise care for improving patients' HRQoL. [ABSTRACT FROM AUTHOR]

Purpose: Retinoid isomerohydrolase RPE65 has received a tremendous amount of attention due to successful clinical gene therapy for Leber congenital amaurosis (LCA) cases caused by RPE65 mutations. This study aimed to evaluate the frequency of RPE65 mutations and the associated phenotypes based on exome sequencing. Methods: RPE65 variants were collected from exome sequencing data obtained from 2133 probands with different forms of hereditary retinal degeneration (HRD). Clinical data were collected from probands with homozygous or compound heterozygous variants in RPE65. Associated phenotypes were characterized based on clinical data. Results: Biallelic RPE65 mutations were detected in 18 families, including eight with LCA, five with early‐onset retinal degeneration, four with fundus albipunctatus‐like (FA‐like) changes and one with high hyperopia. These cases accounted for approximately 3.0% (8/269) of LCA and 0.8% (18/2133) of HRD cases. An almost identical FA‐like change was identified in seven patients from four unrelated families with RPE65 mutations. Classification of mutations suggested that FA‐like changes may be associated with biallelic missense mutations in RPE65. Conclusion: Fundus albipunctatus‐like (FA‐like) change, a common characteristic fundus sign in RPE65 biallelic mutations, was unexpected but was confirmed by the finding that affected siblings from different families exhibited similar phenotypes. These results enrich our understanding of RPE65 mutation frequencies and their associated phenotypic variants. [ABSTRACT FROM AUTHOR]

Importance: Detection of early onset neovascular age‐related macular degeneration (AMD) is critical to protecting vision. Background: To describe the development and validation of a deep‐learning algorithm (DLA) for the detection of neovascular age‐related macular degeneration. Design: Development and validation of a DLA using retrospective datasets. Participants: We developed and trained the DLA using 56 113 retinal images and an additional 86 162 images from an independent dataset to externally validate the DLA. All images were non‐stereoscopic and retrospectively collected. Methods: The internal validation dataset was derived from real‐world clinical settings in China. Gold standard grading was assigned when consensus was reached by three individual ophthalmologists. The DLA classified 31 247 images as gradable and 24 866 as ungradable (poor quality or poor field definition). These ungradable images were used to create a classification model for image quality. Efficiency and diagnostic accuracy were tested using 86 162 images derived from the Melbourne Collaborative Cohort Study. Neovascular AMD and/or ungradable outcome in one or both eyes was considered referable. Main Outcome Measures: Area under the receiver operating characteristic curve (AUC), sensitivity and specificity. Results: In the internal validation dataset, the AUC, sensitivity and specificity of the DLA for neovascular AMD was 0.995, 96.7%, 96.4%, respectively. Testing against the independent external dataset achieved an AUC, sensitivity and specificity of 0.967, 100% and 93.4%, respectively. More than 60% of false positive cases displayed other macular pathologies. Amongst the false negative cases (internal validation dataset only), over half (57.2%) proved to be undetected detachment of the neurosensory retina or RPE layer. Conclusions and Relevance: This DLA shows robust performance for the detection of neovascular AMD amongst retinal images from a multi‐ethnic sample and under different imaging protocols. Further research is warranted to investigate where this technology could be best utilized within screening and research settings. [ABSTRACT FROM AUTHOR]

Purpose. To compare the functional and anatomical outcomes of one dose and three loading doses followed by the pro re nata (PRN) regimen in Chinese neovascular age-related macular degeneration (nvAMD) (including polypoidal choroidal vasculopathy (PCV)) patients. Methods. In this multicenter, prospective, open-label, controlled, 12-month study (ClinicalTrials.gov: NCT02810808), patients were randomized (1 : 1) to 1 dose + PRN (PRN group) or 3 loading doses + PRN (LD group) using intravitreal ranibizumab treatment. Best-corrected visual acuity (BCVA) and central retinal thickness (CRT) were evaluated. The main outcome was the change in BCVA. The noninferiority limit was 5 letters. Results. Forty-five patients in the PRN group and 49 patients in the LD group finished 12-month follow-up. Each group included 4 PCV patients. The mean change in BCVA from baseline was 7.8 letters in the PRN group, compared with 10.9 letters in the LD group (P=0.344). There were no significant differences between two groups in the mean change of CRT (−159.3 μm vs. −120.5 μm) at month 12. The mean number of injections during the 12-month follow-up was 6.0 in the PRN group and 6.8 in the LD group. The proportion of patients who gained an improvement in visual acuity by 15 or more letters was 28.9% in the PRN group and 44.9% in the LD group (P=0.066). Conclusion. One dose + PRN showed noninferior visual gains than 3 loading doses + PRN regimen using ranibizumab in Chinese nvAMD and PCV patients. Number of injections in the PRN group was similar as that in the LD group but remained a potential risk of vision instability during one-year follow-up using OCT-guided retreatment criteria. This trial is registered with NCT02810808. [ABSTRACT FROM AUTHOR]

Mutations in the gene BEST1 usually cause bestrophinopathies, such as the rare progressive diseases Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). This study aimed to investigate the clinical characteristics of patients with BVMD or ARB carrying BEST1 mutations. A total of 12 probands including 9 patients with a clinical diagnosis of BVMD and 3 patients with a clinical diagnosis of ARB were recruited for genetics analysis. All patients underwent detailed ophthalmic examination. All coding exons of the BEST1 gene were screened by PCR-based DNA sequencing. Programs of PolyPhen-2, SIFT, and MutationTaster were used to analyze the potential pathogenicity of the mutations in BEST1. In the 9 unrelated patients with BVMD, one heterozygous BEST1 mutation was revealed in 8 patients and two compound heterozygous mutations in 1 patient. In the 3 unrelated patients with ARB, two compound heterozygous mutations were revealed in 2 patients and three compound heterozygous mutations in 1 patient. Molecular analyses identified a total of 15 mutations, including 3 novel mutations (c.424A>G p.S142G, c.436G>A p.A146T, and c.155T>C p.L52P). Antivascular endothelial growth factor (VEGF) drugs were given to two affected eyes, especially those also exhibiting choroidal neovascularization (CNV), and no serious adverse events occurred. Our study indicates that there is wide genotypic and phenotypic variability in patients with BVMD or ARB in China. The screening of BEST1 gene is significant for the precise diagnosis of BVMD and ARB. [ABSTRACT FROM AUTHOR]

Purpose: To assess the prevalence of depression in the general population of Beijing and its association with ocular diseases. Methods: The population-based Beijing Eye Study was conducted in a rural and an urban region of Greater Beijing. The study participants underwent a detailed ophthalmological examination and an interview including questions on the socioeconomic background. Depressive symptoms were evaluated using a Chinese depression scale adapted from Zung´s self-rated depression scale. The total score of depression symptoms was 80. Depression was defined as having a depression score >44. Results: Out of 3468 study participants, 3267 (94.2%) individuals (1419 men) with an age of 64.5±9.7 years (range: 50–93 years) participated in the interview and answered all questions on depression. The mean depression score was 25.0±5.9 (median: 23.3; range:20–64). Depression (depression score >44) was present in 66 individuals (2.0%; 95% confidence interval (CI): 1.5, 2.5), and 5 individuals (0.2%; 95%CI: 0.02,0.3) had a depression score ≥59. In multivariate regression, analysis, a higher depression score was associated (regression coefficient r2: 0.22) with a higher number of days with dry eye feeling (P<0.001; standardized regression coefficient beta: 0.09; non-standardized regression coefficient B: 0.20; 95%CI: 0.12,0.29) and shorter corneal curvature radius (P = 0.03;beta:-0.04; B:1.01; 95%CI: -1.90,-0.12), after adjusting for age, gender, region of habitation, body mass index, cognitive function score, life quality score and blood concentration of triglycerides. Adding age-related macular degeneration (P = 0.10), glaucoma (P = 0.77), diabetic retinopathy (P = 0.77), nuclear cataract (P = 0.35), cortical cataract (P = 0.58) or posterior subcapsular cataract (P = 0.28) as single parameters to the model revealed no significant correlation with the depression score. Lower best corrected visual acuity showed a marginal significant association (P = 0.05; beta: 0.04; B: 1.56; 95%CI: -0.01, 3.13). Conclusions: Dry eye feeling was the only common ocular disorder associated with an increased depression score, while the occurrence of age-related macular degeneration, any type of glaucoma, diabetic retinopathy, any type of cataract and keratoconus were not significantly associated with an increased depression score. Lower visual acuity was marginally associated. The prevalence of depression in the population aged 50+ years in Greater Beijing was 2.0% (96%CI: 1.5, 2.5). [ABSTRACT FROM AUTHOR]

Purpose This case-control study aimed to explore the association between prior coronary heart disease ( CHD) and neovascular age-related macular degeneration (AMD) using a population-based data set in Taiwan. Methods We analysed data sourced from the Taiwan Longitudinal Health Insurance Database 2005. The study consisted of 1970 patients with neovascular AMD as cases and 5910 age- and sex-matched controls. We performed a conditional logistic regression to examine the odds ratio ( OR) and its corresponding 95% confidence interval ( CI) for previously diagnosed CHD between cases and controls. Results Of the 7880 sampled patients, 24.5% had a prior history of CHD; CHD was found in 25.7% of cases and in 22.7% of controls (p = 0.008). The conditional logistic regression analysis indicated that the OR for prior CHD for cases was 1.17 [95% confidence interval ( CI): 1.04-1.32] compared to the controls. However, after adjusting for patient's monthly income, geographic location, urbanization level, age, hyperlipidaemia, diabetes and hypertension, we failed to observe an association between prior CHD and AMD ( OR = 1.03, 95% CI = 0.91-1.17). Additionally, the medical comorbidities of hyperlipidaemia (adjusted OR = 1.29, 95% CI = 1.15-1.45), hypertension (adjusted OR = 1.20, 95% CI = 1.05-1.37) and diabetes (adjusted OR = 1.47, 95% CI = 1.32-1.65) were significantly associated with AMD. Conclusions This study presented no significant difference in the odds of prior CHD between patients with AMD and those without AMD after adjusting for comorbidities and sociodemographic characteristics in a Chinese population. [ABSTRACT FROM AUTHOR]

Objective. The aim of the study was to investigate the prevalence and the risk factors of maculopathy detected by optical coherence tomography (OCT) in a Chinese population with diabetes or prediabetes. Methods. 8,155 people were randomly selected to participate in the 2011 annual Health Examination Survey in Beijing. A 75 g oral glucose tolerance test (OGTT) was tested in 3760 subjects with fasting plasma glucose (FPG) ≥ 5.6 mmol/L. Of 3,760 subjects, 583 were also randomly selected to take OCT. Results. In this study population, 21 (3.95%) patients had maculopathy. Eight patients had diabetes macular edema (DME) and the prevalence was 6.72% in diabetes patients and 1.51% in all subjects. Eleven patients had age-related macular degeneration (AMD) and the prevalence was 3.36% in diabetes patients and 2.07% in all subjects. Logistic regression model confirmed that elevated HbA1c (p<0.001) and systolic pressure (p<0.05) made significant contributions to DME. Stepwise regression analysis revealed that HbA1c and blood creatinine were significantly independent influence factors for central subfield thickness (CST) (p=0.01, p<0.001). Conclusions. High prevalence of maculopathy was found in patients with diabetes in a Chinese population. Maculopathy poses a significant public health problem in China with rapid rising trend of diabetes. [ABSTRACT FROM AUTHOR]

Background: To evaluate the prevalence and associated health and lifestyle factors of myopic maculopathy (MM) in a northern Chinese industrial city., Methods: The cross-sectional Kailuan Eye Study included subjects who participated in the longitudinal Kailuan Study in 2016. Ophthalmologic and general examinations were performed on all the participants. MM was graded based on fundus photographs using the International Photographic Classification and Grading System. The prevalence of MM was evaluated. Univariate and multiple logistic regression were adopted to evaluated risk factors of MM., Results: The study included 8330 participants with gradable fundus photographs for MM and ocular biometry data. The prevalence of MM was 1.11% (93/8330; 95% confidence interval [CI] 0.89-1.33%). Diffuse chorioretinal atrophy, patchy chorioretinal atrophy, macular atrophy, and plus lesions were observed in 72 (0.9%), 15 (0.2%), 6 (0.007%), and 32 eyes (0.4%), respectively. MM was more common in eyes with longer axial length (OR 4.517; 95%CI 3.273 to 6.235) and in participants with hypertension (OR 3.460; 95%CI 1.152 to 10.391), and older age (OR 1.084; 95%CI 1.036 to 1.134)., Conclusions: The MM was present in 1.11% of the northern Chinese individuals 21 years or older and the associate factors include longer axial length, older age, and hypertension., (© 2023. The Author(s).)

Purpose. To observe the effect of intravitreal ranibizumab injection on wet age-related macular degeneration (wAMD) over 5 years in Chinese patients. Methods. Thirty-seven patients who were diagnosed with wAMD in our hospital from June 2007 to June 2014 were retrospectively reviewed. The PRN regimen and the treatment and extend regimen were applied. Best corrected visual acuity (BCVA), number of ranibizumab injections, and changes in the choroidal neovascularization (CNV) lesion over 5 years were analyzed. Results. The mean BCVA measured by the ETDRS chart at baseline was 47.4 and 5 years after the treatment it was 34.89 letters, which was significantly different (p=0.013). Fourteen eyes (37.8%) had improved visual acuity after 5 years. The number of injections in 5 years was 11.53, and most of the injections were in the first two years. Seventeen (45.9%) cases developed fibrous lesions, and 2 (5.4%) cases had atrophic lesions after 5 years. The fibrosis/atrophy was significantly correlated with the injection numbers (Pearson, r=0.663, and p=0.000). Conclusion. Most of the patients can maintain visual acuity treated by ranibizumab in the first 3 years. After 5 years, some patients can still improve or maintain visual acuity. Fibrous scarring of the lesion is the main reason for a decrease in vision of wAMD patients. [ABSTRACT FROM AUTHOR]

Purpose. To assess the cost-effectiveness of bevacizumab compared to ranibizumab, verteporfin photodynamic therapy (PDT), and usual care for the treatment of age-related macular degeneration (AMD) in China. Methods. A Markov model was developed according to patient visual acuity (VA) in the better-seeing eye (Snellen scale). Four cohorts of patients were treated with one of the following therapies: bevacizumab, ranibizumab, PDT, or usual care. Clinical data related to treatments were obtained from published randomized clinical trials. Direct medical costs and resource utilization in the Chinese health care setting were taken into account. Health and economic outcomes were evaluated over a lifetime horizon. Sensitivity analyses were performed. Results. Treatment with ranibizumab provided the greatest gains in quality-adjusted life-years (QALYs). The cost per marginal QALY gained with bevacizumab over usual care was $1,258, $3,803, and $2,066 for the predominantly classic, minimally classic, and occult lesions, respectively. One-way sensitivity analysis showed considerably influential factors, such as utility values and effectiveness data. Probabilistic sensitivity analysis indicated that, compared to usual care, PDT and ranibizumab most cases would be cost-effective in the bevacizumab arm at a threshold of $7,480/QALY. Conclusion. Bevacizumab can be a cost-effective option for the treatment of AMD in the Chinese setting. [ABSTRACT FROM AUTHOR]

Purpose. The etiology of neovascular age-related macular degeneration (nAMD) cannot be completely explained by identified environmental risk factors or single-locus gene variants. This study was to explore the potential interactions among gene variants on nAMD in Chinese population. Methods. 43 SNPs located in different genes were genotyped in 932 Chinese individuals (464 nAMD patients and 468 controls). We explored the potential interactions among gene variants using generalized multifactor dimensionality reduction (GMDR) algorithm and the method to measure the departure from the additivity model. Results. The joint effect that involved CFH rs1061170 and HTRA1 rs3793917 was shown statistically significant (P < 0.001) with the highest cross-validation consistency (10/10) and the best testing balanced accuracy (64.50%). In addition, based on the method to measure the departure from the additivity model, the synergy index (S) was 2.63 (1.09–6.38) and the attributable proportion due to interaction (AP) was 55.7% (21.4%–89.9%), which suggested that a common pathway may exist for these genes for nAMD. Those who carried CC for rs3793917 and TC/CC for rs1061170 were at the highest risk of nAMD (OR: 9.76, 95% CI: 4.65–20.51). Conclusions. Evidence that the joint effect that involved CFH and ARMS2/HTRA1 may contribute to the risk of neovascular AMD in Chinese population was obtained. [ABSTRACT FROM AUTHOR]

Purpose. To compare the 2-year effect of multiple doses of lutein/zeaxanthin on serum, macular pigmentation, and visual performance on patients with early age-related macular degeneration (AMD). Methods. In this randomized, double-blinded, and placebo-controlled trial, 112 early AMD patients randomly received either 10 mg lutein, 20 mg lutein, a combination of lutein (10 mg) and zeaxanthin (10 mg), or placebo daily for 2 years. Serum concentration of lutein/zeaxanthin, macular pigment optical density (MPOD), visual functions including best-spectacle corrected visual acuity (BCVA), contrast sensitivity (CS), flash recovery time (FRT), and vision-related quality of life (VFQ25) was quantified. Results. Serum lutein concentration and MPOD significantly increased in all the active treatment groups. Supplementation with 20 mg lutein was the most effective in increasing MPOD and CS at 3 cycles/degree for the first 48 weeks. However, they both significantly increased to the same peak value following supplementation with either 10 mg or 20 mg lutein during the intervention. No statistical changes of BCVA or FRT were observed during the trial. Conclusions. Long-term lutein supplementation could increase serum lutein concentration, MPOD, and visual sensitivities of early AMD patients. 10 mg lutein daily might be an advisable long-term dosage for early AMD treatment. [ABSTRACT FROM AUTHOR]

Background Growth differentiation factor 6 (GDF6) has been reported to be a novel disease gene for agerelated macular degeneration (AMD) in Caucasians. This study aimed to investigate whether rs6982567 was associated with neovascular AMD (nAMD) or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort. Methods A total of 612 participants (251 PCV patients, 157 nAMD patients and 204 controls) were included in this study. The SNaPshot system was used to genotype the rs6982567. PLINK software was used to evaluate the genotypes and allele frequencies of patients and controls. Results The allele frequencies of rs6982567 were not significantly associated with nAMD, PCV or PCV and nAMD combined. Subjects with the TT genotype had a 2.42-fold greater risk of PCV (95% confidence interval, 1.07-5.43, p = 0.0290) than subjects with CC genotype. A recessive model of rs6982567 was statistically significantly associated with PCV (odds ratio, 2.29; 95% confidence interval, 1.04-5.05; p = 0.0351). However, the association did not withstand stringent Bonferroni correction. There were no significant differences in genotype distributions or models in nAMD. Conclusions There was a possible weak association between the rs6982567 near GDF6 and PCV in this replication study with an independent Han Chinese cohort. A complete survey of the GDF6 locus with a larger sample size is needed in future studies. [ABSTRACT FROM AUTHOR]

Retinitis pigmentosa (RP) is the most common and highly heterogeneous form of hereditary retinal degeneration. This study was to identify mutations in the 60 genes that were known to be associated with RP in 157 unrelated Chinese families with RP. Genomic DNA from probands was initially analyzed by whole exome sequencing. Sanger sequencing was used to confirm potential candidate variants affecting the encoded residues in the 60 genes, including heterozygous variants from genes that are related to autosomal dominant RP, homozygous or compound heterozygous variants from genes that are related to autosomal recessive RP, and hemizygous variants from genes that are related to X-linked RP. Synonymous and intronic variants were also examined to confirm whether they could affect splicing. A total of 244 candidate variants were detected by exome sequencing. Sanger sequencing confirmed 240 variants out of the 244 candidates. Informatics and segregation analyses suggested 110 potential pathogenic mutations in 28 out of the 60 genes involving 79 of the 157 (50 %) families, including 31 (39 %, 31/79) families with heterozygous mutations in autosomal dominant genes, 37 (47 %, 37/79) families with homozygous (9) or compound heterozygous (28) mutations in autosomal recessive genes, and 11 (14 %, 11/79) families with hemizygous mutations in X-linked genes. Of the 110 identified variants, 74 (67 %) were novel. The genetic defects in approximately half of the 157 studies families were detected by exome sequencing. A comprehensive analysis of the 60 known genes not only expanded the mutation spectrum and frequency of the 60 genes in Chinese patients with RP, but also provided an overview of the molecular etiology of RP in Chinese patients. The analysis of the known genes also supplied the foundation and clues for discovering novel causative RP genes. [ABSTRACT FROM AUTHOR]

Purpose: The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. Methods: A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. Genomic DNA was prepared from peripheral blood after the participants underwent comprehensive eye examinations. All individuals were genotyped for eight single nucleotide polymorphisms (SNPs) in four specific genes. Genotypic distribution was tested for Hardy-Weinberg equilibrium. Statistical analysis was performed for genotype, allele and haplotype frequencies along with their p values and corresponding odds ratios (OR), 95% confidence intervals (95% CI) and measures of linkage disequilibrium (LD). Bonferroni corrections for multiple comparisons were performed. Results: Among the SNPs genotyped, p values of seven SNPs were less than 0.05 in the genotypic distributions and allele frequencies between AMD and control subjects. However, after Bonferroni correction, the genotype and allele distributions of two SNPs in CFH (rs10737680, rs1410996), one SNP (rs10490924) in ARMS2 and one SNP (rs11200638) in HTRA1 differed significantly between the controls and AMD patients. Two SNPs were significantly associated with AMD in the allele distributions. They were rs800292 ( pallele = 0.006, OR [CI] = 1.643[1.155-2.336]) in CFH and rs641153 ( pallele = 0.002, OR [CI] = 0.273[0.120-0.620]) in CFB. Five haplotypes in CFH significantly predisposed patients to AMD after 50,000 permutations ( p = 0.0099, p = 0.0099, p = 0.0013, p = 0.0414 and p = 0.0327). Conclusions: Gene variants in CFH, ARMS2 and HTRA1 are related to an increased risk of AMD in a northern Chinese population. [ABSTRACT FROM AUTHOR]

The aim of the present study was to investigate the pathomorphological and functional variations of choroidal neovascularization (CNV) in age-related macular degeneration (AMD) in a Chinese population using optical coherence tomography (OCT). This population-based study enrolled 59 patients (age, >45 years; eyes, 70) with early and intermediate-stage AMD from Youyi Road Community, Baoshan District, Shanghai, China. Comprehensive standardized ophthalmic examinations included visual acuity, anterior segment analysis using a slit lamp, dilated fundus evaluation by direct ophthalmoscopy, 90D handheld lens analysis, fundus photography, fundus fluorescein angiography (FFA) and fast optic disk scans using OCT. The macular CNV characteristic profiles in early and intermediate-stage AMD were determined by OCT. Data were obtained on the first visit and the follow-up period ranged between 6 and 24 months, where FFA and OCT outcomes of early and intermediate-stage AMD patients were analyzed. Three profiles of early and intermediate-stage AMD were created from the OCT and FFA results, each with a different prognosis. Firstly, drusens with unclear boundaries and evident pigment proliferation, as well as hypofluorescence around the drusens, was observed via FFA. A slight small arch field located in the retinal pigment epithelium (RPE)/choriocapillary layer (CCL) was shown on OCT scans, indicating exudative AMD. Secondly, RPE detachments of >1 pupillary distance, without CNV in the macular area, indicated geographic chorioretinitis atrophy. Finally, drusens with clear boundaries and few pigment proliferations and no certain surrounding fluorescence was observed via FFA, while a clear RPE/CCL band on the OCT scans indicated slow progress. The results of the present study demonstrated that combined OCT and FFA was the most efficient method for identifying CNV and diagnosing AMD. If the two techniques are not available concurrently, then OCT is a safer and more reliable technique to follow-up early and intermediate-stage AMD patients. [ABSTRACT FROM AUTHOR]

Objective: This randomized controlled trial examined serum and macular (in vivo measured macular pigment optical density [MPOD]) responses to supplemental lutein and zeaxanthin in Chinese subjects with early age-related macular degeneration. Methods: One hundred and eight patients with early age-related macular degeneration older than 50 y were randomized to low lutein (LL; 10 mg/d), high lutein (HL; 20 mg/d), lutein plus zeaxanthin (LZ; each 10 mg/d), or placebo during a 48-wk intervention. Serum concentrations were quantified by C30 high-performance liquid chromatography (at baseline and 4, 12, 24, and 48 wk), and MPOD was measured by analysis of autofluorescence images (at baseline and 24 and 48 wk). Results: Serum lutein levels in the LL, LZ, and HL groups increased significantly in the first 4 wk and then increased 4.24-, 4.66-, and 6.23-fold during the trial, respectively (all P < 0.001). The serum lutein level in the HL group was significantly higher than that in the LL or LZ group at 48 wk (P < 0.05). Similarly, the serum zeaxanthin concentration in the LZ group increased 3.11-fold at 48 wk. MPOD increased smoothly in all treated groups, and the increase from baseline was greatest in the HL group at 24 and 48 wk (both P < 0.05). MPOD and serum lutein levels increased linearly with the dosage and their increasing rates were statistically correlated (all P < 0.05). No notable changes were detected in the placebo group for MPOD and serum concentrations. Conclusion: Xanthophyll supplementation significantly increased serum concentrations and MPOD in patients with early age-related macular degeneration, and a higher lutein supplementation (20 mg/d) might be more effective in increasing these two biochemical markers in Chinese patients without significant side effects. [ABSTRACT FROM AUTHOR]

Objective: To evaluate 2 different dosing regimens of intravitreal bevacizumab for the treatment of neovascular age-related macular degeneration (AMD) patients in China. Design: Multicenter, randomized, prospective, open-label clinical trial. Participants: One hundred eighty-five patients with active neovascular AMD, exclusion of a macular scar, choroidal neovascularization not resulting from AMD, and polypoidal choroidal vasculopathy. Intervention: Patients were assigned randomly to receive intravitreal injections of bevacizumab every 6 weeks for the first 3 injections followed by injections every 6 weeks (regimen A, n = 91) or every 12 weeks (regimen B, n = 94). Main Outcome Measures: The primary outcome measure was a comparison of the mean change in visual acuity from baseline. The secondary outcome measure was a comparison of the proportion of patients with a change in visual acuity of 15 letters or more. Adverse events were monitored. Results: One-hundred eighty five patients were enrolled. At 48 weeks, the increase in the mean visual acuity measurements from baseline were 12.58 letters in regimen A and 10.06 letters in regimen B (P = 0.288). At 48 weeks, the percentage of eyes losing fewer than 15 letters was 96.2% in regimen A and 93.9% in regimen B (P = 0.720). At 48 weeks, the median decrease in central retinal thickness measurements from baseline was 119 μm in regimen A and 60 μm in regimen B (P = 0.221). Adverse events during the 48 weeks included anterior chamber inflammation in 17 patients (18.7%) from regimen A and 9 patients (9.6%) from regimen B (P = 0.075). There were no other notable ocular adverse events in either group. Conclusions: Intravitreal bevacizumab improved visual acuity and decreased macular thickness in patients with neovascular AMD when dosed either every 6 weeks or every 12 weeks after 3 doses given at 6-week intervals. Although there were no statistically significant differences between the 2 regimens, the results tended to favor the group dosed every 6 weeks (regimen A). Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article. [Copyright &y& Elsevier]

Dysregulation of the complement system has been linked to pathogenesis of hypertension. However, whether genetic changes of complement factor H (CFH) and its related genes are associated with hypertension is unknown. We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degeneration, namely rs1061170 (Y402H), rs2274700 (A473A) and rs7542235 (CFHR1-3Δ), and tested for their associations with blood pressure and hypertension risk in a population-based cohort including 3,210 unrelated Chinese Hans (50-70 years of age) from Beijing and Shanghai. We found that rs2274700 (A473A) and rs7542235 (CFHR1-3Δ) were both significantly associated with diastolic blood pressure (DBP) (β = 0.632-1.431, P⩽0.038) and systolic blood pressure (SBP) (β= 1.567-4.445, P⩽0.008), and rs2274700 (A473A) was associated with hypertension risk (OR [95%CI]: 1.175 [1.005-1.373], P = 0.048). Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1610-3), SBP (P=8610-5) and hypertension risk (P = 7.9610-3) were significant only in the individuals with low CRP levels (<2.0 mg/l), but not in those with RP levels ⩾2.0 mg/l (P⩾0.0807) (P for interaction ⩽0.0467). However, no significant association between rs1061170 (Y402H) and blood pressure or hypertension risk was observed (P⩾0.259). In conclusion, our results suggest that genetic variations in CFH and its related genes may contribute to hypertension risk in Chinese Hans. [ABSTRACT FROM AUTHOR]

Purpose: To describe the cumulative 5 year incidence of visual field loss in adult Chinese in Greater Beijing. Methods: The Beijing Eye Study 2006 included 3251 subjects (mean age 60.4±10.1 years) who had participated in the Beijing Eye Study 2001 and returned for re-examination. All participants underwent a comprehensive eye examination, including visual field test by frequency doubling threshold perimetry. An abnormal visual field was defined as reduced sensitivity in at least one test location. Incident visual field loss was defined as a change in visual field from normal at baseline to abnormal at follow-up. Results: An incident visual field loss was detected in 273 eyes (4.3±0.5%) /235 subjects (7.3±0.5%). It was significantly associated with higher age (P = 0.001), higher intraocular pressure (P<0.001), and higher fasting blood glucose concentration (P = 0.019). Considering only eyes (n = 140) with a detected cause for visual field loss, the most frequent causes were cataract (68 (48.6%) eyes) followed by glaucoma (23 (16.4%) eyes), diabetic retinopathy (13 (9.3%) eyes), agerelated macular degeneration (10 (7.1%) eyes), and myopic degenerative retinopathy (9 (6.4%) eyes). For 133 (48.7%) eyes with a visual field loss, the cause for the VFL remained unclear. Conclusions: The 5-year incidence of visual field loss was 4.3±0.5% per eye or 7.3±0.5% per subject. It increased significantly with age, intraocular pressure, and fasting blood glucose level. Major causes for the incidence of visual field loss were cataract, glaucoma and diabetic retinopathy. [ABSTRACT FROM AUTHOR]

Objective: To measure the oxidative and antioxidant biochemical parameters in the serum of Chinese patients with age-related macular degeneration (AMD) and in a similar age control group from the same area. Design: A case-control study. Participants: 56 AMD patients (21 early dry, 13 geographic atrophy and 22 wet form) and 34 normal subjects, similar for age and sex were studied. Measurements: Both groups completed a questionnaire about demographic characters and dieatry habit, and the levels of serum lipid peroxidation (malondialdehyde, MDA) and antioxidants parameters (vitamin C and E, the activities of superoxide dismutase-SOD, total antioxidant capacity - TAC) were determined. Results: There was a significantly higher frequency of daily intake of fruit and legumes in controls than in AMD patients. There was a significantly increased serum MDA levels and SOD activities, and significantly decreased serum vitamin C and total antioxidant capacity in AMD patients as compared to controls. The intensity of lipid peroxidation was higher with the progression of AMD. There was not difference in serum vitamin E levels between AMD patients and controls. Conclusion: Oxido-reduction disturbance may be involved in the pathogenesis of AMD. There is a significantly decreased antioxidant capacity in AMD patients. [ABSTRACT FROM AUTHOR]

Abstract: Objective: The paper aims to evaluate the risk factors for age-related macular degeneration (AMD) in elderly Chinese population in Shenyang, a northeast city of China. Methods: A case-control study was conducted to investigate the risk factors for the prevalence of AMD. Ninety three AMD patients diagnosed by a complete ophthalmic examination were recruited as cases from the outpatient departments of two eye hospitals in Shenyang, while 108 normal subjects of similar age and sex were recruited as controls. A questionnaire was administered among both cases and controls. Results: AMD patients aged 60 years and older accounted for 75.3%. There were significantly higher educational levels, shorter smoking history, less sunlight exposure and cataract, and higher proportion of antioxidants intake in controls than in AMD patients. The frequency of intake of fruits, legumes, fish and shrimps was significantly higher in controls than in AMD patients. In a binary logistic regression analysis, smoking and cataract were the risk factors for AMD (OR: 4.44, 95% CI: 2.27–8.69; OR: 4.47, 95% CI: 2.26–8.85 respectively). The high educational background was a protective factor for AMD (OR: 0.761, 95% CI: 0.51–0.98). Conclusion: A low educational background, smoking and cataract are associated with a higher prevalence of AMD. [Copyright &y& Elsevier]

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease. Clinically, no efficient assay protocols have been available. In this study, we aimed to develop an oligonucleotide biochip specialized for detection of known base substitution mutations in mitochondrial DNA causing LHON and to investigate frequencies of LHON relevant variants in Anhui region of China. Thirty-two pairs of oligonucleotide probes matched with the mutations potentially linked to LHON were covalently immobilized. Cy5-lablled targets were amplified from blood DNA samples by a multiplex PCR method. Two kinds of primary mutations 11778 G > A and 14484 T > C from six confirmed LHON patients were interrogated to validate this biochip format. Further, fourteen Chinese LHON pedigrees and twenty-five unrelated healthy individuals were investigated by the LHON biochip, direct sequencing and pyrosequencing, respectively. The biochip was found to be able efficiently to discriminate homoplasmic and heteroplasmic mtDNA mutations in LHON. Biochip analysis revealed that twelve of eighteen LHON symptomatic cases from the 14 Chinese pedigree harbored the mutations either 11778G > A, 14484T > C or 3460G > A, respectively, accounting for 66.7%. The mutation 11778G > A in these patients was homoplasmic and prevalent (55.5%, 10 of 18 cases). The mutations 3460G > A and 3394T > C were found to co-exist in one LHON case. The mutation 13708G > A appeared in one LHON pedigree. Smaller amount of sampling and reaction volume, easier target preparation, fast and high-throughput were the main advantages of the biochip over direct DNA sequencing and pyrosequencing. Our findings suggested that primary mutations of 11778G > A, 14484T > C or 3460G > A are main variants of mtDNA gene leading to LHON in China. The biochip would easily be implemented in clinical diagnosis. [ABSTRACT FROM AUTHOR]

Purpose: To report a novel, identical nonsense mutation in the rhodopsin ( RHO) gene in two Indonesian families with autosomal recessive retinitis pigmentosa (arRP). Methods: Mutation screening for the RHO gene was performed in 38 unrelated patients with retinitis pigmentosa (RP) by direct sequencing. Clinical features were also characterized, through complete ophthalmologic examination. Family members of RP patients testing positive for the RHO gene were subjected to genetic and clinical examination. To assess the founder effect in the two families, haplotype analysis also was performed. Results: A novel homozygous nonsense mutation was detected in two patients by a G to A transition at nucleotide position 482 in exon 2 of the RHO gene, resulting in substitution of a tryptophan-to-stop at codon 161 (c.482G>A, p.W161X). Examination of family members of these 2 patients showed that the affected members were homozygous and unaffected carriers were heterozygous for the p.W161X mutation. Haplotype analysis revealed that members of the two families carried the same disease-associated variants in markers ( IVS1 RHO and D3S2322). No p.W161X mutations were detected in 45 normal Indonesian subjects, nor were any mutations detected in exons 1--5 of the RHO gene in the remaining 36 RP patients. Conclusion: We detected a novel, recessive nonsense mutation (p.W161X) in the RHO gene of two families through mutation screening of RHO in 38 Indonesian RP patients. Haplotype analysis suggested that p.W161X was the founder mutation. [ABSTRACT FROM AUTHOR]

Purpose: To investigate polymorphisms in the pigment epithelium-derived factor ( PEDF) gene in a Chinese cohort with exudative age-related macular degeneration (AMD). Methods: Two common single nucleotide polymorphisms (SNPs), Met72Thr (rs1136287) and -5736T>C (rs12150053), were genotyped, and four tagSNPs (tSNPs) were detected statistically in the PEDF gene of 168 exudative AMD patients and 230 age- and sex-matched control participants. Genetic analyses for additive, dominant, and recessive models were performed on all the available genotype data. All the possible haplotypes of these six SNPs were detected. Results: No association was found between the patients and the control participants in the allele frequencies for any individual SNP. There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant. Likewise, haplotype analyses did not provide any evidence for an association between SNPs in the PEDF gene and the risk of exudative AMD in this Chinese cohort ( p > 0.05). Conclusions: Detection of SNPs in the PEDF gene was not found to be significantly associated with exudative AMD in the Chinese cohort. Further studies of comprehensive PEDF gene variations are required to characterize the susceptibility of PEDF gene in the pathogenesis of AMD. [ABSTRACT FROM AUTHOR]

Autosomal dominant retinitis pigmentosa (adRP) is a common form of RP worldwide. Although rhodopsin (RHO) is the most frequently reported adRP gene in many populations, it has not been detected in patients from the Bai nationality, one of the minority ethnic groups of southwest China. In this study, we used linkage analysis and mutation screening to identify the RHO gene in a Chinese Bai family with adRP. We found that in all affected members of the Bai family, the maximum two-point logarithm of odds score obtained was 3.61 and 4.52 at a recombination fraction (θ) of zero, with markers D3S3606 and D3S1292, respectively. Haplotype analysis showed cosegregation at the 1-c region harboring the RHO gene between the two markers with the disease. Direct sequencing of RHO revealed a c.1040C>T (p.Pro347leu) mutation in exon 5, which was supported by the reaction of the restriction enzyme. Two nonpathogenic single-nucleotide polymorphisms, rs7984 and rs2269736, were found in exon 1. To the best of our knowledge, this is the first genetic analysis of a Chinese Bai family with adRP, and a known missense RHO mutation (p.Pro347leu) is responsible for it. [ABSTRACT FROM AUTHOR]

Abstract: LHON is one of the most common and primary causes of acute blindness in young male adults. Over 95% of LHON cases are caused by one of the three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). In contrast to these genetically diagnosed LHON patients, there are many patients with clinical features of LHON but without the three primary mutations, and these patients have been insufficiently analyzed. We reported 10 suspected Chinese LHON families without the three primary mutations. The overall penetrance (53.4%) in these families is significantly higher than in those families with m.11778G>A (33.3%) or m.3460G>A (25.6%). Complete mtDNA genome sequencing of the 10 families showed that they belonged to different haplogroups and all identified variants (excluding m.12332A>G in mt-tRNALeu) were previously reported. Eight of 12 private non-synonymous variants in the probands are located in the MT-ND1 and MT-ND5 genes, which is substantially higher than that of individuals from general Chinese populations. Comparison of the private variants in the 10 families and in 10 randomly selected mtDNAs from general Chinese populations using resampling simulation strategy further confirmed this pattern. Our results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations. Variants m.3736G>A (p.V144I) in family Le1235 and m.10680G>A (p.A71T) in Le1107 can be the pathogenic mutations for LHON. [ABSTRACT FROM AUTHOR]

Purpose: To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP). Materials and Methods: DNA fragments—encompassing coding exons and adjacent intronic regions of RPGR and RP2—were analyzed by cycle sequencing. Results: Three mutations (ORF15 + 483_484delGA, ORF15 + 652_653delAG, and ORF15 + 650_653delAGAG) in RPGR were identified in four families with XLRP, while two mutations (c.353G>A and c.103_1053del) in RP2 were detected in two families with retinitis pigmentosa (RP) and high myopia. Conclusions: Our results expand the frequency and spectrum of mutations at RPGR and RP2 as well as their associated clinical phenotypes in Chinese patients. [ABSTRACT FROM AUTHOR]