Advances in ophthalmology practice and research最新文献

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The alterations of ocular surface metabolism and the related immunity inflammation in dry eye 干眼症眼表代谢改变及相关免疫炎症。
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.08.003
Xiaojie Wan , Yu Zhang , Kaiye Zhang , Yujie Mou , Xiuming Jin , Xiaodan Huang
{"title":"The alterations of ocular surface metabolism and the related immunity inflammation in dry eye","authors":"Xiaojie Wan ,&nbsp;Yu Zhang ,&nbsp;Kaiye Zhang ,&nbsp;Yujie Mou ,&nbsp;Xiuming Jin ,&nbsp;Xiaodan Huang","doi":"10.1016/j.aopr.2024.08.003","DOIUrl":"10.1016/j.aopr.2024.08.003","url":null,"abstract":"<div><h3>Background</h3><div>Dry eye disease (DED) stands as a prominent ocular condition of global prevalence, emerging as a growing concern within public health. However, the underlying mechanisms involved in its pathogenesis remain largely unknown. In recent years, with the development of metabolomics, numerous studies have reported alterations in ocular surface metabolism in DED and offered fresh perspectives on the development of DED.</div></div><div><h3>Main text</h3><div>The metabolic changes of the ocular surface of DED patients are closely intertwined with the cellular metabolism process and immune inflammation changes. This article expounds upon the correlation between ocular surface metabolism and immune inflammation alterations in DED in terms of glycolysis, lipid metabolism, amino acid metabolism, cellular signaling pathways, and immune inflammation regulation.</div></div><div><h3>Conclusions</h3><div>The alterations in ocular surface metabolism of patients with dry eye are closely associated with their inflammatory status. Our work contributes novel insights into the pathogenesis of dry eye diseases and offers innovative molecular targets for diagnosing, detecting, and managing DED patients.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 1-12"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11699629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between myopia and diabetic retinopathy: A two-sample mendelian randomization study
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.10.003
Jinyi Xu , Shengsong Xu , Xiao Wang , Chuqi Xiang, Zhenbang Ruan, Mingxin Lu, Liying He, Yin Hu, Xiao Yang
{"title":"Association between myopia and diabetic retinopathy: A two-sample mendelian randomization study","authors":"Jinyi Xu ,&nbsp;Shengsong Xu ,&nbsp;Xiao Wang ,&nbsp;Chuqi Xiang,&nbsp;Zhenbang Ruan,&nbsp;Mingxin Lu,&nbsp;Liying He,&nbsp;Yin Hu,&nbsp;Xiao Yang","doi":"10.1016/j.aopr.2024.10.003","DOIUrl":"10.1016/j.aopr.2024.10.003","url":null,"abstract":"<div><h3>Objective</h3><div>The association between myopia and diabetic retinopathy (DR) is unclear, with inconsistent results reported, and whether the association represents causality remains unknown. This study aimed to investigate the causal associations of genetically determined myopia with DR, and further explore specific mechanisms.</div></div><div><h3>Methods</h3><div>We conducted two-sample mendelian randomization (MR) analyses of any myopia and high myopia on six DR phenotypes, including any DR, background DR, severe background DR, proliferative DR (PDR), diabetic maculopathy and unspecific DR in the primary study. Mechanism exploration of spherical equivalent refraction (SER), corneal curvature (CC) and axial length (AL) on any DR was carried out subsequently. Single-nucleotide polymorphisms (SNPs), used as genetic instruments, were derived from UK Biobank, Genetic Epidemiology Research on Adult Health and Aging cohort (GERA) and FinnGen. The inverse variance weighted (IVW) method was mainly used to assess the causality, and was complemented with sensitivity analyses and causality direction analyses.</div></div><div><h3>Results</h3><div>Using SNPs that have excluded possible confounders, we discovered suggestive and positive causal associations of any myopia with any DR (IVW: odds ratio [OR] ​= ​1.133, 95% confidence interval [95%CI]: 1.070–1.201, <em>P</em> ​= ​1.91×10<sup>−5</sup>) and PDR (IVW: OR ​= ​1.182, 95% CI: 1.088–1.285, <em>P</em> ​= ​8.31×10<sup>−5</sup>). Similar but more significant associations were found of high myopia with any DR and PDR (IVW: OR ​= ​1.107, 95%CI: 1.051–1.166, <em>P</em> ​= ​1.39×10<sup>−4</sup>; OR ​= ​1.163, 95%CI: 1.088–1.244, <em>P</em> ​= ​8.76×10<sup>−6</sup>, respectively). Further mechanism analyses found only AL, rather than SER or CC, was strongly and significantly associated with any DR. These associations were robust in sensitivity analyses and causality direction analyses.</div></div><div><h3>Conclusions</h3><div>We found significant and positive causal associations of any myopia and high myopia with the risk of DR and PDR, which might be related with AL, indicating the significance of myopia control for preventing DR development and progression.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 32-40"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Targeting ocular malignancies using a novel light-activated virus-like drug conjugate
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.12.001
Sen Ma , Ruben V. Huis In't Veld , Elisabet de los Pinos , Ferry A. Ossendorp , Martine J. Jager
{"title":"Targeting ocular malignancies using a novel light-activated virus-like drug conjugate","authors":"Sen Ma ,&nbsp;Ruben V. Huis In't Veld ,&nbsp;Elisabet de los Pinos ,&nbsp;Ferry A. Ossendorp ,&nbsp;Martine J. Jager","doi":"10.1016/j.aopr.2024.12.001","DOIUrl":"10.1016/j.aopr.2024.12.001","url":null,"abstract":"<div><h3>Background</h3><div>Targeted therapy is a promising approach to improve the treatment of tumors, including ocular malignancies. Current therapies, such as radiotherapy and surgery, often lead to serious damage to vision or to loss of the eye. New approaches have examined nanoparticles for use as targeted delivery vehicles for drugs. A newly-developed virus-like drug conjugate is a promising nanoparticle with a defined target: the novel virus-like particle-photosensitizer conjugate Belzupacap sarotalocan (Bel-sar, previous name AU-011).</div></div><div><h3>Main text</h3><div>In this review, we summarize the application of this novel light-activated virus-like particle conjugate in pre-clinical and clinical studies and discuss its potential to treat ocular malignancies, such as uveal melanoma and conjunctival melanoma. We furthermore discuss the combination with immunotherapy and its application on pigmented and non-pigmented tumors as well as its effect on macrophage polarization, which is important to achieve effective results in immunotherapy.</div></div><div><h3>Conclusions</h3><div>Belzupacap sarotalocan (Bel-sar) is a promising targeted drug carrier that enhances tumor-specific delivery and minimizes off-target effects. Its photodynamic therapy effectively treats pigmented and non-pigmented tumors while inducing immunogenic cell death through DAMP exposure, triggering local and systemic immune responses. Combining Bel-sar PDT with immunotherapy improves efficacy in preclinical models, warranting further clinical investigation.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 49-57"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143178233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Global incidence and trends of ocular cancer: A bibliometric analysis
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.10.004
Hang Xu , Alexander C. Rokohl , Xiaojun Ju , Yongwei Guo , Xincen Hou , Wanlin Fan , Ludwig M. Heindl
{"title":"Global incidence and trends of ocular cancer: A bibliometric analysis","authors":"Hang Xu ,&nbsp;Alexander C. Rokohl ,&nbsp;Xiaojun Ju ,&nbsp;Yongwei Guo ,&nbsp;Xincen Hou ,&nbsp;Wanlin Fan ,&nbsp;Ludwig M. Heindl","doi":"10.1016/j.aopr.2024.10.004","DOIUrl":"10.1016/j.aopr.2024.10.004","url":null,"abstract":"<div><h3>Background</h3><div>Ocular cancer represents a significant threat to vision and life among various eye diseases. Conjunctival melanoma is regarded as one of the most feared and unpredictable ocular tumors. Considering the global differences in the occurrence of ocular melanoma across different races and regions, this study provides a thorough examination of the current state of research pertaining to the epidemiology of ocular and conjunctival cancers.</div></div><div><h3>Methods</h3><div>This bibliometrics analysis used the Web of Science Core Collection (WoSCC) to collect data from publications on the epidemiology of ocular cancer, including relevant literature from 1951 to 2024. We examined indicators including t publication counts, citation rates, and data on contributing countries, institutions, and journals. Use VOSviewer and CiteSpace for network visualization and Microsoft Excel for data management. Our analysis reveals key trends in the epidemiology of ocular cancer across countries and identifies prominent keywords.</div></div><div><h3>Results</h3><div>A total of 406 articles on ocular cancer were identified, with significant contributions from the United States, the United Kingdom, and Germany. Denmark also plays a crucial role, particularly in conjunctival cancer research. Carol L. Shields is a leading figure widely recognized for her influential citations in ocular cancer epidemiology. The top publication platforms include the <em>British Journal of Ophthalmology</em>, <em>Ophthalmic Epidemiology</em>, and <em>Ophthalmology</em>. Key terms in ocular cancer research focus on prevalence, survival, and epidemiology, while conjunctival cancer studies emphasize malignant melanoma, conjunctiva, and epidemiology. Through keyword co-occurrence and burst analysis, trending topics include prevalence, risk factors, uveal melanoma, choroidal melanoma, malignant melanoma, squamous cell carcinoma, and conjunctiva. For conjunctival cancer, key research areas expected to remain prominent are cell carcinoma, management, recurrence, ocular surface squamous neoplasia, and pathology.</div></div><div><h3>Conclusions</h3><div>This analysis represents the first comprehensive bibliometric review mapping the trends and the knowledge structure in ocular cancer research, specifically from an epidemiological viewpoint. The results meticulously explore and encapsulate the research frontiers for scholars dedicated to the epidemiology of conjunctival cancer.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 22-31"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.11.004
Lan Ma, Xue Jiang, Zhijia Hou, Dongmei Li
{"title":"Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study","authors":"Lan Ma,&nbsp;Xue Jiang,&nbsp;Zhijia Hou,&nbsp;Dongmei Li","doi":"10.1016/j.aopr.2024.11.004","DOIUrl":"10.1016/j.aopr.2024.11.004","url":null,"abstract":"<div><h3>Purpose</h3><div>This Mendelian randomization (MR) analysis study aimed to investigate the genetic causal relationship between non-thyroidal autoimmune diseases (ADs) and Graves' ophthalmopathy (GO).</div></div><div><h3>Materials</h3><div>Single nucleotide polymorphisms (SNPs) associated with inflammatory bowel disease (IBD), multiple sclerosis (MS), psoriasis vulgaris (PV), type 1 diabetes (T1D), systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA) were obtained from the IEU Open genome-wide association studies (GWAS) database, GWAS data for GO were obtained from the FinnGen database. Bidirectional MR analysis was conducted using inverse variance weighted (IVW) method, weighted median (WM) method and MR-Egger test. Cochran's Q statistic was used to assess the heterogeneity between SNP estimates. MR-Egger regression was used to evaluate horizontal pleiotropy and MR pleiotropy residual sum and outlier (MR-PRESSO) test was used to detect the outliers.</div></div><div><h3>Results</h3><div>For non-thyroidal ADs, the forward MR results using the IVM method showed that T1D (OR ​= ​1.259, 95%CI 1.026–1.5465; <em>P</em> ​= ​0.028) and SLE (OR ​= ​1.807, 95%CI 1.229–2.655; <em>P</em> ​= ​0.003) were correlated with the risk of GO at the genetic level, while there was no evidence showing that IBD, MS, PV and RA were correlated with GO. In the reverse MR study, there was a significant increase in the risk of developing T1D in GO (OR ​= ​1.135, 95%CI 1.018–1.265; <em>P</em> ​= ​0.022), but pleiotropy and heterogeneity existed.</div></div><div><h3>Conclusions</h3><div>In the European population, there is strong genetic evidence that patients with T1D and SLE have a higher risk of developing GO, whereas the effect of GO on ADs is unclear.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 66-72"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143379455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Real-world assessment of second-generation trabecular micro-bypass stents in open-angle glaucoma patients
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.09.002
Vishal Vohra , Indira Madgula , Harshika Chawla
{"title":"Real-world assessment of second-generation trabecular micro-bypass stents in open-angle glaucoma patients","authors":"Vishal Vohra ,&nbsp;Indira Madgula ,&nbsp;Harshika Chawla","doi":"10.1016/j.aopr.2024.09.002","DOIUrl":"10.1016/j.aopr.2024.09.002","url":null,"abstract":"<div><h3>Background</h3><div>To assess the safety and efficacy of iStent inject placement in individuals with glaucoma with open angles in real world clinical settings.</div></div><div><h3>Methods</h3><div>A review was conducted on the medical records of individuals who received iStent inject implants starting from March 2018. The analysis focused on reductions in intraocular pressure (IOP) and glaucoma medication usage. Safety assessments encompassed intraoperative and postoperative issues, additional surgeries, and improvements in best-corrected visual acuity (BCVA).</div></div><div><h3>Results</h3><div>Analysis of 55 eyes of 48 patients that underwent iStent implantation revealed a mean age of 77 years (range: 51–97). The initial average intraocular pressure (IOP) in these eyes was 20.2 ​± ​6.4 ​mm Hg. Following surgery, IOP decreased by ​≥ ​20% compared to preoperative levels in 21 eyes (43.8%) over the 12-month follow-up period. Notably, there was a significant reduction in medication usage by the 12-month mark (<em>P</em> ​&lt; ​0.0042). Among the evaluated eyes, 9 exhibited a response to steroids, 3 had stents that were improperly positioned, 5 had stents that were over implanted, and 1 eye experienced an episode of iris prolapse.</div></div><div><h3>Conclusions</h3><div>The findings from the 12-month follow-up of iStent inject implants in standard clinical settings demonstrate a notable decrease in both intraocular pressure (IOP) and medication usage in eyes with concurrent open-angle glaucoma.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 16-21"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An anatomical study of the medial wall, lateral wall, roof, and floor of the Filipino orbit 菲律宾人眼眶内壁、外侧壁、顶和底的解剖学研究
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.10.002
Lorenzo Angelo R. Santos, Reynaldo M. Javate
{"title":"An anatomical study of the medial wall, lateral wall, roof, and floor of the Filipino orbit","authors":"Lorenzo Angelo R. Santos,&nbsp;Reynaldo M. Javate","doi":"10.1016/j.aopr.2024.10.002","DOIUrl":"10.1016/j.aopr.2024.10.002","url":null,"abstract":"","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 73-77"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Closing eyes with artificial tears: A simple and effective strategy to combat screen-related asthenopia and dry eye symptoms 用人工泪液闭眼:应对屏幕相关性远视和干眼症状的简单有效策略
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.07.001
Ning Wang , Jinjin Min , Xiaojing Fan , Xiuming Jin
{"title":"Closing eyes with artificial tears: A simple and effective strategy to combat screen-related asthenopia and dry eye symptoms","authors":"Ning Wang ,&nbsp;Jinjin Min ,&nbsp;Xiaojing Fan ,&nbsp;Xiuming Jin","doi":"10.1016/j.aopr.2024.07.001","DOIUrl":"10.1016/j.aopr.2024.07.001","url":null,"abstract":"<div><h3>Background</h3><div>The widespread use of various video display terminals (VDTs) always had a detrimental impact on ocular health. Prolonged use of smartphones has been one of the leading causes of dry eye (DE) and asthenopia. Therefore, the purpose of this study is to find a simple and effective strategy to combat screen-related DE and asthenopia.</div></div><div><h3>Methods</h3><div>A group of healthy participants aged 18 and above were randomly assigned to three groups and tasked with a 2 h smartphone reading task. After 1 ​h of usage, each group adopted different methods of rest: no rest (Group A), a 10 min eye-closed rest (Group B), or a 10 min eye-closed joint artificial tears rest (Group C). Ophthalmological examinations and questionnaires were administered to all participants before and after the 2 h reading task.</div></div><div><h3>Results</h3><div>90 qualified volunteers, including 29 males and 61 females, were randomly assigned to three groups. Group A demonstrated a significant increase in the severity of DE and asthenopia as evidenced by all the evaluated indices. On the other hand, Group C did not exhibit any notable change in DE and asthenopia symptoms, with an improvement in corneal fluorescein staining (CFS) results (<em>P</em> ​&gt; ​0.05) when compared to the pre-reading values. Group B showed a significant increase in ocular surface disease index (OSDI) (<em>P</em> ​≤ ​0.05) and a decrease in critical flicker frequency (CFF) (<em>P</em> ​≤ ​0.05).</div></div><div><h3>Conclusions</h3><div>Close-eye rest with artificial tears may be a convenient and effective prevention strategy for screen-related DE and asthenopia.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 58-65"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141692128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Decline in US–China science: Can ophthalmology remain collaborative? 中美科学的衰落:眼科能保持合作吗?
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.11.002
Kevin Y. Huang , Parth A. Patel , Austin Huang, Allen C. Ho, Jost B. Jonas, Xiaodong Sun, Youxin Chen, Yingfeng Zheng, Yih-Chung Tham, Christina Y. Weng, Tien Yin Wong
{"title":"Decline in US–China science: Can ophthalmology remain collaborative?","authors":"Kevin Y. Huang ,&nbsp;Parth A. Patel ,&nbsp;Austin Huang,&nbsp;Allen C. Ho,&nbsp;Jost B. Jonas,&nbsp;Xiaodong Sun,&nbsp;Youxin Chen,&nbsp;Yingfeng Zheng,&nbsp;Yih-Chung Tham,&nbsp;Christina Y. Weng,&nbsp;Tien Yin Wong","doi":"10.1016/j.aopr.2024.11.002","DOIUrl":"10.1016/j.aopr.2024.11.002","url":null,"abstract":"","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 13-15"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel RP1 truncating mutation that causes autosomal dominant retinitis pigmentosa (ADRP)
Advances in ophthalmology practice and research Pub Date : 2025-02-01 DOI: 10.1016/j.aopr.2024.08.005
Wei Wu , Ying Zhang , Jingjie Xu , Hua Jiang , Xiangjun Chen
{"title":"A novel RP1 truncating mutation that causes autosomal dominant retinitis pigmentosa (ADRP)","authors":"Wei Wu ,&nbsp;Ying Zhang ,&nbsp;Jingjie Xu ,&nbsp;Hua Jiang ,&nbsp;Xiangjun Chen","doi":"10.1016/j.aopr.2024.08.005","DOIUrl":"10.1016/j.aopr.2024.08.005","url":null,"abstract":"<div><h3>Background</h3><div>Retinitis pigmentosa (RP) is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide. Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss. Retinitis Pigmentosa 1 (RP1), also known as the oxygen-regulated protein-1, is a microtubule-associated protein (MAP) that organizes the outer segment of the photoreceptor. Besides, mutations in the <em>RP1</em> gene are associated with dominant or recessive form of RP. This study aims to identify the potential pathogenic genes in Chinese RP patients and to elucidate the association relationship between the mutant gene and the phenotypes.</div></div><div><h3>Methods</h3><div>Multiple ophthalmic examinations, whole-exome sequencing, sanger sequencing, and <em>in silico</em> analysis were performed to evaluate the clinical features and pathogenic genes in a five-generation Chinese family diagnosed with RP.</div></div><div><h3>Results</h3><div>Our findings revealed a novel truncating mutation c.2015_2018del p. (Lys672Argfs∗9) in <em>RP1</em> that may result in the translation of a protein with deleterious effects on photoreceptors. Therefore, resulting in autosomal dominant retinitis pigmentosa (ADRP).</div></div><div><h3>Conclusions</h3><div>This study broaden the range of genetic mutations associated with <em>RP1</em> in ADRP and make a valuable contribution to the ongoing endeavors aimed at characterizing the molecular aspects of Chinese ADRP. Future studies would pay more attention in determining the characterization of the mutantations in <em>RP1</em> gene and the relationship between genotype and phenotype in RP patients.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 1","pages":"Pages 41-48"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143178240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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