Pub Date : 2024-01-03DOI: 10.1016/j.survophthal.2023.12.003
Yaninsiri Ngathaweesuk , Jytte Hendrikse , Jolanda Dorothea Francisca de Groot-Mijnes , Joke Helena de Boer , Ymkje Marije Hettinga
Infectious pediatric uveitis is a rare disease that can cause severe ocular damage if not detected rapidly and treated properly. Additionally, early identification of an infection can protect the child from life-threatening systemic infection. Infectious uveitis can be congenital or acquired and may manifest as a primary ocular infection or as a reactivation. Nevertheless, publications on infectious paediatric uveitis are usually limited to a small number of patients or a case report. So far, most studies on uveitis in children have focused primarily on noninfectious uveitis, and a systematic study on infectious uveitis is lacking. In this review, we summarize the literature on infectious uveitis in pediatric populations and report on the epidemiology, pathophysiology, clinical signs, diagnostic tests, and treatment. We will describe the different possible pathogens causing uveitis in childhood by microbiological group (i.e. parasites, viruses, bacteria, and fungi). We aim to contribute to early diagnosis and management of infectious pediatric uveitis, which in turn might improve not only visual outcome, but also the general health outcome.
{"title":"Causes of infectious pediatric uveitis: A review","authors":"Yaninsiri Ngathaweesuk , Jytte Hendrikse , Jolanda Dorothea Francisca de Groot-Mijnes , Joke Helena de Boer , Ymkje Marije Hettinga","doi":"10.1016/j.survophthal.2023.12.003","DOIUrl":"10.1016/j.survophthal.2023.12.003","url":null,"abstract":"<div><p>Infectious pediatric uveitis is a rare disease that can cause severe ocular damage if not detected rapidly and treated properly. Additionally, early identification of an infection can protect the child from life-threatening systemic infection. Infectious uveitis can be congenital or acquired and may manifest as a primary ocular infection or as a reactivation. Nevertheless, publications on infectious paediatric uveitis are usually limited to a small number of patients or a case report. So far, most studies on uveitis in children have focused primarily on noninfectious uveitis, and a systematic study on infectious uveitis is lacking. In this review, we summarize the literature on infectious uveitis in pediatric populations and report on the epidemiology, pathophysiology, clinical signs, diagnostic tests, and treatment. We will describe the different possible pathogens causing uveitis in childhood by microbiological group (i.e. parasites, viruses, bacteria, and fungi). We aim to contribute to early diagnosis and management of infectious pediatric uveitis, which in turn might improve not only visual outcome, but also the general health outcome.</p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0039625723001728/pdfft?md5=1e36a8b39774e6e81d7711c105e481b3&pid=1-s2.0-S0039625723001728-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139095553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-02DOI: 10.1016/j.survophthal.2023.12.004
Carolina Cantu-Rosales MD , Pablo Baquero-Ospina MD , Samuel Peña-Ortiz MD , Jahzeel Díaz-Castillo MD , Luz-Elena Concha-del-Rio MD
Good syndrome (GS) is a rare primary immunodeficiency in adults consisting of hypogammaglobulinemia and thymoma that affects both cellular and humoral immunity. It usually appears in patients between the 4th and 6th decade of life and affects both genders equally. Ophthalmological clinical presentation is highly variable; associations with herpetic keratitis, toxoplasmosis, and cytomegalovirus retinitis (CMVR) have been described. GS associated with CMVR is uncommon. Ophthalmologists may be the first to diagnose systemic disease and change the outcome. Only18 cases of CMVR have been described, most of them unilateral with poor visual outcomes. We discuss the clinical features of CMVR in patients with reported GS, pathogenesis, and outline a work-up for diagnosis. CMVR in an apparently healthy patient should encourage the clinician to search for human immunodeficiency virus (HIV) and non-HIV–associated immunosuppression.
{"title":"Good syndrome and cytomegalovirus retinitis: A literature review.","authors":"Carolina Cantu-Rosales MD , Pablo Baquero-Ospina MD , Samuel Peña-Ortiz MD , Jahzeel Díaz-Castillo MD , Luz-Elena Concha-del-Rio MD","doi":"10.1016/j.survophthal.2023.12.004","DOIUrl":"10.1016/j.survophthal.2023.12.004","url":null,"abstract":"<div><p>Good syndrome (GS) is a rare primary immunodeficiency in adults consisting of hypogammaglobulinemia and thymoma that affects both cellular and humoral immunity. It usually appears in patients between the 4th and 6th decade of life and affects both genders equally. Ophthalmological clinical presentation is highly variable; associations with herpetic keratitis, toxoplasmosis, and cytomegalovirus retinitis (CMVR) have been described. GS associated with CMVR is uncommon. Ophthalmologists may be the first to diagnose systemic disease and change the outcome. Only18 cases of CMVR have been described, most of them unilateral with poor visual outcomes. We discuss the clinical features of CMVR in patients with reported GS, pathogenesis, and outline a work-up for diagnosis. CMVR in an apparently healthy patient should encourage the clinician to search for human immunodeficiency virus (HIV) and non-HIV–associated immunosuppression.</p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139082567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-30DOI: 10.1016/j.survophthal.2023.12.001
Ryan S. Huang , Andrew Mihalache , Marko M. Popovic , Miguel Cruz-Pimentel , Bhadra U. Pandya , Rajeev H. Muni , Peter J. Kertes
Primary vitreoretinal lymphoma is a potentially aggressive intraocular malignancy with poor systemic prognosis and sometimes significant diagnostic delays as it may masquerade as chronic uveitis. Despite the variety of diagnostic techniques, it is unclear which modality is most accurate in the diagnosis of PVRL. A systematic literature search was conducted on Ovid MEDLINE, EMBASE and the Cochrane Controlled Register of Trials for studies published between January, 2000, and June, 2023. Randomized controlled trials (RCTs) reporting on the following diagnostic tools used to diagnose patients with PVRL were included: cytology, flow cytometry, MYD88 L265P mutation, CD79B mutation, interleukin 10/interleukin-6 (IL-10/IL-6) ratio, polymerase chain reaction (PCR) for monoclonal immunoglobulin heavy chain (IgH) and immunoglobulin kappa light chain (IgK) rearrangements, and imaging findings. The aggregated sensitivity of each diagnostic modality was reported and compared using the chi-squared (χ2) test. A total of 662 eyes from 29 retrospective studies reporting on patients diagnosed with PVRL were included. An IL-10/IL-6 ratio greater than 1 had the highest sensitivity (89.39%, n = 278/311 eyes, n = 16 studies) for PVRL, where the sensitivity was not significantly different when only vitreous samples were drawn (88.89%, n = 232/261 eyes, n = 13 studies) compared to aqueous samples (83.33%, n = 20/24, n = 2) (p = 0.42). Flow cytometry of vitreous samples gave a positive result in 66/75 eyes (88.00%, n = 6 studies) with PVRL, and monoclonal IgH rearrangements on PCR gave a positive result in 354/416 eyes (85.10%, n = 20 studies) with PVRL. MYD88 L265P and CD79B mutation analysis performed poorly, yielding a positive result in 63/90 eyes (70.00%, n = 8 studies) with PVRL, and 20/57 eyes (35.09%, n = 4 studies) with PVRL, respectively. Overall, our systematic review found that an IL-10/IL-6 ratio greater or equal to one may provide the highest sensitivity in identifying patients with PVRL. Future studies are needed to employ multiple diagnostic tools to aid in the detection of PVRL and to further establish nuanced guidelines when determining the optimal diagnostic tool to use in diverse patient populations.
{"title":"Diagnostic methods for primary vitreoretinal lymphoma: A systematic review","authors":"Ryan S. Huang , Andrew Mihalache , Marko M. Popovic , Miguel Cruz-Pimentel , Bhadra U. Pandya , Rajeev H. Muni , Peter J. Kertes","doi":"10.1016/j.survophthal.2023.12.001","DOIUrl":"10.1016/j.survophthal.2023.12.001","url":null,"abstract":"<div><p>Primary vitreoretinal lymphoma is a potentially aggressive intraocular malignancy with poor systemic prognosis and sometimes significant diagnostic delays as it may masquerade as chronic uveitis. Despite the variety of diagnostic techniques, it is unclear which modality is most accurate in the diagnosis of PVRL. A systematic literature search was conducted on Ovid MEDLINE, EMBASE and the Cochrane Controlled Register of Trials for studies published between January, 2000, and June, 2023. Randomized controlled trials (RCTs) reporting on the following diagnostic tools used to diagnose patients with PVRL were included: cytology, flow cytometry, MYD88 L265P mutation, CD79B mutation, interleukin 10/interleukin-6 (IL-10/IL-6) ratio, polymerase chain reaction (PCR) for monoclonal immunoglobulin heavy chain (IgH) and immunoglobulin kappa light chain (IgK) rearrangements, and imaging findings. The aggregated sensitivity of each diagnostic modality was reported and compared using the chi-squared (χ2) test. A total of 662 eyes from 29 retrospective studies reporting on patients diagnosed with PVRL were included. An IL-10/IL-6 ratio greater than 1 had the highest sensitivity (89.39%, n = 278/311 eyes, n = 16 studies) for PVRL, where the sensitivity was not significantly different when only vitreous samples were drawn (88.89%, n = 232/261 eyes, n = 13 studies) compared to aqueous samples (83.33%, n = 20/24, n = 2) (p = 0.42). Flow cytometry of vitreous samples gave a positive result in 66/75 eyes (88.00%, n = 6 studies) with PVRL, and monoclonal IgH rearrangements on PCR gave a positive result in 354/416 eyes (85.10%, n = 20 studies) with PVRL. MYD88 L265P and CD79B mutation analysis performed poorly, yielding a positive result in 63/90 eyes (70.00%, n = 8 studies) with PVRL, and 20/57 eyes (35.09%, n = 4 studies) with PVRL, respectively. Overall, our systematic review found that an IL-10/IL-6 ratio greater or equal to one may provide the highest sensitivity in identifying patients with PVRL. Future studies are needed to employ multiple diagnostic tools to aid in the detection of PVRL and to further establish nuanced guidelines when determining the optimal diagnostic tool to use in diverse patient populations.</p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139070542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-29DOI: 10.1016/j.survophthal.2023.10.013
Alessandro Feo , Elisa Stradiotto , Riccardo Sacconi , Matteo Menean , Giuseppe Querques , Mario R. Romano
Subretinal hyperreflective material (SHRM) is a common and remarkable optical coherence tomography (OCT) biomarker whose importance is emerging in several retinal and chorioretinal diseases, including age-related macular degeneration, central serous chorioretinopathy, polypoidal choroidal vasculopathy, pathologic myopia, posterior uveitis, vitelliform lesions and macular dystrophies, and rarer disorders. Multimodal imaging, also thanks to the introduction of OCT angiography, allowed a deeper characterisation of SHRM components and its morphological changes after treatment, suggesting its usefulness in clinical practice. We discuss and summarize the nature, multimodal imaging characteristics, and prognostic and predictive significance of SHRM in the different retinal and choroidal disorders in which it has been described.
{"title":"Subretinal hyperreflective material in retinal and chorioretinal disorders: A comprehensive review","authors":"Alessandro Feo , Elisa Stradiotto , Riccardo Sacconi , Matteo Menean , Giuseppe Querques , Mario R. Romano","doi":"10.1016/j.survophthal.2023.10.013","DOIUrl":"10.1016/j.survophthal.2023.10.013","url":null,"abstract":"<div><p><span>Subretinal hyperreflective material (SHRM) is a common and remarkable optical coherence tomography (OCT) biomarker whose importance is emerging in several retinal and chorioretinal diseases, including age-related macular degeneration, </span>central serous chorioretinopathy<span><span><span>, polypoidal choroidal vasculopathy<span>, pathologic myopia, </span></span>posterior uveitis, vitelliform lesions and </span>macular dystrophies<span><span>, and rarer disorders. </span>Multimodal imaging<span><span>, also thanks to the introduction of OCT angiography, allowed a deeper characterisation of SHRM components and its morphological changes after </span>treatment, suggesting its usefulness in clinical practice. We discuss and summarize the nature, multimodal imaging characteristics, and prognostic and predictive significance of SHRM in the different retinal and choroidal disorders in which it has been described.</span></span></span></p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139070808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-19DOI: 10.1016/j.survophthal.2023.11.011
Rupak Roy , Surabhi Chattree , Urvashi Kala , Bristi Majumdar , Janhavi Desai , Sampurna Bhattacharya , Ahana Sen , Sugandha Goel , Nicey Roy Thomas , Maitreyi Chowdhury , Kalpita Das , Eesh Nigam , Debmalya Das , Kumar Saurabh
Multicolor (MC) imaging is an innovative pseudocolor fundus imaging modality based on confocal scanning laser ophthalmoscopy. It effectively scans the retina at different depths to create a composite image. The green reflectance image depicts the middle retinal while blue reflectance image provides images of the retinal surface. The infrared reflectance image depicts retinal structures at the level of outer retina and choroid. We systematically analyze published case reports, case series, and original articles on MC imaging where it has helped in discovering additional clinical features of retinal diseases not readily apparent on conventional color fundus photography and played a role in monitoring the response to treatment.
多色(MC)成像是一种基于共焦扫描激光眼底镜的创新型伪彩色眼底成像模式。它能有效扫描不同深度的视网膜,生成复合图像。绿色反射图像显示视网膜中部,蓝色反射图像显示视网膜表面。红外反射图像描绘了外层视网膜和脉络膜的视网膜结构。在本综述中,我们系统分析了已发表的有关 MC 成像的病例报告、系列病例和原创文章,在这些病例中,MC 成像有助于发现传统彩色眼底摄影不易发现的视网膜疾病的其他临床特征,并在监测治疗反应方面发挥作用。
{"title":"Multicolor imaging: Current clinical applications","authors":"Rupak Roy , Surabhi Chattree , Urvashi Kala , Bristi Majumdar , Janhavi Desai , Sampurna Bhattacharya , Ahana Sen , Sugandha Goel , Nicey Roy Thomas , Maitreyi Chowdhury , Kalpita Das , Eesh Nigam , Debmalya Das , Kumar Saurabh","doi":"10.1016/j.survophthal.2023.11.011","DOIUrl":"10.1016/j.survophthal.2023.11.011","url":null,"abstract":"<div><p><span><span>Multicolor (MC) imaging is an innovative pseudocolor fundus imaging modality based on confocal </span>scanning laser ophthalmoscopy<span>. It effectively scans the retina at different depths to create a composite image. The green reflectance image depicts the middle retinal while blue reflectance image provides images of the retinal surface. The infrared reflectance image depicts retinal structures at the level of outer retina and choroid. We systematically analyze published case reports, case series, and original articles on MC imaging where it has helped in discovering additional clinical features of </span></span>retinal diseases<span><span> not readily apparent on conventional color fundus photography and played a role in monitoring the response to </span>treatment.</span></p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138818122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01DOI: 10.1016/j.survophthal.2023.11.010
Ayman Mohammed Musleh , Saif Aldeen AlRyalat , Mohammad Naim Abid , Yahia Salem , Haitham Mounir Hamila , Ahmed B. Sallam
Retinitis pigmentosa (RP) is often undetected in its early stages. Artificial intelligence (AI) has emerged as a promising tool in medical diagnostics. Therefore, we conducted a systematic review and meta-analysis to evaluate the diagnostic accuracy of AI in detecting RP using various ophthalmic images. We conducted a systematic search on PubMed, Scopus, and Web of Science databases on December 31, 2022. We included studies in the English language that used any ophthalmic imaging modality, such as OCT or fundus photography, used any AI technologies, had at least an expert in ophthalmology as a reference standard, and proposed an AI algorithm able to distinguish between images with and without retinitis pigmentosa features. We considered the sensitivity, specificity, and area under the curve (AUC) as the main measures of accuracy. We had a total of 14 studies in the qualitative analysis and 10 studies in the quantitative analysis. In total, the studies included in the meta-analysis dealt with 920,162 images. Overall, AI showed an excellent performance in detecting RP with pooled sensitivity and specificity of 0.985 [95%CI: 0.948–0.996], 0.993 [95%CI: 0.982–0.997] respectively. The area under the receiver operating characteristic (AUROC), using a random-effect model, was calculated to be 0.999 [95%CI: 0.998–1.000; P < 0.001]. The Zhou and Dendukuri I² test revealed a low level of heterogeneity between the studies, with [I2 = 19.94%] for sensitivity and [I2 = 21.07%] for specificity. The bivariate I² [20.33%] also suggested a low degree of heterogeneity. We found evidence supporting the accuracy of AI in the detection of RP; however, the level of heterogeneity between the studies was low.
色素性视网膜炎(RP)通常在早期未被发现。人工智能(AI)已成为医学诊断领域的一个有前途的工具。因此,我们进行了一项系统综述和荟萃分析,以评估人工智能在使用各种眼科图像检测RP时的诊断准确性。我们于2022年12月31日对PubMed、Scopus和Web of Science数据库进行了系统检索。我们纳入了使用任何眼科成像方式(如OCT或眼底摄影)、使用任何人工智能技术、至少有一位眼科专家作为参考标准的英语研究,并提出了一种能够区分有或没有视网膜色素变性特征的图像的人工智能算法。我们考虑灵敏度、特异性和曲线下面积(AUC)作为准确性的主要衡量标准。我们总共有14项研究用于定性分析,10项研究用于定量分析。总的来说,包括meta分析在内的研究处理了920162张图片。总体而言,人工智能在RP检测中表现出优异的表现,其综合灵敏度和特异性分别为0.985 [95%CI: 0.948-0.996]和0.993 [95%CI: 0.982-0.997]。采用随机效应模型计算受试者工作特征下面积(AUROC)为0.999 [95%CI: 0.998-1.000;P
{"title":"Diagnostic accuracy of artificial intelligence in detecting retinitis pigmentosa: A systematic review and meta-analysis","authors":"Ayman Mohammed Musleh , Saif Aldeen AlRyalat , Mohammad Naim Abid , Yahia Salem , Haitham Mounir Hamila , Ahmed B. Sallam","doi":"10.1016/j.survophthal.2023.11.010","DOIUrl":"10.1016/j.survophthal.2023.11.010","url":null,"abstract":"<div><p><span><span>Retinitis pigmentosa (RP) is often undetected in its early stages. Artificial intelligence (AI) has emerged as a promising tool in medical diagnostics. Therefore, we conducted a </span>systematic review<span> and meta-analysis to evaluate the diagnostic accuracy of AI in detecting RP using various ophthalmic<span> images. We conducted a systematic search on PubMed, Scopus, and Web of Science databases on December 31, 2022. We included studies in the English language that used any ophthalmic imaging modality, such as OCT<span><span> or fundus photography, used any AI technologies, had at least an expert in </span>ophthalmology as a reference standard, and proposed an AI algorithm able to distinguish between images with and without retinitis pigmentosa features. We considered the sensitivity, specificity, and area under the curve (AUC) as the main measures of accuracy. We had a total of 14 studies in the qualitative analysis and 10 studies in the quantitative analysis. In total, the studies included in the meta-analysis dealt with 920,162 images. Overall, AI showed an excellent performance in detecting RP with pooled sensitivity and specificity of 0.985 [95%CI: 0.948–0.996], 0.993 [95%CI: 0.982–0.997] respectively. The area under the receiver operating characteristic (AUROC), using a random-effect model, was calculated to be 0.999 [95%CI: 0.998–1.000; P < 0.001]. The Zhou and Dendukuri I² test revealed a low level of heterogeneity between the studies, with [I</span></span></span></span><sup>2</sup> = 19.94%] for sensitivity and [I<sup>2</sup> = 21.07%] for specificity. The bivariate I² [20.33%] also suggested a low degree of heterogeneity. We found evidence supporting the accuracy of AI in the detection of RP; however, the level of heterogeneity between the studies was low.</p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-29DOI: 10.1016/j.survophthal.2023.11.006
Tobin B.T. Thuma , Rebecca A. Procopio , Hiram J. Jimenez , Kammi B. Gunton , Jose S. Pulido
Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the amount of mRNA or protein product produced by a gene or by production of a gene product with reduced function. Many hypomorphic variants have been implicated in inherited retinal diseases (IRDs) and other genetic ocular conditions; however, there is heterogeneity in the use of the term “hypomorphic” in the scientific literature. We searched for all hypomorphic variants reported to cause IRDs and ocular disorders. We also discuss the presence of hypomorphic variants in the patient population of our ocular genetics department over the past decade. We propose that standardized criteria should be adopted for use of the term “hypomorphic” to describe gene variants to improve genetic counseling and patient care outcomes.
{"title":"Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases","authors":"Tobin B.T. Thuma , Rebecca A. Procopio , Hiram J. Jimenez , Kammi B. Gunton , Jose S. Pulido","doi":"10.1016/j.survophthal.2023.11.006","DOIUrl":"10.1016/j.survophthal.2023.11.006","url":null,"abstract":"<div><p>Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the amount of mRNA or protein product produced by a gene or by production of a gene product with reduced function. Many hypomorphic variants have been implicated in inherited retinal diseases (IRDs) and other genetic ocular conditions; however, there is heterogeneity in the use of the term “hypomorphic” in the scientific literature. We searched for all hypomorphic variants reported to cause IRDs and ocular disorders. We also discuss the presence of hypomorphic variants in the patient population of our ocular genetics department over the past decade. We propose that standardized criteria should be adopted for use of the term “hypomorphic” to describe gene variants to improve genetic counseling and patient care outcomes.</p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138462758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-26DOI: 10.1016/j.survophthal.2023.11.004
Supriya Arora , Dinah Zur , Claudio Iovino , Jay Chhablani
Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary choroidal neovascularization, optic disc pit maculopathy, and optic nerve head tumors and granulomas. Optical coherence tomography (OCT) helps to visualize peripapillary fluid in many other chorioretinal conditions such as peripapillary pachychoroid syndrome, posterior uveitis, central retinal vein occlusion, malignant hypertension, hypotonic maculopathy as well as neuro-ophthalmological conditions such as glaucoma, microcystic macular edema and disc edema due papilledema, non-arteritic anterior ischemic optic neuropathy, neuroretinitis, and diabetic papillopathy. Often, the differential diagnosis of peripapillary fluid is a bit tricky and may lead to misdiagnosis and improper management. We describe a diagnostic algorithm for peripapillary fluid on OCT and outline the salient features and management of these conditions.
{"title":"Peripapillary fluid: Obvious and not so obvious!","authors":"Supriya Arora , Dinah Zur , Claudio Iovino , Jay Chhablani","doi":"10.1016/j.survophthal.2023.11.004","DOIUrl":"10.1016/j.survophthal.2023.11.004","url":null,"abstract":"<div><p><span>Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary </span>choroidal neovascularization<span><span><span><span>, optic disc pit </span>maculopathy, and optic nerve head tumors and granulomas. </span>Optical coherence tomography<span> (OCT) helps to visualize peripapillary fluid in many other chorioretinal conditions such as peripapillary pachychoroid syndrome, posterior uveitis<span>, central retinal vein occlusion<span><span>, malignant hypertension, hypotonic maculopathy as well as neuro-ophthalmological conditions such as glaucoma, microcystic </span>macular edema and disc edema due </span></span></span></span>papilledema<span>, non-arteritic anterior ischemic optic neuropathy, neuroretinitis, and diabetic papillopathy. Often, the differential diagnosis of peripapillary fluid is a bit tricky and may lead to misdiagnosis and improper management. We describe a diagnostic algorithm for peripapillary fluid on OCT and outline the salient features and management of these conditions.</span></span></p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138452544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-24DOI: 10.1016/j.survophthal.2023.11.008
Anubhav Garg , Keean Nanji , Felicia Tai , Mark Phillips , Dena Zeraatkar , Sunir J. Garg , SriniVas R. Sadda , Peter K. Kaiser , Robyn H. Guymer , Sobha Sivaprasad , Charles C. Wykoff , Varun Chaudhary
With the introduction of therapies to treat geographic atrophy (GA), GA management in clinical practice is now possible. A living systematic review can provide access to timely and robust evidence synthesis. This review found that complement factor 3 and 5 (C3 and C5) inhibition compared to sham likely reduces change in square root GA area at 12 months and untransformed GA area at 24 months. There is likely little to no difference in the rate of systemic treatment-emergent adverse events compared to sham. C3 and C5 inhibition, however, likely does not improve best-corrected visual acuity (BCVA) at 12 months, and the evidence is uncertain regarding change in BCVA at 24 months. Higher rates of ocular treatment emergent adverse effects with complement inhibition occur at 12 months and likely at 24 months. Complement inhibition likely results in new onset neovascular age-related macular degeneration at 12 months. This living meta-analysis will continuously incorporate new evidence.
{"title":"The effect of complement C3 or C5 inhibition on geographic atrophy secondary to age-related macular degeneration: A living systematic review and meta-analysis","authors":"Anubhav Garg , Keean Nanji , Felicia Tai , Mark Phillips , Dena Zeraatkar , Sunir J. Garg , SriniVas R. Sadda , Peter K. Kaiser , Robyn H. Guymer , Sobha Sivaprasad , Charles C. Wykoff , Varun Chaudhary","doi":"10.1016/j.survophthal.2023.11.008","DOIUrl":"10.1016/j.survophthal.2023.11.008","url":null,"abstract":"<div><p><span>With the introduction of therapies<span> to treat geographic atrophy (GA), GA management in clinical practice is now possible. A living </span></span>systematic review<span> can provide access to timely and robust evidence synthesis. This review found that complement factor 3 and 5 (C3 and C5) inhibition compared to sham likely reduces change in square root GA area at 12 months and untransformed GA area at 24 months. There is likely little to no difference in the rate of systemic treatment-emergent adverse events compared to sham. C3 and C5 inhibition, however, likely does not improve best-corrected visual acuity (BCVA) at 12 months, and the evidence is uncertain regarding change in BCVA at 24 months. Higher rates of ocular treatment emergent adverse effects with complement inhibition occur at 12 months and likely at 24 months. Complement inhibition likely results in new onset neovascular age-related macular degeneration at 12 months. This living meta-analysis will continuously incorporate new evidence.</span></p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-23DOI: 10.1016/j.survophthal.2023.11.009
Stella Weng Chi Sio , Benson Kang To Chan , Fatema Mohamed Ali Abdulla Aljufairi , Jake Uy Sebastian , Kenneth Ka Hei Lai , Clement Chee Yung Tham , Chi Pui Pang , Kelvin Kam Lung Chong
Diagnosis of dysthyroid optic neuropathy (DON) typically relies on a set of diagnostic clinical features, including decreased visual acuity, impaired color vision, presence of relative afferent pupillary defect, optic disc swelling and ancillary tests including visual field (VF), pattern visual evoked potential (pVEP), and apical crowding or optic nerve stretching on neuroimaging. We summarize various diagnostic methods to establish or rule out DON. A total of 95 studies (involving 4619 DON eyes) met the inclusion criteria. All of the studies considered clinical features as evidence of DON, while most of the studies confirmed DON diagnosis by combining clinical features with ancillary tests. Forty studies (42.1%) used at least 2 out of the 3 tests (VF, pVEP and neuroimaging) and 13 studies (13.7%) used all 3 tests to diagnose DON. In 64 % of the published studies regarding DON, the diagnostic methods of DON were not specified. It is important to note the limitations of relying solely on clinical features for diagnosing DON. On the other hand, since some eyes with optic neuropathy can be normal in one ancillary test, but abnormal in another, using more than one ancillary test to aid diagnosis is crucial and should be interpreted in correlation with clinical features. We found that the diagnostic methods of DON in most studies involved using a combination of specific clinical features and at least 2 ancillary tests.
{"title":"Diagnostic methods for dysthyroid optic neuropathy: A systematic review and analysis","authors":"Stella Weng Chi Sio , Benson Kang To Chan , Fatema Mohamed Ali Abdulla Aljufairi , Jake Uy Sebastian , Kenneth Ka Hei Lai , Clement Chee Yung Tham , Chi Pui Pang , Kelvin Kam Lung Chong","doi":"10.1016/j.survophthal.2023.11.009","DOIUrl":"10.1016/j.survophthal.2023.11.009","url":null,"abstract":"<div><p>Diagnosis of dysthyroid optic neuropathy (DON) typically relies on a set of diagnostic clinical features, including decreased visual acuity<span><span>, impaired color vision, presence of relative afferent pupillary defect, </span>optic disc swelling and ancillary tests including visual field (VF), pattern visual evoked potential (pVEP), and apical crowding or optic nerve stretching on neuroimaging. We summarize various diagnostic methods to establish or rule out DON. A total of 95 studies (involving 4619 DON eyes) met the inclusion criteria. All of the studies considered clinical features as evidence of DON, while most of the studies confirmed DON diagnosis by combining clinical features with ancillary tests. Forty studies (42.1%) used at least 2 out of the 3 tests (VF, pVEP and neuroimaging) and 13 studies (13.7%) used all 3 tests to diagnose DON. In 64 % of the published studies regarding DON, the diagnostic methods of DON were not specified. It is important to note the limitations of relying solely on clinical features for diagnosing DON. On the other hand, since some eyes with optic neuropathy can be normal in one ancillary test, but abnormal in another, using more than one ancillary test to aid diagnosis is crucial and should be interpreted in correlation with clinical features. We found that the diagnostic methods of DON in most studies involved using a combination of specific clinical features and at least 2 ancillary tests.</span></p></div>","PeriodicalId":22102,"journal":{"name":"Survey of ophthalmology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}