Ophthalmic Research最新文献

{"title":"Patient Preferences with Anti-Vascular Endothelial Growth Factor Treatment for Neovascular Age-Related Macular Degeneration and Diabetic Macular Edema: A Multinational Discrete Choice Experiment Study.","authors":"Alfredo García-Layana, Gloria C Chi, Laurent Kodjikian, Mariacristina Parravano, David Chow, Timothy L Jackson, Carl Danzig, Liliana P Paris, Mirela Mirt, Mickael Henry-Szatkowski, Hannah B Lewis, Brittany Gentile","doi":"10.1159/000541349","DOIUrl":"https://doi.org/10.1159/000541349","url":null,"abstract":"<p><strong>Introduction: </strong>New anti-vascular endothelial growth factor (VEGF) treatments are emerging for the treatment of diabetic macular edema (DME)/neovascular age-related macular degeneration (nAMD). This study aimed to explore the treatment attributes patients find important when deciding on treatment options.</p><p><strong>Methods: </strong>This noninterventional survey study assessed treatment preferences through a discrete choice experiment (DCE) among patients with DME/nAMD in the United States, Canada, France, Italy, Spain, and the United Kingdom. The DCE design was informed by a targeted literature review and qualitative interview research and included five treatment attributes: mode of administration, frequency of examinations, frequency of injections or refills, likely change in visual acuity, and eye-related side effects. Conditional logit models were used to analyze the choice data.</p><p><strong>Results: </strong>Overall, 537 patients completed the DCE (DME, n = 173; nAMD, n = 364). Patients reported preferring \"injection\" over \"implant surgery and refills\" and better visual outcomes over \"stabilization\", which were also the most important attributes driving preference (35.1% and 31.5%, respectively). They also showed a preference for less-frequent treatment and examinations and for \"mild-moderate, frequent\" over \"severe, rare\" side effects. These findings were generally consistent across the two conditions, although significant differences were found depending on anti-VEGF treatment duration (nAMD, DME) and number of reported barriers (nAMD).</p><p><strong>Conclusion: </strong>Patient preferences for treatment are driven by several factors. Considering these is essential when designing/introducing new therapies. Individual treatment preferences should be identified and given key consideration when helping patients select from an expanding array of treatment options.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"1-17"},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Worldwide burden of retinoblastoma from 1990-2021.","authors":"Yaling Feng, Xiaoyi Feng, Yun Lv","doi":"10.1159/000542193","DOIUrl":"https://doi.org/10.1159/000542193","url":null,"abstract":"<p><strong>Introduction: </strong>To report the global, regional, and national burden of retinoblastoma between 1990 and 2021, by age, sex, and sociodemographic index (SDI).</p><p><strong>Methods: </strong>We leveraged the Global Burden of Disease 2021 Study to elucidate the epidemiological landscape of retinoblastoma, encompassing prevalence, incidence, mortality, and disability-adjusted life years (DALYs) across 204 nations and territories spanning the period from 1990 to 2021. The SDI was employed to evaluate the interplay between socio-economic development and the burden of retinoblastoma.</p><p><strong>Results: </strong>In 2021, global estimates unveiled 57,333 prevalent cases of retinoblastoma, yielding 6,274 incident cases, 2,762 deaths, and 243,204 DALYs. Globally, the age-standardized prevalence, incidence, mortality, and DALY rates for retinoblastoma in 2021 were 0.86, 0.09, 0.04, and 3.65 per 100,000 population, respectively. Tokelau, Kenya, and Portugal demonstrated the highest age-standardized prevalence and incidence rates of retinoblastoma in 2021. The global prevalence of retinoblastoma peaks among children aged 2 to 4 years and subsequently declines with increasing age. At the regional level, the correlation between SDI and age-standardized prevalence rates for retinoblastoma manifested a V-shaped pattern.</p><p><strong>Conclusions: </strong>This comprehensive examination of retinoblastoma epidemiological trends underscores the imperative for heightened vigilance and more efficacious therapeutic interventions, especially within resource-limited environments. The findings accentuate the need for targeted strategies to address the disparate burden of retinoblastoma across diverse socioeconomic landscapes.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"1-17"},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anp32b-deficiency suppresses ocular development by repression of Pax6.","authors":"Yu-Sheng Wei, Hao-Ran Liu, Qian Yang, Zhe Zhi, Yun Yu","doi":"10.1159/000542447","DOIUrl":"https://doi.org/10.1159/000542447","url":null,"abstract":"<p><p>Introduction This study aims to elucidate the role and molecular mechanisms of acidic leucine-rich nuclear phosphoprotein 32kDa B (Anp32b)-deficiency in ocular development. Methods We used constitutive C57BL/6-derived Anp32b-/- mice to elucidate the role of Anp32b in ocular development, including the phenotype and proportion of eye malformation in different genotypes. RNA-Seq analysis and rescue experiments were performed to investigate the underlying mechanisms of Anp32b. Results Deletion of Anp32b contributes to severe defects in ocular development, including anophthalmia and microphthalmia. Moreover, Anp32b is highly expressed in the lens, and Anp32b-/- embryos with microphthalmia often exhibit severely impaired lens development. Mechanistically, ANP32B directly interacts with paired box protein 6 (PAX6), a master transcriptional regulator, and enhances its transcriptional activity. Overexpression of PAX6 partially but significantly reverses the inhibition of proliferation observed in ANP32B knockdown lens epithelial cells. Conclusions Our findings indicate that Anp32b-deficiency suppresses ocular development by repressing Pax6 and identify that Anp32b is a viable therapeutic target for ocular developmental defects.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"1-13"},"PeriodicalIF":2.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal changes in choroidal thickness and choroidal vascularity index in age-related macular degeneration.","authors":"Lourdes Vidal-Oliver, Sabrina Spissinger, Elisa Herzig-de Almeida, Davide Garzone, Robert P Finger","doi":"10.1159/000541481","DOIUrl":"https://doi.org/10.1159/000541481","url":null,"abstract":"<p><strong>Introduction: </strong>To investigate the rate of choroidal thinning and choroidal vascularity index (CVI) changes over time in eyes with different stages of age-related macular degeneration (AMD) and control eyes.</p><p><strong>Methods: </strong>Retrospective longitudinal study of 105 eyes with different stages of AMD: non-advanced (n=46), exudative (n=28), central cRORA (n=5) and healthy eyes (n=26). We evaluated choroidal thickness (CT) and CVI at baseline and during 2-4 years of follow-up. After adjustment for age and sex, we estimated the rate of change per year of CT and CVI in each group. We also performed logistic regression to analyze the relationship between baseline CT and CVI with AMD progression.</p><p><strong>Results: </strong>The mean age of the included patients was 77.1 years with a mean follow-up of 3.36 years. Healthy eyes had higher baseline CT and CVI values compared to eyes with AMD. Exudative AMD showed a significant annual decrease in subfoveal CT (-5.1% per year vs. -3.5% in controls) and in the temporal and nasal sectors (-5.3% and -6.3%). CVI decreased during follow-up in all study groups, most in eyes with central cRORA (-1.09% per year).</p><p><strong>Conclusion: </strong>CVI and CT values are reduced in eyes with AMD compared to healthy eyes. Eyes with exudative AMD have the highest annual rate of choroidal thinning, while CVI decreases most in eyes with central cRORA. CT and CVI may aid in a further stratification of AMD progression risk.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"1-20"},"PeriodicalIF":2.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of retinal and choroidal microvasculature in systemic sclerosis using optical coherence tomography angiography: A systematic review and meta-analysis.","authors":"Fatemeh Lohrasbi, Elaheh Karimi, Mahdi Gouravani, Shahnaz Fooladi Sarabi, Amirreza Mafi, Alireza Beikmarzehei, Hossein Sanjari Moghaddam, Mohammadamin Parsaei, Seyed Mehdi Tabatabaei, J Fernando Arevalo","doi":"10.1159/000542413","DOIUrl":"https://doi.org/10.1159/000542413","url":null,"abstract":"<p><strong>Introduction: </strong>Optical coherence tomography angiography (OCTA) is an emerging technique to investigate retinal and choroidal microvascular alterations in patients with systemic sclerosis (SSc). This systematic review and meta-analysis aimed to evaluate the features of retinal and choroidal microvasculature using OCTA among SSc patients.</p><p><strong>Methods: </strong>The methodology of the study was based on PRISMA guidelines. PubMed, Scopus, Web of Science, and Embase were searched systematically on November 25, 2023, for relevant studies utilizing OCTA as the main diagnostic tool to assess the retinal and choroidal microvasculature in SSc patients versus healthy controls. Random-effect or fixed model meta-analysis was used based on the heterogeneity of studies.</p><p><strong>Results: </strong>Eleven observational comparative studies, including 366 patients with SSc and 350 healthy controls, conducted between 2020 and 2023, were included in this review. Meta-analysis findings revealed a significant decrease in vessel densities in both the superficial and deep capillary plexuses (SCP and DCP) among SSc patients compared to controls. However, there were no significant differences observed in the foveal avascular zone (FAZ) area and choriocapillary flow area (CCFA) between SSc patients and controls. Moreover, central macular thickness (CMT) consistently exhibited a decrease in SSc patients, while retinal nerve fiber layer (RNFL) thickness showed no significant differences. Although radial peripapillary capillary (RPC) vessel density, subfoveal choroidal thickness (CMT), and cup/disc ratio yielded mixed results, with some studies indicating significant changes in the SSc group, meta-analysis could not be performed due to variations in the OCTA machines used across the included studies.</p><p><strong>Conclusion: </strong>This systematic review demonstrates retinal and choroidal microvascular abnormalities in SSc using OCTA. Longitudinal studies are needed to understand how these abnormalities evolve over time in patients with SSc and whether these abnormalities correlate with the clinical features of SSc.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"1-29"},"PeriodicalIF":2.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of intracameral mydriatics in pediatric lens surgery.","authors":"Luc Van Os, Kristien Wouters, Hanne Herbots, William Aerts, Catalina Dumitrascu, Iske De Backer, Carine Smitz, Alexander L N van Nuijs, Adrian Covaci, Vera Saldien, Marie-José B R Tassignon","doi":"10.1159/000542192","DOIUrl":"https://doi.org/10.1159/000542192","url":null,"abstract":"<p><p>Introduction To evaluate the efficacy of intracameral administration of Mydrane® in children undergoing lens surgery. Methods We set up a single center prospective cohort trial including 40 consecutive patients between 8 weeks and 17 years old who were planned for lens surgery, including cataract, persistent fetal vasculature (PFV) or lens subluxation. We injected 0,1 ml of intracameral Mydrane at the beginning of surgery, no preoperative mydriatic eye drops were used. The aim of the study was to measure pupil size, and to monitor the evolution of the pupil size during surgery and the need for additional pupil expanding techniques. Results In 30 patients (75% (95%CI: 59 - 87%)), we did not need additional manipulations to obtain sufficient pupillary dilatation to perform the surgery and to implant an intraocular lens (IOL) following the bag-in-the-lens (BIL) technique. In the remaining 10 patients (25%), we saw an initiation of dilatation, but not to the required pupil diameter to continue the surgery without additional surgical maneuvers. The duration of surgery was significantly longer in the partial response group, reflecting the need for additional surgical steps. A significant relation between increase of pupillary diameter and age (P = 0.003), gender (P = 0.032) and horizontal corneal diameter (P < 0.001) could be shown. Even at baseline there is a larger pupil diameter in eyes with larger horizontal corneal diameters (p=0.039). No adverse events were observed during this study. Conclusion Intracameral administration of Mydrane resulted in some degree of dilatation in all eyes in this series, 75% of eyes did not need additional techniques to proceed with the surgery. Smaller pupils at baseline, younger age, male sex and small horizontal corneal diameter were related to a poorer response to Mydrane. The mydriasis persisted for the entire duration of the surgery, no ocular adverse events were observed during this study. This leads us to conclude that intracameral Mydrane is an effective and safe way to dilate the pupil in pediatric lens surgery.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"1-14"},"PeriodicalIF":2.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical outcomes after implantation of a novel binocular complementary extended depth of focus intraocular lens compared to bilateral low near-add multifocal intraocular lenses.","authors":"Hannah Ivellio-Vellin,Manuel Ruiss,Julius Hienert,Stefan Georgiev,Caroline Pilwachs,Andreea Fisus,Oliver Findl","doi":"10.1159/000541308","DOIUrl":"https://doi.org/10.1159/000541308","url":null,"abstract":"INTRODUCTIONAim of this study was to assess the clinical outcomes of two diffractive intraocular lenses (IOL): a novel binocular complementary IOL compared to a conventional low near-add multifocal IOL (MIOL).METHODSPatients scheduled for cataract surgery were randomly allocated into two groups receiving either binocular complementary optical systems (ARTIS SYMBIOSE Mid and Plus, Cristalens, France) or low near-add MIOL (AT LARA, Carl Zeiss Meditec AG, Germany). Patients had visual acuity (VA) assessment at distance, intermediate, and near as well as evaluation of contrast sensitivity, halometry and reading performance.RESULTSIn total, 56 eyes of 28 patients were enrolled. At 6 months, there were no statistically significant differences in visual acuity between the ARTIS SYMBIOSE and the AT LARA. Contrast sensitivity at 1.5 cycles per degree under photopic conditions without glare was 1.54 logCS with the ARTIS SYMBIOSE and 1.43 logCS with the AT LARA (p=0.046), under mesopic conditions with glare at 1.5 and 3 cycles per degree 1.31 logCS and 1.28 logCS with the ARTIS SYMBIOSE, respectively, compared to 0.58 logCS and 0.51 logCS with the AT LARA (p=0.002; p=0.006). Halos and reading performance between both groups were similar.CONCLUSIONThere were no significant differences between both groups in visual acuity at different distances, reading ability or halometry. The contrast sensitivity at low spatial frequencies was better in the ARTIS SYMBIOSE group under photopic conditions with and without glare as well as mesopic conditions with glare.","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":"82 1","pages":"1-17"},"PeriodicalIF":2.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of the Complement Factor H Y402H Polymorphism and Response to Anti-Vascular Endothelial Growth Factor Treatment in Age-related Macular Degeneration: An Updated Meta-analysis.","authors":"Amirhossein Roshanshad, Seyed Ali Moosavi, J Fernando Arevalo","doi":"10.1159/000539377","DOIUrl":"https://doi.org/10.1159/000539377","url":null,"abstract":"<p><strong>Introduction: </strong>Anti-vascular endothelial growth factor (anti-VEGF) agents have a variable effect on patients with age-related macular degeneration (AMD) that has been attributed to several causes, including genetic factors. We evaluated the effects of Complement Factor H (CFH) rs1061170/Y402H polymorphism on the response to anti-VEGF therapy among AMD patients.</p><p><strong>Methods: </strong>PubMed, Scopus, EMBASE, Web of Science, and Google Scholar were used for a literature search. Pooled odds ratios (ORs) and their 95% confidence intervals (CIs) were estimated to assess the effects of CFH Y402H polymorphism on the response to anti-VEGF therapy in AMD. I2 was used to present the amount of heterogeneity. We used STATA version 14.0 software.</p><p><strong>Results: </strong>Twenty-five papers reporting data for 4681 patients were included in this study. Better response to anti-VEGF therapy was seen in T over C (OR=1.25, 95%CI=1.04-1.50), TT over CC (OR=1.60, 95%CI=1.06-2.4), and TT+TC over CC (OR=1.68, 95%CI=1.23-2.28) genotypes. There was no significant difference in three other genetic models (TT vs. TC, TT vs. TC+CC, TC vs. TT+CC). In Asians, no significant difference was observed in all six genetic models. Ranibizumab and bevacizumab had similar efficacy; however, conbercept was more effective in homozygous genotypes. The literature indicated that TT and TC genotypes and T allele were associated with a better functional response, while the CC genotype and C alleles had a better anatomical response. The combination of risk alleles in ARMS2 A69S (rs10490924), VEGF-A (rs699947), and VEGF-A (rs833069) with Y420H is a predictor of non-respondents.</p><p><strong>Conclusion: </strong>In patients with AMD, the CFH Y402H is a predictor of the response to anti-VEGF agents and should be considered in the treatment plan.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140958674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recalled age of myopia onset may predict risk of high adult myopia in Chinese adults.","authors":"Chunjie Mao, Xiaodan Zhang, Mengyu Liao, Fengqi Zhou, Xinlei Zhu, Tian Wang, Ruotian Xie, Haokun Zhang, Tiantian Yang, Kai He, Miao Guo, Yanfang Zhu, Yi Lei, Yiming Li, Ling Yao, Bohao Cui, Yuyang Miao, Han Han, Xiao Zhao, Yinting Song, Zhiyong Sun, Jinguo Yu, Wei Zhou, Yun Zhu, Hua Yan","doi":"10.1159/000538442","DOIUrl":"https://doi.org/10.1159/000538442","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to investigate the relationship between age of myopia onset and high myopia and to explore if age of onset mediated the associations of high myopia with parental myopia and time spent on electronics.</p><p><strong>Methods: </strong>This cross-sectional study enrolled 1118 myopic patients aged 18 to 40. Information was obtained via a detailed questionnaire. Multivariable logistic regression and linear regression models were utilized to assess age of onset in relation to high myopia and spherical equivalent refractive error, respectively. Structural equation models examined the mediated effect of onset age on the association between parental myopia, time spent on electronics and high myopia.</p><p><strong>Results: </strong>An early age at myopia onset was negatively correlated with spherical equivalent refractive power. Subjects who developed myopia before the age of 12 were more likely to suffer from high myopia than those who developed myopia after the age of 15. Age of myopia onset was the strongest predictor of high myopia, with an area under the curve (AUC) in Receiver Operator Characteristic (ROC) analysis of 0.80. Additionally, age of myopia onset served as a mediator in the relationships between parental myopia, electronic device usage duration, and the onset of high myopia in adulthood.</p><p><strong>Conclusions: </strong>Age of myopia onset might be the single best predictor for high myopia, and age at onset appeared to mediate the associations of high myopia with parental myopia and time spent on electronics.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140331953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.","authors":"Giacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, Karolina Kaminska, Rupert Wolfgang Strauss, Elfride De Baere, Bart P Leroy, Isabelle Audo, Christina Zeitz, Claus Cursiefen, Katarina Stingl, Camiel J F Boon, João Pedro Marques, Cristina Santos, Carmen Ayuso Garcia, Pascal Escher, M Francesca Cordeiro, Fabiana D'Esposito, Peter Charbel Issa, Andrew Lotery, Siying Lin, Michel Michaelides, Carlo Rivolta, Hendrik P N Scholl","doi":"10.1159/000540607","DOIUrl":"10.1159/000540607","url":null,"abstract":"<p><strong>Introduction: </strong>The purpose of this project was to explore the current standards of clinical care genetic testing and counseling for patients with inherited retinal diseases (IRDs) from the perspective of leading experts in selected European countries. Also, to gather opinions on current bottlenecks and future solutions to improve patient care.</p><p><strong>Methods: </strong>On the initiative of the European Vision Institute, a survey questionnaire with 41 questions was designed and sent to experts in the field from ten European countries. Each participant was asked to answer with reference to the situation in their own country.</p><p><strong>Results: </strong>Sixteen questionnaires were collected by November 2023. IRD genetic tests are performed in clinical care settings for 80% or more of tested patients in 9 countries, and the costs of genetic tests in clinical care are covered by the public health service to the extent of 90% or more in 8 countries. The median proportion of patients who are genetically tested, the median rate of genetically solved patients among those who are tested, and the median proportion of patients receiving counseling are 51-70%, 61-80%, and 61-80%, respectively. Improving the education of healthcare professionals who facilitate patient referrals to specialized centers, improving access of patients to more thorough genotyping, and increasing the number of available counselors were the most advocated solutions.</p><p><strong>Conclusion: </strong>There is a significant proportion of IRD patients who are not genetically tested, whose genetic testing is inconclusive, or who do not receive counseling. Educational programs, greater availability of state-of-the-art genotyping and genetic counselors could improve healthcare for IRD patients.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"448-457"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}