Ophthalmic Genetics最新文献_第6页

Mesencephalic astrocyte-derived neurotrophic factor upregulates CHOP and ATF6 in the rat retina with retinitis pigmentosa. 中脑星形细胞源性神经营养因子上调色素性视网膜炎大鼠视网膜CHOP和ATF6。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2025-03-20 DOI: 10.1080/13816810.2025.2482610

Zhenya Gao, Hongge Hu, Yanming Huang, Fang Yu, Bin Lou

{"title":"Mesencephalic astrocyte-derived neurotrophic factor upregulates CHOP and ATF6 in the rat retina with retinitis pigmentosa.","authors":"Zhenya Gao, Hongge Hu, Yanming Huang, Fang Yu, Bin Lou","doi":"10.1080/13816810.2025.2482610","DOIUrl":"10.1080/13816810.2025.2482610","url":null,"abstract":"Purpose: In the current work, we investigated the potential protective function of MANF against the degeneration of RP in S334ter-3 rats and the mechanism underlying these effects.Methods: The left eye of rat was injected with MANF, and the right eye injected PBS as a control. The levels of those ER stress associated proteins were determined by western blot analysis.Results: First, those ER stress associated proteins were detected in S334ter-3 rats. Among these proteins, a decrease in the expression of PERK was only showed from PD 6 to PD 12. Surprisingly, a dramatic increase of ATF6 was induced by injection MANF. Then, the expression of ATF6 protein declined rapidly to the control eye. Furthermore, a remarkable increase in the expression of CHOP was examined at 6 h, which peaked at 12 h and maintained the level until 48 h. At the same time, CHOP was detected in Müller cells but not in photoreceptor; nevertheless, photoreceptor survival clearly improved. The increasing expressions of CHOP and ATF6 in SD rats were similar to the changes in S33ter-3 rats after injection MANF.Conclusions: These results indicate that MANF may play an important role in protecting photoreceptor degeneration in RP.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"380-388"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670549","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}

引用次数: 0

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant. 与 WFS1 变异相关的综合征性视神经萎缩的表型谱：p.Val606Gly 被重新分类为可能的良性变异。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2024-11-18 DOI: 10.1080/13816810.2024.2426561

Sarah Hull, Leo Sheck, Geoff Braatvedt, Frances Mouat, Craig Jefferies, Patrick Yap, Rinki Murphy, Andrea L Vincent

{"title":"The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.","authors":"Sarah Hull, Leo Sheck, Geoff Braatvedt, Frances Mouat, Craig Jefferies, Patrick Yap, Rinki Murphy, Andrea L Vincent","doi":"10.1080/13816810.2024.2426561","DOIUrl":"10.1080/13816810.2024.2426561","url":null,"abstract":"Introduction: Wolfram syndrome due to bi-allelic variants in WFS1 and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described.Methods: A retrospective observational case series with detailed ophthalmic and systemic phenotyping, optical coherence tomography (OCT), and neuroimaging. Molecular investigations included gene panel and targeted Sanger sequencing.Results: Eight patients (six female, two male) from six families were diagnosed with optic atrophy at a mean age of 15.5 ± 6.2 years (range 8-23) with mean follow-up of 3.2 ± 3.4 years (range 1.5-12.1). Three were asymptomatic. Mean presenting visual acuity was 0.31 ± 0.26 logMAR (Snellen equivalent 20/40). Diabetes mellitus was present in five patients (detected after screening in one), sensorineural hearing loss in five and diabetes insipidus in one. Other systemic features included psychiatric disorders in four patients and bladder dysfunction in three patients. OCT demonstrated marked nerve fiber layer loss in all patients. In dominant disease, macular OCT demonstrated a linear splitting abnormality of the outer plexiform layer (OPL) not found in recessive disease. Three novel variants in WFS1 were identified. After identification of the p.Val606Gly variant in three Māori patients including one with cone-rod retinal dystrophy, a reference database of 80 Māori/Pasifika patients with retinal dystrophy/optic atrophy was interrogated. This identified the variant in 10 patients with disease attributed to other genes.Conclusions: In Wolfram syndrome, systemic features are variable. Pathognomonic OPL lamination is associated with dominant disease. Early recognition of potentially syndromic optic atrophy allows prompt diagnosis of unrecognized diabetes mellitus.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"362-369"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648109","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}

引用次数: 0

Cone Rod Homeobox (CRX): literature review and new insights. 锥杆Homeobox (CRX)：文献综述及新见解。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2025-03-12 DOI: 10.1080/13816810.2025.2458086

Arnold Leigh, Anand Swaroop, Kamil Kruczek, Ehsan Ullah, Brian P Brooks

引用次数: 0

Honoring Professor Andreas Gal. 尊敬的Andreas Gal教授。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2025-08-30 DOI: 10.1080/13816810.2025.2536658

Elias I Traboulsi, Brian Brooks

引用次数: 0

Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features. 区分 ABCA4 和 PRPH2 相关疾病：检查和成像特征的定性分析。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2024-11-25 DOI: 10.1080/13816810.2024.2432064

Kenneth C Fan, Calvin W Wong, Braden A Nichols, Roa Sadat, Troy C Becker, David M Brown, Charles C Wykoff

{"title":"Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features.","authors":"Kenneth C Fan, Calvin W Wong, Braden A Nichols, Roa Sadat, Troy C Becker, David M Brown, Charles C Wykoff","doi":"10.1080/13816810.2024.2432064","DOIUrl":"10.1080/13816810.2024.2432064","url":null,"abstract":"Introduction: ABCA4 and PRPH2-related diseases are both phenotypically heterogeneous and clinically difficult to differentiate. There may be examination and imaging features that can aid in establishing a clinical diagnosis.Methods: A single-center, retrospective, consecutive case series including patients with a molecular confirmation of pathologic variants in either the ABCA4 or PRPH2 were included. Chi-square analysis, Fisher exact test, and Student's t-test comparing prevalence of specific examination and imaging features between ABCA4 and PRPH2.Results: Of the 127 eyes from 64 patients included, the ABCA4 group was more significantly associated with peripapillary sparing on both fundus imaging (73% vs. 40%; p = 0.006) and FAF (71% vs. 44%; p = 0.025), macular (64% vs. 12%; p < 0.001) and peripheral pisciform flecks (22% vs. 3.6%; p = 0.025). The PRPH2 group was more highly associated with macular chorioretinal atrophy (86% vs. 55%; p = 0.003).Conclusions: Peripapillary sparing and pisciform flecks are more highly associated with ABCA4-related disease, while macular chorioretinal atrophy is more highly associated with PRPH2-related disease. Logistic regression demonstrates that bull's eye maculopathy and macular flecks are predictive of the ABCA4 genotype.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"347-353"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716799","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}

引用次数: 0

Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects. 基于干细胞的视网膜疾病疗法：临床试验重点与未来展望。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2024-11-15 DOI: 10.1080/13816810.2024.2423784

Sagnik Sen, Thales Antonio Cabral de Guimaraes, Aluisio Gameiro Filho, Lorenzo Fabozzi, Rachael A Pearson, Michel Michaelides

{"title":"Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects.","authors":"Sagnik Sen, Thales Antonio Cabral de Guimaraes, Aluisio Gameiro Filho, Lorenzo Fabozzi, Rachael A Pearson, Michel Michaelides","doi":"10.1080/13816810.2024.2423784","DOIUrl":"10.1080/13816810.2024.2423784","url":null,"abstract":"Stem cell-based therapy has gained importance over the past decades due to huge advances in science and technology behind the generation and directed differentiation of pluripotent cells from embryos and adult cells. Preclinical proof-of-concept studies have been followed by clinical trials showing efficacy and safety of transplantation of stem cell-based therapy, which are beginning to establish this as a modality of treatment. Disease candidates of interest are primarily conditions that may benefit from replacing dead or dying cells, including advanced inherited retinal dystrophies and age-related macular degeneration, and predominantly seek to transplant either RPE or photoreceptors, although neurotrophic approaches have also been trialed. Whilst a consensus has yet to be reached about the best stage/type of cells for transplantation (stem cells, progenitor cells, differentiated RPE and photoreceptors) and the methods of implantation (sheet, suspension), several CTs have shown safety. There remain potential concerns regarding tumorigenicity and immune rejection; however, with ongoing improvements in cell generation, selection, and delivery, these can be minimized. Earlier studies showed efficacy with immunosuppressive drugs to prevent rejection, and recent donor-matched transplants have avoided the need for immunosuppression. Retinal regenerative medicine is a challenging field and is in a nascent stage but holds tremendous promise. This narrative review delves into the current understanding of stem cells and the latest clinical trials of retinal cell transplantation.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"324-337"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625218","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}

引用次数: 0

Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing. 全基因组测序鉴定出导致先天性静止性夜盲症的CACNA1F新结构变异。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-07-31 DOI: 10.1080/13816810.2025.2540407

Mayra Martinez Sanchez, Nafiza Meher, Hanna DeBruyn, Ashish Jain, Liang Sun, Samet Gulkas, Pablo Altschwager, Anne Fulton, Mary C Whitman

{"title":"Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing.","authors":"Mayra Martinez Sanchez, Nafiza Meher, Hanna DeBruyn, Ashish Jain, Liang Sun, Samet Gulkas, Pablo Altschwager, Anne Fulton, Mary C Whitman","doi":"10.1080/13816810.2025.2540407","DOIUrl":"https://doi.org/10.1080/13816810.2025.2540407","url":null,"abstract":"Background: Infantile nystagmus syndrome is often the presenting symptom of an underlying retinal disorder, such as Congenital Stationary Night Blindness (CSNB). CSNB, an inherited retinal disorder affecting rod mediated \"night\" vision, has several known genetic causes. Despite advances in genetic testing, structural variants can be difficult to detect using traditional methods like whole exome sequencing.Case presentation: We present a case involving a novel structural variant in CACNA1F, detected through whole genome sequencing (WGS), in an 8-year-old boy who initially presented with infantile nystagmus and high myopia. The CACNA1F variant consists of a 380 bp inverted duplication involving exons 41 and 42. Bioinformatics analyses predicted a cryptic exon insertion instead of exon 41, leading to 11 amino acids and a stop codon, resulting in protein truncation. PCR confirmed the presence of the duplication that is hemizygous in the proband and heterozygous in his carrier mother. Although highly myopic, she reports no night vision difficulties.Conclusion: This case illustrates WGS's superior capacity to detect complex genomic rearrangements that conventional exome-focused or gene panel strategies may overlook. Our findings both expand the catalog of known pathogenic variants and underscore the role of WGS in genetic diagnosis.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760724","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}

引用次数: 0

Early symptoms in RPGR-associated retinal degeneration: can we shorten time to diagnosis in the gene therapy era? rgr相关视网膜变性的早期症状：在基因治疗时代我们能缩短诊断时间吗？

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-07-13 DOI: 10.1080/13816810.2025.2525469

Kari Branham, Chris A Andrews, Dejan Milentijevic, Divya Narayanan, K Thiran Jayasundera

{"title":"Early symptoms in RPGR-associated retinal degeneration: can we shorten time to diagnosis in the gene therapy era?","authors":"Kari Branham, Chris A Andrews, Dejan Milentijevic, Divya Narayanan, K Thiran Jayasundera","doi":"10.1080/13816810.2025.2525469","DOIUrl":"https://doi.org/10.1080/13816810.2025.2525469","url":null,"abstract":"Purpose: To describe the earliest characteristics of patients with retinitis pigmentosa GTPase regulator-related retinal degeneration (RPGR-RD).Methods: A retrospective chart review was conducted for patients evaluated at the University of Michigan, Kellogg Eye Center. Patients were classified into 3 phenotypes: rod-cone (RC), cone/cone-rod (CR), and female carriers. Chart review data included clinical diagnosis, age at symptom onset, family history of inherited retinal disease (IRD), patient-reported symptoms, refractive error, and genetic testing information. The relationship between certain covariates and time between (a) symptoms and diagnoses and (b) diagnosis and genetic testing was investigated with proportional hazard modeling.Results: The charts of 131 patients were included: 82 RC, 31 CR, and 18 females. The median (range) ages at symptom onset were: RC, 6 (1-42) years; CR, 28 (1-47) years; and females, 11 (5-34) years. Most (83%) had a family history of IRD. The most common first-documented symptoms were: RC, peripheral vision loss (85%); CR, decreased vision (50%); females, night blindness (57%) and peripheral vision loss (57%). Most patients (80%) were myopic; 24% had high myopia. Time from clinical to genetic diagnosis was shorter given IRD family history (P < 0.001).Conclusion: This study identified characteristics to facilitate earlier diagnosis of RPGR-RD, potentially shortening time to treatment and preventing further vision loss.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.2,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626884","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}

引用次数: 0

Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis. 依地苯酮治疗Leber遗传性视神经病变的疗效：系统回顾和荟萃分析。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-07-13 DOI: 10.1080/13816810.2025.2521647

Paulo Victor Zattar Ribeiro, Lucas Pari Mitre, Mateus M Gauza, Paulo Henrique Furukawa, Victor Evangelista De Faria Ferraz, Israel Gomy

{"title":"Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis.","authors":"Paulo Victor Zattar Ribeiro, Lucas Pari Mitre, Mateus M Gauza, Paulo Henrique Furukawa, Victor Evangelista De Faria Ferraz, Israel Gomy","doi":"10.1080/13816810.2025.2521647","DOIUrl":"https://doi.org/10.1080/13816810.2025.2521647","url":null,"abstract":"Introduction: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by the rapid loss of vision due to the degeneration of retinal ganglion cells. Current therapeutic options are limited. However, idebenone, a synthetic analog of coenzyme Q10, has shown promising neuroprotective properties. This systematic review and meta-analysis aim to evaluate the efficacy of idebenone in improving visual acuity in patients with LHON.Methods: We performed a systematic review on PubMed, Cochrane, and Embase databases on 7 July 2024, for randomized and non-randomized studies analyzing the effect of idebenone on visual acuity in patients with LHON. Analyses were conducted using random-effects models. The main outcome of interest was visual acuity measured by the Logarithm of the Minimum Angle of Resolution (LogMAR). All statistical analyses were performed in R software version 4.3.2, using the \"meta\" and \"metafor\" packages. We registered the study on PROSPERO under protocol number CRD42024617308.Results: Five studies (3 clinical trials and 2 retrospective cohorts) with 375 patients were included. The overall mean LogMAR difference was -0.32 (95% CI: -0.50 to -0.15), with a favorable effect of idebenone as compared to treatment without idebenone. This indicates a meaningful improvement in visual acuity with idebenone therapy, with changes translating to approximately 1.5-5 lines of better visual performance on the LogMAR scale.Conclusion: This systematic review and meta-analysis found a substantial clinical improvement in visual acuity with idebenone therapy among patients with LHON.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626885","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}

引用次数: 0

A review of the role of EFEMP1 in ophthalmic disease. EFEMP1在眼部疾病中的作用综述。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-07-10 DOI: 10.1080/13816810.2025.2524511

Alex J Wood, Imogen Livingstone, Mark Westcott, Dominic Furniss, Akira Wiberg

引用次数: 0