Ophthalmic Genetics最新文献_第2页

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome. 一种新的nr2f1相关的微缺失可能导致Bosch-Boonstra-Schaaf视神经萎缩综合征。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-26 DOI: 10.1080/13816810.2025.2522365

Takaaki Hayashi, Kei Mizobuchi, Akiko Suga, Kazutoshi Yoshitake, Takeshi Iwata

{"title":"A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.","authors":"Takaaki Hayashi, Kei Mizobuchi, Akiko Suga, Kazutoshi Yoshitake, Takeshi Iwata","doi":"10.1080/13816810.2025.2522365","DOIUrl":"https://doi.org/10.1080/13816810.2025.2522365","url":null,"abstract":"Background: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder that typically presents in early childhood. It is characterized by intellectual disability, developmental delay, and visual impairment, with optic atrophy being the most prominent ophthalmologic feature. The nuclear receptor subfamily 2, group F, member 1 (NR2F1) gene is currently the only known causative gene associated with BBSOAS. To date, no cases of BBSOAS have been reported in the Japanese population.Cases presentation: We reported a 13-year-old Japanese male suspected of having BBSOAS, who presented with decreased visual acuity due to bilateral optic atrophy, as well as intellectual disability and developmental delay. Microarray-based comparative genomic hybridization (array-CGH), followed by whole-genome sequencing (WGS), identified a novel de novo 1.48-Mb heterozygous microdeletion involving NR2F1.Conclusions: This is the first reported case of BBSOAS in a Japanese patient. These findings highlight the utility of array-CGH and WGS as powerful tools for detecting NR2F1-related microdeletions. BBSOAS should be considered in the differential diagnosis of patients presenting with developmental delay, intellectual disability, and visual impairment, even in the absence of a family history.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144507336","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 novel deletion-insertion variant of RS1 in X-linked retinoschisis. 在x连锁视网膜裂中发现一种新的RS1缺失-插入变异。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-26 DOI: 10.1080/13816810.2025.2523473

Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Kazuki Kuniyoshi, Hiroyuki Kondo, Tadashi Nakano

{"title":"A novel deletion-insertion variant of RS1 in X-linked retinoschisis.","authors":"Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Kazuki Kuniyoshi, Hiroyuki Kondo, Tadashi Nakano","doi":"10.1080/13816810.2025.2523473","DOIUrl":"https://doi.org/10.1080/13816810.2025.2523473","url":null,"abstract":"Purpose: Structural variants such as large deletions or insertions are rarely observed in the RS1 gene. Here, we report a 20-year-old male patient with X-linked retinoschisis (XLRS) carrying a novel deletion-insertion variant of RS1.Methods: In addition to ophthalmological examinations, molecular genetic analyses were performed using exome sequencing, polymerase chain reaction and Sanger sequencing.Results: The patient was diagnosed with XLRS based on findings from funduscopy, optical coherence tomography, and full-field electroretinography. Exome sequencing identified a deletion of RS1 exon 4, located between exons 19 and 20 of the CDKL5 gene, which is oriented in the reverse direction relative to RS1. Ultimately, we confirmed a 453 bp deletion, including exon 4 of RS1, along with a 15 bp insertion at the deletion site, by verifying sufficient sequencing coverage for exons 19 and 20 of CDKL5.Conclusions: Exome sequencing is valuable not only for detecting single nucleotide variants but also for identifying exon deletions. Determining the coverage of exon regions in the CDKL5 gene can assist in defining deletion-insertion variants in RS1.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144507337","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 case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2. 1例父本证实的新生R124H突变导致颗粒状角膜营养不良2型。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-24 DOI: 10.1080/13816810.2025.2507085

Ji Sang Min, Tae-Im Kim, Kyoung-Jin Shin, Jinseok Choi, R Doyle Stulting, Eung Kweon Kim

{"title":"A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.","authors":"Ji Sang Min, Tae-Im Kim, Kyoung-Jin Shin, Jinseok Choi, R Doyle Stulting, Eung Kweon Kim","doi":"10.1080/13816810.2025.2507085","DOIUrl":"https://doi.org/10.1080/13816810.2025.2507085","url":null,"abstract":"Purpose: To report the first case of granular corneal dystrophy type 2 (GCD2) caused by a de novo p.(Arg124His) mutation that was confirmed by paternity testing in a 13-year-old male patient referred for the evaluation of corneal opacities in the left eye.Study design: Clinical case report.Methods: The p.(Arg124His) mutation was identified using direct Sanger sequencing of the entire TGFBI gene. The patient's parents and sister also underwent ophthalmological examination and direct Sanger sequencing of the entire TGFBI gene.Results: No abnormal findings on ophthalmic examination or genetic mutations were found in the parents. In addition, the patient's biological parents were confirmed using DNA paternity testing.Conclusion: A negative family history of GCD2 and the absence of GCD2 in the parents of patients seeking refractive surgery are not sufficient to exclude a diagnosis of GCD2 because some cases of GCD2 arise from de novo mutations. Exclusion of GCD2 before refractive surgery requires genetic analysis for the p.(Arg124His) mutation.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.2,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144485350","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

Unilateral maculopathy associated with autosomal dominant bestrophinopathy. 单侧黄斑病变与常染色体显性视网膜病变相关。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-24 DOI: 10.1080/13816810.2025.2521657

Miguel Cruz-Pimentel, Thomas Wright, Kenneth T Eng, Brian G Ballios

{"title":"Unilateral maculopathy associated with autosomal dominant bestrophinopathy.","authors":"Miguel Cruz-Pimentel, Thomas Wright, Kenneth T Eng, Brian G Ballios","doi":"10.1080/13816810.2025.2521657","DOIUrl":"https://doi.org/10.1080/13816810.2025.2521657","url":null,"abstract":"Purpose: To describe the presentation of Best Vitelliform Macular Dystrophy (BVMD) as a unilateral maculopathy with bilateral retinal pigment epithelium (RPE) reduced function secondary to molecular changes or variants in BEST1 gene.Methods: Retrospective case series.Results: Both patients exhibited unilateral anatomical changes during fundus examination caused by pathogenic variants in BEST1. These changes were also evident in fundus autofluorescence (FAF) and optical coherence tomography (OCT) images. However, both patients displayed evidence of global RPE dysfunction, which was confirmed by a reduced light peak-to-dark trough amplitude ratio (LP: DT ratio) on the electrooculogram (EOG).Conclusion: Autosomal dominant variants in the BEST1 gene can manifest as unilateral disease. In such cases, it is important to conduct genetic testing promptly to confirm the presence of bestrophinopathy. When counseling the patient, it is essential to discuss the potential for future anatomical involvement in the unaffected eye.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144485351","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

Genetic analysis of participants with foveal hypoplasia. 中央凹发育不全患者的遗传分析。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-23 DOI: 10.1080/13816810.2025.2520411

Raphael Lejoyeux, Vincent Michaud, Hugo Le Boité, Claudio Plaisant, Isabelle Helot, Elodie Philippe, Eulalie Lasseaux, Vivien Vasseur, Karine Fessard, Hervé Picard, Chloe Le Cossec, Sebastien Bruneau, Yannick Le Mer, Benoit Arveiler, Aude Couturier, Sophie Bonnin

{"title":"Genetic analysis of participants with foveal hypoplasia.","authors":"Raphael Lejoyeux, Vincent Michaud, Hugo Le Boité, Claudio Plaisant, Isabelle Helot, Elodie Philippe, Eulalie Lasseaux, Vivien Vasseur, Karine Fessard, Hervé Picard, Chloe Le Cossec, Sebastien Bruneau, Yannick Le Mer, Benoit Arveiler, Aude Couturier, Sophie Bonnin","doi":"10.1080/13816810.2025.2520411","DOIUrl":"10.1080/13816810.2025.2520411","url":null,"abstract":"Introduction: There is few data that investigate the genetic underpinnings of idiopathic foveal hypoplasia and assess its potential overlap with albinism-related gene variants in a cohort devoid of familial albinism history.Methods: This cross-sectional study included 19 participants diagnosed with idiopathic foveal hypoplasia, confirmed via optical coherence tomography (OCT). We detailed ophthalmic evaluations and genotyping using a panel of 33 genes related to foveal hypoplasia.Results: Of the 19 participants, 2 (10%) exhibited heterozygous pathogenic variants in genes typically associated with albinism (TYR and OCA2). Eyes from participants with variants had statistically significant lower central macula thickness than those without.Discussion: The study reveals some albinism-associated variants among participants with idiopathic foveal hypoplasia, suggesting a possible genetic basis for this condition in a subset of cases.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369033","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

Foveal hypoplasia in Myhre syndrome: a novel association. Myhre综合征的中央凹发育不全：一种新的关联。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-22 DOI: 10.1080/13816810.2025.2520408

Helena Van Haecke, Eva Vanbelleghem, Elke O Kreps, Bert Callewaert

引用次数: 0

Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India. 定位视网膜母细胞瘤中RB1基因突变：印度北部200例病例的研究

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-19 DOI: 10.1080/13816810.2025.2518136

Ria Ratna, Akhil Varshney, Shailja Tibrewal, Aman Verma, Atanu Majumdar, Sima Das

{"title":"Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.","authors":"Ria Ratna, Akhil Varshney, Shailja Tibrewal, Aman Verma, Atanu Majumdar, Sima Das","doi":"10.1080/13816810.2025.2518136","DOIUrl":"https://doi.org/10.1080/13816810.2025.2518136","url":null,"abstract":"Retinoblastoma is a pediatric ocular malignancy caused by biallelic inactivation of the RB1 gene, with genetic testing crucial for determining heritability. This retrospective observational study analyzed the genotypic and phenotypic profiles of 200 RB patients from North India who underwent genetic testing at a tertiary eye hospital between January 2022 and April 2024. Targeted RB1 gene analysis was performed using next-generation sequencing on blood samples, with methylation specific-multiplex ligation-dependent probe amplification detecting large deletions or duplications. Phenotypic features, including age of onset, laterality, disease severity, metastasis, and recurrence, were assessed. Among 200 patients, 113 had unilateral RB, 85 bilateral, and two trilateral, with mean onset ages of 33 months for unilateral and 14 months for bilateral cases. Intraocular tumors were present in 84%, extraocular extension in 16%, and metastasis in 16% of cases. Pathogenic RB1 variations were identified in 48% of patients, predominantly in bilateral cases (77.08%). A trend toward mutation clustering in exons 14-21 was observed in 57% of patients. While bilateral disease showed a statistically significant correlation with genotype for non-sense variations (p = 0.05); no other clinical features were linked to specific mutations. This study highlights unique regional genotypic patterns and emphasizes the potential for cost-effective testing strategies in resource-limited settings.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.2,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326476","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

Genotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease. 伊朗视网膜血管母细胞瘤患者基因型-表型相关性及Von Hippel-Lindau病的遗传诊断算法

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-12 DOI: 10.1080/13816810.2025.2492041

Fatemeh Azimi, Masood Naseripour, Golnaz Khakpoor

{"title":"Genotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease.","authors":"Fatemeh Azimi, Masood Naseripour, Golnaz Khakpoor","doi":"10.1080/13816810.2025.2492041","DOIUrl":"https://doi.org/10.1080/13816810.2025.2492041","url":null,"abstract":"Analyzing Von Hippel-Lindau (VHL) variants and their correlation with phenotypes provides valuable insights into the genetic underpinnings of the disease. Among the most common mutations observed in these patients were missense (MS) mutations, followed by large deletions, and protein-truncating mutations (PTM). Notably, mutation sites in exon 3 (α domain) were more prevalent compared to other sites (65% vs. 35%). Splice site mutations were identified as high-risk mutations, while mutation c.467A>G was categorized as low-risk. After grouping the mutations into MS and Non-Missense (NMS) categories and analyzing mutation locations, statistical analysis revealed that RH patients with MS mutations had a 0.2 times lower likelihood of developing central nervous system hemangioblastoma (CHB) compared to those with NMS mutations. Additionally, the probability of MS mutations occurring in the superior, infratemporal, and temporal regions was 0.5 times lower than NMS mutations. For studying VHL mutations in the Iranian population, it is recommended to prioritize the examination of exon 3, followed by exon 1, and then exon 2.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-10"},"PeriodicalIF":1.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144286064","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

Longitudinal study in autosomal recessive PROM1 inherited retinal disease. 常染色体隐性PROM1遗传性视网膜疾病的纵向研究。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-10 DOI: 10.1080/13816810.2025.2510306

William B Yates, John R Grigg, Benjamin M Nash, Alan Ma, Sulekha Rajagopalan, Bernadette Hanna, Robyn V Jamieson

{"title":"Longitudinal study in autosomal recessive PROM1 inherited retinal disease.","authors":"William B Yates, John R Grigg, Benjamin M Nash, Alan Ma, Sulekha Rajagopalan, Bernadette Hanna, Robyn V Jamieson","doi":"10.1080/13816810.2025.2510306","DOIUrl":"https://doi.org/10.1080/13816810.2025.2510306","url":null,"abstract":"Introduction: PROM1 inherited retinal diseases (IRDs) result in significant phenotypic heterogeneity ranging from macular dystrophy to severe rod-cone dystrophy. This study examined a cohort of patients with autosomal recessive (AR) PROM1-associated IRD to determine important potential biomarkers of disease progression on multimodal imaging.Methods: Ophthalmic phenotyping included clinical examination, OCT, fundus autofluorescence and electrophysiology.Results: The cohort included six patients with bi-allelic variants, including two novel variants, and a median of 11.8 years of follow-up. Best-corrected visual acuity (BCVA) was maintained until a steep decline around 15 years of age. This was preceded by contraction of the subfoveal ellipsoid zone length (EZL), measured on OCT. Review of the literature demonstrated that cone or cone-rod dystrophy was the most frequently identified clinical phenotype. Loss of function variants including nonsense, frameshift and splice variants were particularly common.Discussion: This study provides detailed insights into the natural history of AR PROM1 IRD and current understanding in the published literature. Contraction of the subfoveal EZL appears to be a potential biomarker for disease progression and occurs earlier than reduction in BCVA.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-14"},"PeriodicalIF":1.2,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266874","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

Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature. IFT140基因的致病变异和两名儿科患者的有趣临床表现。病例报告及文献复习。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-10 DOI: 10.1080/13816810.2025.2462987

Maša Koce, Ana Fakin, Špela Markelj, Maruša Debeljak, Jernej Kovač, Ajda Lisec, Sara Bertok, Anamarija Meglič

{"title":"Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.","authors":"Maša Koce, Ana Fakin, Špela Markelj, Maruša Debeljak, Jernej Kovač, Ajda Lisec, Sara Bertok, Anamarija Meglič","doi":"10.1080/13816810.2025.2462987","DOIUrl":"10.1080/13816810.2025.2462987","url":null,"abstract":"Background: The IFT140 gene is one of many genes involved in the synthesis of proteins needed for cilium function. Ciliopathies are a group of disorders associated with the dysfunction of ciliary structures and express as an individual organ system disease as well as multisystem disorders. Dysfunctional cilia typically manifest as pleiotropic clinical features, reflecting their widespread distribution and varied functionality.Cases presentation: We present two cases: Case 1, a male with two pathological variations in IFT140 gene, a compound heterozygote, with kidney failure, retinal dystrophy, cardiomyopathy, and situs inversus and Case 2, a female with an IFT140 pathogenic homozygous variant, presented with nephrotic range proteinuria, retinitis pigmentosa, and pseudotumor cerebri.Conclusions: As cilia dysfunction is known to cause pleiotropic clinical features due to the presence of cilia in different organs in the body, the clinical picture of the IFT140 mutation is also very heterogeneous. Our cases reveal unprecedented manifestations - LVNC, situs inversus, and pseudotumor cerebri - not previously documented in IFT140 mutation. These findings underscore the importance of genetic screening in ciliopathies.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"285-292"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383044","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