Ophthalmic Genetics最新文献_第8页

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

Genetic screening of the RNA-binding protein RBM24 and its binding sites in the SOX2 3' untranslated region in a cohort of 50 patients with micro-anophthalmia. 50例微眼肿患者中rna结合蛋白RBM24及其SOX2 3'非翻译区结合位点的遗传筛选

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-17 DOI: 10.1080/13816810.2025.2467334

Julien Noero, Mathys Weber, Nicolas Chassaing, Véronique Gaston, Julie Plaisancié, Bertrand Chesneau

{"title":"Genetic screening of the RNA-binding protein RBM24 and its binding sites in the SOX2 3' untranslated region in a cohort of 50 patients with micro-anophthalmia.","authors":"Julien Noero, Mathys Weber, Nicolas Chassaing, Véronique Gaston, Julie Plaisancié, Bertrand Chesneau","doi":"10.1080/13816810.2025.2467334","DOIUrl":"10.1080/13816810.2025.2467334","url":null,"abstract":"Microphthalmia and anophthalmia (M/A) are rare congenital eye anomalies with a birth prevalence of up to 1 in 10,000 births. The etiology of M/A can involve environmental and/or genetic factors, with a genetic origin identified in approximately 50% of cases through analysis of key genes. The transcription factor SOX2 is the most commonly implicated gene, accounting for around 15% of M/A cases. Recent studies have shown that the RNA-binding protein Rbm24 post-transcriptionally regulates Sox2 expression in mice and zebrafish, with Rbm24 null models exhibiting eye phenotypes in both species. Rbm24 can bind to Sox2 mRNA via three AU-Rich elements (AREs) located in its 3' untranslated region (UTR). In this study, we aimed to determine whether pathogenic variants within RBM24 or the SOX2 3'UTR AREs were present in a cohort of 50 individuals with M/A with no identified genetic cause for their condition. Despite the ocular defects observed in animal models, we did not detect any variant of interest in these candidate regions in our cohort. Although we cannot exclude the involvement of pathogenic variations in RBM24 or the SOX2 3'UTR AREs in ocular developmental defects, our study shows that they are unlikely to represent a frequent cause of M/A.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"256-260"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433550","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 ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history. 遗传性高铁蛋白血症-白内障综合征1例无家族史的新铁蛋白l链基因变异。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-23 DOI: 10.1080/13816810.2025.2470200

Murat Erdogan

{"title":"Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.","authors":"Murat Erdogan","doi":"10.1080/13816810.2025.2470200","DOIUrl":"10.1080/13816810.2025.2470200","url":null,"abstract":"Introduction: Hereditary Hyperferritinemia-Cataract Syndrome (HHCS, MIM #600886) is a rare autosomal dominant genetic disorder characterized by elevated serum ferritin levels and early-onset cataracts. This condition is caused by mutations in the iron-responsive element (IRE) within the 5' untranslated region (UTR) of the ferritin light chain (FTL, *134790) gene. In this study, we report a case involving elevated ferritin levels and a history of cataracts associated with a novel variant in the FTL gene, in the absence of any familial history of the disease.Case presentation: In this study, we performed sequence analysis of the ferritin L-chain (FTL) gene in a 61-year-old female patient and her family. The patient history of bilateral cataract from a young age and was later found to have elevated ferritin levels. Mutation analysis identified an unreported deletion insertion (delins) variant in the FTL gene.Conclusion: Genetic factors, while rare, are a significant cause of hyperferritinemia. In cases where hyperferritinemia is accompanied by early-onset cataracts, genetic etiologies should be considered. Multidisciplinary evaluation of patients can help avoid unnecessary treatments and improve quality of life through timely interventions.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"293-296"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483498","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

Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes. 维吾尔族中国 2 型糖尿病患者维生素 D 受体多态性与糖尿病视网膜病变之间的关系。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-25 DOI: 10.1080/13816810.2025.2470206

Li Li, Xueyi Chen, Xianglong Yi

{"title":"Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes.","authors":"Li Li, Xueyi Chen, Xianglong Yi","doi":"10.1080/13816810.2025.2470206","DOIUrl":"10.1080/13816810.2025.2470206","url":null,"abstract":"Purpose: This study was to investigate the potential association between vitamin D receptor(VDR) gene polymorphisms and the risk of diabetic retinopathy(DR) in the Uygur population in China, focusing on four specific VDR gene single nucleotide polymorphisms(SNPs) as candidate SNPs.Methods: The study genotyped a total of 151 DR patients and 130 healthy controls from the Uygur population using the single-base terminal extension (SNaPshot) method for four VDR gene SNPs: rs1544410, rs7975232, rs2228570, and rs731236. Hardy-Weinberg equilibrium was assessed using the χ2 test. Genotype frequencies were determined by directly counting the genotypes and correlating them with population data. The χ2 test was utilized to compare allele and genotype frequencies between patients and controls.Results: Compared to the healthy control group, the study observed a significantly higher frequency of the \"TT\" genotype at rs1544410 in the DR group. Additionally, within the non-proliferative diabetic retinopathy (NPDR) group, a significantly higher frequency of the \"AA\" genotype at rs7975232 was noted. No significant differences were found in the comparison of all haplotypes between patients and controls.Conclusions: The study concluded that the rs1544410 polymorphism is associated with DR, and the rs7975232 polymorphism is associated with susceptibility to NPDR in the Uygur population in China.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"261-266"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502616","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 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":1.0,"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

Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trials. 早发性Stargardt病的视网膜厚度和视力遵循非线性进展曲线：临床试验的意义

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-25 DOI: 10.1080/13816810.2025.2470212

S Scott Whitmore, Douglas B Critser, Edwin M Stone, Ian C Han

{"title":"Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trials.","authors":"S Scott Whitmore, Douglas B Critser, Edwin M Stone, Ian C Han","doi":"10.1080/13816810.2025.2470212","DOIUrl":"10.1080/13816810.2025.2470212","url":null,"abstract":"Introduction: We retrospectively evaluated early-onset, autosomal recessive Stargardt disease in younger siblings from affected sibships using longitudinal analysis of visual acuity and multimodal imaging.Methods: Between 2002 and 2022, two sibships (n = 4, n = 2) with molecularly-confirmed Stargardt disease had younger affected siblings with clinical data obtained prior to the onset of vision loss. Measurement of best-corrected visual acuity and acquisition of color fundus photographs, autofluorescence, SLO, and OCT imaging were performed as part of routine clinical care.Results: Both sibships presented with early-onset vision loss between 5-9 years old. Fundus autofluorescence changes and a thickened external limiting membrane on OCT were the first biomarkers observed in the youngest siblings. Decline in visual acuity and total thickness in the fovea followed a distinct, three-phase course (initial, acute, slow/stable). The timing of the second (acute) phase of acuity loss differed by up to 5 years between siblings within a sibship. Loss of total retinal thickness in the fovea preceded the greatest drop in visual acuity.Discussion: Clinical trials must account for interrelationship between structure and function and the heterogeneity among patients sharing the same genotype, which suggests the action of unidentified modifiers.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"249-255"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502621","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 posterior subcapsular cataract and lenticonus in a girl with Bloom's syndrome - report of a rare case. 女孩单侧后囊下白内障及晶状体合并布卢姆氏综合征一例罕见病例报告。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-26 DOI: 10.1080/13816810.2025.2470945

Sandra Chandramouli, Minnulekshmi Reghukumar, Kalpana Narendran

{"title":"Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom's syndrome - report of a rare case.","authors":"Sandra Chandramouli, Minnulekshmi Reghukumar, Kalpana Narendran","doi":"10.1080/13816810.2025.2470945","DOIUrl":"10.1080/13816810.2025.2470945","url":null,"abstract":"Background: Bloom's syndrome (BS) a rare, autosomal recessive disorder is a genodermatosis characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early cancer. Loss-of-function mutations of BLM gene, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome 10 instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic for the syndrome.Methods: A 9-year-old girl previously diagnosed with Bloom's Syndrome, presented to us with defective vision and inward deviation of her right eye. In addition to dysmorphism associated with Bloom's syndrome on general examination, Ophthalmic examination revealed posterior subcapsular cataract and posterior lenticonus.Conclusion: This report thus has filled in a new and previously unreported clinical manifestation of Blooms' Syndrome, though it could be a chance association.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"318-320"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516321","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

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa. Waardenburg综合征1型伴色素性视网膜炎患者PAX3和CFAP410同时发生新突变

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-05 DOI: 10.1080/13816810.2025.2473972

Caroline Atef Tawfik, Mona Lotfi Essawi, Mohamed Nowara, Reem Mohsen, Nagham Maher Elbagoury

{"title":"Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.","authors":"Caroline Atef Tawfik, Mona Lotfi Essawi, Mohamed Nowara, Reem Mohsen, Nagham Maher Elbagoury","doi":"10.1080/13816810.2025.2473972","DOIUrl":"10.1080/13816810.2025.2473972","url":null,"abstract":"Background: Waardenburg syndrome (WS) is an auditory-pigmentary syndrome characterized by hair pigmentary abnormalities, pigmentary abnormalities of the iris, and congenital hearing loss. Type 1 associated with dystopia canthorum is caused by mutations in PAX3 gene which codes for DNA-binding transcription factor involved in neural crest border induction at the neural plate.Methods: A 41-year-old male patient of consanguineous Egyptian parents presenting with progressive nyctalopia and field constriction underwent complete ophthalmological examination. Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of the macula, full field electroretinogram (ERG), visual field perimetry and B-scans were obtained. Whole-exome sequencing (WES) was performed from a peripheral blood sample followed by bioinformatics analysis.Results: A novel mutation in PAX3 gene c.688C>A was identified by WES consistent with a diagnosis of Waardenburg syndrome (WS) type 1. Further bioinformatic analysis of WES raw data identified another novel mutation in CFAP410 c.293C>T confirming the associated RP diagnosis.Conclusion: To the best of our knowledge, this is the first report of RP in a WS patient. We are reporting novel mutations in PAX3 and CFAP410 genes and expanding number of cases of non-syndromic retinal degeneration in CFAP410- associated retinopathy.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"305-312"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567829","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