Ophthalmic Genetics最新文献_第5页

Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report. 从纤毛病角度看视网膜星形细胞瘤与Jeune综合征的关系1例。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-12 DOI: 10.1080/13816810.2025.2544636

Deniz Alyan, Hayyam Kiratli, Irem Koc, Pelin Ozlem Simsek Kiper, Gizem Urel Demir

{"title":"Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.","authors":"Deniz Alyan, Hayyam Kiratli, Irem Koc, Pelin Ozlem Simsek Kiper, Gizem Urel Demir","doi":"10.1080/13816810.2025.2544636","DOIUrl":"https://doi.org/10.1080/13816810.2025.2544636","url":null,"abstract":"Background: Jeune syndrome is an autosomal recessive chondrodysplasia characterized by skeletal deformities and extra-skeletal organ involvement. Retinal astrocytic hamartomas (astrocytomas) are benign glial cell 10 15 Q1 tumors that are generally asymptomatic and diagnosed incidentally. The IFT74 gene is responsible for the formation of IFT proteins, which play a major role in ciliogenesis.Case Presentation: In this retrospective clinical laboratory observational study, an 18-year-old male with Jeune syndrome and night vision loss is presented. Fundus examination revealed bilateral optic discs with minimally blurred margins and bilateral retinal pigment epithelium changes in salt-pepper pattern in the peripheral retina. Additionally, a yellowish retinal astrocytoma was observed inferior to the optic disc in the left eye. Genetic analysis of the patient revealed a homozygous deletion in exon 2 of the IFT74 gene.Conclusions: Our observations on this patient and some relationships between hamartoma and ciliopathies other than eye may potentially suggest a possible association between Jeune syndrome and retinal astrocytoma in the context of IFT74-related ciliopathies.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835980","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

Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder. 马赛克磷酸核糖基焦磷酸合成酶1缺乏引起的双侧视网膜营养不良和单侧听力丧失：扩大了一种罕见神经代谢疾病的频谱。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-07 DOI: 10.1080/13816810.2025.2543157

Pankaj Prasun, Elizabeth Kellom, Kimberly Stepien

{"title":"Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.","authors":"Pankaj Prasun, Elizabeth Kellom, Kimberly Stepien","doi":"10.1080/13816810.2025.2543157","DOIUrl":"https://doi.org/10.1080/13816810.2025.2543157","url":null,"abstract":"Background: Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency is a rare neurometabolic disorder with wide spectrum of presentation. It can present in early childhood with global developmental delay, retinal dystrophy, and hearing loss, or can present as isolated neuropathy or hearing loss in adulthood. Here we describe a patient with vision impairment, fatigue, and unilateral hearing loss caused by a somatic mosaic pathogenic variant in PRPS1 gene which encodes PRPS1. Supplementation with S-adenosylmethionine (SAMe) and Nicotinamide Riboside (NR) resulted in improvement in symptoms.Method and results: This retrospective clinical-laboratory observational study has a reference patient who was found to have right-sided hearing loss and vision impairment in right eye in early childhood. Later on, he developed epilepsy. He had deterioration in cognitive function in adolescence. At the age of 26 years, he developed progressive vision impairment due to bilateral, asymmetric retinal degeneration. In addition, he had severe generalized fatigue. Molecular diagnostic workup showed a mosaic pathogenic variant c.383A > T, p. Asp128Val in PRPS1. Subsequently, SAMe at 800mg twice a day and NR at 800 mg daily doses were started leading to significant improvement in fatigue and stabilization of vision.Conclusion: PRPS1 deficiency is an inherited disease of nucleotide biosynthesis. The age of onset of symptoms as well as severity of symptoms are variable. Supplementations with nucleotide precursors may stabilize the clinical course.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144799758","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

Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population. TGFB1 -509C>T多态性在土耳其原发性开角型青光眼和闭角型青光眼中的评价

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-05 DOI: 10.1080/13816810.2025.2543156

Sevinc Sahin, Enise Avcı Durmusalioglu, Basak Durmus, Mine Esen Baris, Suzan Guven Yilmaz, Seyda Karadeniz Ugurlu, Tahir Atik

{"title":"Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population.","authors":"Sevinc Sahin, Enise Avcı Durmusalioglu, Basak Durmus, Mine Esen Baris, Suzan Guven Yilmaz, Seyda Karadeniz Ugurlu, Tahir Atik","doi":"10.1080/13816810.2025.2543156","DOIUrl":"https://doi.org/10.1080/13816810.2025.2543156","url":null,"abstract":"Aim: This study aimed to investigate the association of the TGFB1 -509C>T polymorphism with the development of Primary Open-Angle Glaucoma (POAG) and Primary Angle-Closure Glaucoma (PACG) in the Turkish population.Methods: This study included patients from the Ophthalmology Departments of İzmir Katip Çelebi University and Ege University, divided into three groups: POAG (n = 115), PACG (n = 53), and control (n = 96). Detailed eye examinations and peripheral blood sample collections for DNA isolation were performed. The TGFB1 -509C>T polymorphism was evaluated via PCR amplification and sequencing analysis on the Illumina Miniseq platform.Results: No significant differences were found among the groups regarding demographic characteristics. The POAG and PACG groups had significantly different intraocular pressure and cup/disc ratio compared to the control group. However, no significant association was found between the TGFB1 -509C>T polymorphism and the development of POAG or PACG in terms of allele frequency, genotype, and dominant/recessive model analysis.Conclusion: In this study involving a well-defined Turkish sample, the TGFB1 -509C>T polymorphism was not associated with the development of POAG or PACG. However, given the limited sample size, especially in the PACG subgroup, these findings should be interpreted with caution. Further large-scale studies in broader Turkish populations are warranted to validate these results.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789651","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

Corneal parameters in pediatric triple a syndrome patients with alacrima. 小儿三甲综合征伴泪斑的角膜参数分析。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-04 DOI: 10.1080/13816810.2025.2538560

Miray Faiz Turan, Ihsan Turan

{"title":"Corneal parameters in pediatric triple a syndrome patients with alacrima.","authors":"Miray Faiz Turan, Ihsan Turan","doi":"10.1080/13816810.2025.2538560","DOIUrl":"https://doi.org/10.1080/13816810.2025.2538560","url":null,"abstract":"Introduction: To evaluate the changes in central corneal thickness and curvature parameters in pediatric patients with Triple A syndrome and alacrima.Methods: This retrospective study included 52 eyes of 26 patients with Triple A syndrome. All patients had alacrima. Pentacam was used to analyze the keratometry in the flat (K1) and steep meridian (K2) and maximum keratometry (Kmax), mean keratometry (Kmean) readings, central corneal thickness at the vertex (CCT) and at the thinnest point (CCT-TP) were recorded. Patients were divided into three groups based on their age (Group 1: 3-6 years, group 2: 7-12 years, group 3: 13-18 years). Values were compared between pediatric patients with Triple A and normal controls.Results: The K1 values of all patients were significantly higher than those observed in healthy data (p < 0.001). 15 Group 1 had significantly lower K2 and higher CCT values (p = 0.008, p = 0.015). In group 2, K1 and Kmax were significantly higher, while CCT and CCT-TP were lower (p = 0.016, p < 0.001, p < 0.001, p < 0.001, respectively). In group 3, K1 and CCT and CCT-TP were significantly higher than the normal data (p = 0.019, p < 0.001, p < 0.001, respectively).Discussion: Since dry eye syndrome may cause corneal changes, in AAAS patients, corneal topographic variations may occur due to alacrima. Thus, these patients should be evaluated during follow-up visits.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775914","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

Andreas Gal the Mentor. 导师安德烈亚斯·盖尔。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2025-08-30 DOI: 10.1080/13816810.2025.2539461

Christian A Hübner

引用次数: 0

Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome. Bardet-Biedl综合征新的BBS1缺失和BBS9无义致病变异。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2024-12-01 DOI: 10.1080/13816810.2024.2434039

Janice Min Li, Erika Tavares, Jacque L Duncan, Ajoy Vincent, Elise Héon

{"title":"Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.","authors":"Janice Min Li, Erika Tavares, Jacque L Duncan, Ajoy Vincent, Elise Héon","doi":"10.1080/13816810.2024.2434039","DOIUrl":"10.1080/13816810.2024.2434039","url":null,"abstract":"Background: Bardet-Biedl syndrome (BBS) is a rare syndromic ciliopathy characterized with retinal degeneration and a broad range of systemic features. Twenty-six BBS-associated genes have been identified to date and clinical genetic testing resolves around 80% of the cases. Two BBS cases unsolved by clinical genetic testing were recruited to identify causative variants using next-generation sequencing.Methods: Genomic DNA of the probands from both families was extracted from peripheral blood. Whole genome or exome sequencing results were analyzed with comprehensive variant filtering on structural variants, single nucleotide variants (SNVs), insertions/deletions (indels).Results: Family 1: A novel rare deletion NM_024649.5(BBS1): c.830 + 554_1110 + 1052del; p.(Asp278Metfs*3) was identified in the female proband in trans with a known pathogenic missense variant p.(Met390Arg). This 3k base pair (bp) deletion was predicted to cause a loss in exons 10-11, resulting in a premature stop codon. Family 2: Variant filtering in the male proband identified two rare (gnomAD AF < 0.01%) nonsense SNVs in trans in BBS9, NM_198428.3: c.724 G>T; p.(Gly242*) and c.966 G>A; p.(Trp322*), one of them being a novel pathogenic variant.Conclusion: All the novel variants identified fell into the pathogenic variant classification following ACMG/AMP criteria. This report highlights the role of whole exome and genome sequencing in unsolved cases.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"406-412"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770977","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 CEP250 gene variants. CEP250基因变异的表型谱。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2024-11-28 DOI: 10.1080/13816810.2024.2434045

Cécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, Anne-Marie Guerrot, Isabelle Audo, Amélie Lecleire-Collet, Isabelle Amstutz-Montadert, Shai Gad, Gabrielle Lapeyre, Xavier Zanlonghi, Dominique Bonneau, Mélanie Fradin, Guylène Le Meur, Sandrine Marlin, Pierre Blanc, Anne-Françoise Roux, Isabelle Meunier, Vincent Michaud

{"title":"The phenotypic spectrum of CEP250 gene variants.","authors":"Cécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, Anne-Marie Guerrot, Isabelle Audo, Amélie Lecleire-Collet, Isabelle Amstutz-Montadert, Shai Gad, Gabrielle Lapeyre, Xavier Zanlonghi, Dominique Bonneau, Mélanie Fradin, Guylène Le Meur, Sandrine Marlin, Pierre Blanc, Anne-Françoise Roux, Isabelle Meunier, Vincent Michaud","doi":"10.1080/13816810.2024.2434045","DOIUrl":"10.1080/13816810.2024.2434045","url":null,"abstract":"Introduction: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in CEP250 cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported. In this study, we present detailed clinical and genetic description of 7 unrelated individuals with CEP250 related disease, along with a literature review to provide new insight on the severity and course of the disease.Methods: We retrospectively recruited 7 unrelated individuals who underwent genetic testing (targeted gene panel or whole genome sequencing) and were found to carry CEP250 pathogenic variants.Results: Most patients (5/7) exhibit both retinal dystrophy and SNHL. Two patients appear to present either isolated hearing loss or visual impairment, but further investigations are needed to confirm a possible non-syndromic presentation. All patients harbored isolated truncating variants.Discussion: CEP250 pathogenic variants are associated with post-lingual SNHL, and most often progressive photoreceptor dysfunction. The disease may begin with ocular features or hearing loss. We strongly recommend genetic analysis of classical and atypical Usher related-genes, in patients with isolated retinal dystrophy or SNHL. We also recommend ophthalmological evaluation and follow-up in patients with isolated SNHL, and conversely. The coexistence of loss- and gain-of-function effects may exist, complicating the development of gene therapy.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"354-361"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751393","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

Case report: ocular manifestations of NFIX-associated Malan syndrome. 病例报告：nfix相关Malan综合征的眼部表现。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2025-03-24 DOI: 10.1080/13816810.2025.2482609

Altuğ Ay, Florian H Guillot, Andrew R Carey

引用次数: 0

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy. 详细的结构异常与一种新的VCAN变异家族与versican玻璃体视网膜病变相关。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2025-03-26 DOI: 10.1080/13816810.2025.2483421

Anny Zhong, Alexander Sumaroka, Jonathan C Tsui, Erin C O'Neil, Artur V Cideciyan, Emily Datz, Emma C Bedoukian, Tomas S Aleman, Drew Scoles

{"title":"Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.","authors":"Anny Zhong, Alexander Sumaroka, Jonathan C Tsui, Erin C O'Neil, Artur V Cideciyan, Emily Datz, Emma C Bedoukian, Tomas S Aleman, Drew Scoles","doi":"10.1080/13816810.2025.2483421","DOIUrl":"10.1080/13816810.2025.2483421","url":null,"abstract":"Purpose: To understand the retina micropathology in a family with a novel variant in VCAN.Methods: Two sisters ages 16 (proband) and 18 years old and their 48-year-old father underwent comprehensive ophthalmic evaluations. Multimodal imaging was performed with spectral domain optical coherence tomography, ultrawide field short-wavelength fundus autofluorescence, and pseudocolor imaging.Results: Cataracts were present in the sisters along with a penetrant retinal phenotype in all three patients with vitreoretinal ring opacities and traction, peripheral pigmentary clumps, lattice-like features, retinoschisis, foveal ectopia, and nasal displacement of vessels. There were regions with inner retinal thinning with spared outer retina, likely a consequence of vitreoretinal traction, that contrasted with large areas of profound photoreceptor degeneration, but with a rather normal or thickened inner retina. A previously unreported heterozygous variant in intron 7 of VCAN (c.4004-2A>C) segregated with the phenotype in the proband and her father.Conclusions: Segregation of a versican-associated vitreoretinopathy supports the pathogenicity of the VCAN variant. The patterns of structural abnormalities support classical mechanisms of disease that involve local vitreoretinal traction, as well as possible alternative developmental and/or degenerative changes of the retina, RPE, and/or choroid that result from the primary molecular defect.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"370-379"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720843","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

DYRK1A syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype. DYRK1A综合征表现为家族性渗出性玻璃体视网膜病变（FEVR）样视网膜血管表型。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-08-01 Epub Date: 2025-05-22 DOI: 10.1080/13816810.2025.2503388

Siying Lin, Eleanor Hay, Dorothy A Thompson, Mariya Moosajee, Andrew R Webster, Omar A Mahroo, Robert H Henderson, Gavin Arno

{"title":"DYRK1A syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.","authors":"Siying Lin, Eleanor Hay, Dorothy A Thompson, Mariya Moosajee, Andrew R Webster, Omar A Mahroo, Robert H Henderson, Gavin Arno","doi":"10.1080/13816810.2025.2503388","DOIUrl":"10.1080/13816810.2025.2503388","url":null,"abstract":"Introduction: The DYRK1A gene plays a crucial role in central nervous system development, with haploinsufficiency leading to DYRK1A-related intellectual disability syndrome. Ocular manifestations are common in DYRK1A syndrome and include refractive error, strabismus and optic nerve hypoplasia. Retinal involvement, however is less frequently reported and remains uncharacterised.Methods: We conducted comprehensive ocular and systemic evaluations in two unrelated individuals with familial exudative vitreoretinopathy (FEVR)-like presentations and de novo DYRK1A variants. Genetic testing included whole genome sequencing with variant interpretation based on clinical guidelines.Results: Patient 1 had a previously reported recurrent pathogenic DYRK1A variant [c.1282C>T; p.(Arg428Ter)], whilst Patient 2 had a novel missense likely pathogenic variant [c.857T>C; p.(Leu286Pro)]. Both patients demonstrated systemic features consistent with DYRK1A syndrome.Discussion: These cases confirm vitreoretinal involvement as an associated finding in DYRK1A syndrome and highlight FEVR-like retinovascular abnormalities as a potential diagnostic clue for the condition in individuals with neurodevelopmental disorders.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"389-393"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12312742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0