Ophthalmic Genetics最新文献

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

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

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

Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract. SIX6中新的复合杂合变异体导致PAX2样发育不良视盘伴黄斑异常，但不伴有小眼或白内障。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-13 DOI: 10.1080/13816810.2025.2473969

Karthikeyan Arcot Sadagopan

{"title":"Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract.","authors":"Karthikeyan Arcot Sadagopan","doi":"10.1080/13816810.2025.2473969","DOIUrl":"10.1080/13816810.2025.2473969","url":null,"abstract":"Background: Congenital optic disc dysplasia with coexistent macular abnormalities is seen in Morning-glory disc anomaly, optic disc pit, PAX6-related disc coloboma, and in the PAX2-related Papillo-renal syndrome. We report novel compound heterozygous variants in SIX6 causing optic disc dysplasia and macular abnormality without coexisting cataract or microphthalmia for the first time in Chinese ethnicity and also describe the macular OCT findings.Materials and methods: A 4 year-8 months-old female child presented with poor vision, photophobia, and nystagmus noticed 4 months after her birth was diagnosed elsewhere to have isolated cone dystrophy. She was evaluated subsequently by an ocular geneticist. She underwent a complete ophthalmic evaluation including orthoptic evaluation, cycloplegic refraction, and a dilated fundus evaluation. She had fundus photography, macular OCT, and ERG. She had systemic evaluations, relevant systemic investigations, and molecular genetic testing.Results: Whole Exome Sequencing (WES) revealed compound heterozygous variants both in the SIX6 and in the TULP1 gene. No pathogenic variants were identified in the PAX2, PAX6 or in any of the other developmental genes or in the genes currently known to cause cone dystrophy or cone-rod dystrophy. Parents were heterozygous for variants in both SIX6 and TULP1.Conclusions: Homozygous or compound heterozygous pathogenic variants in SIX6 can cause a dysplastic optic disc and coexistent macular abnormalities. This dysplastic disc may be clinically indistinguishable from that seen in the PAX2 related Papillo-renal syndrome. Careful optic disc evaluation of subtle disc dysplasia is critical in differentiating this extremely rare entity from other relatively common causes of isolated cone dystrophies or cone-rod dystrophies.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"301-304"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625589","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

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study. 新加坡和马来西亚马来人和印度人的遗传性视网膜变性：一项前瞻性多中心研究。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-18 DOI: 10.1080/13816810.2025.2473961

Sandy Sao Su, Choi Mun Chan, Yasmin Bylstra, Tien-En Tan, Sylvia Kam, Rachael W C Tang, Kanika Jain, Ranjana S Mathur, Penny P W Lott, Saadia Z Farooqui, Saumya S Jamuar, Weng Khong Lim, Beau J Fenner

{"title":"Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.","authors":"Sandy Sao Su, Choi Mun Chan, Yasmin Bylstra, Tien-En Tan, Sylvia Kam, Rachael W C Tang, Kanika Jain, Ranjana S Mathur, Penny P W Lott, Saadia Z Farooqui, Saumya S Jamuar, Weng Khong Lim, Beau J Fenner","doi":"10.1080/13816810.2025.2473961","DOIUrl":"10.1080/13816810.2025.2473961","url":null,"abstract":"Purpose: To analyze the phenotypic and genotypic characteristics of inherited retinal degeneration (IRD) patients of Malay and Indian ethnicity from Singapore and Malaysia.Methods: Ethnic Malay and Indian IRD patients were consecutively enrolled from retina clinics in Singapore and Malaysia. Phenotypic and genetic data were reviewed.Results: A total of 100 unrelated individuals (Malay: n = 46, Indian: n = 54) were enrolled. Sixteen distinct IRD phenotypes were identified, with nonsyndromic retinitis pigmentosa (RP) comprising 46% of all cases. Stargardt disease and cone-rod dystrophy accounted for 20% and 11% of cases, respectively. Exome sequencing yielded genotypes in 64.3% of Malay and 68.9% of Indian cases. Variants in ABCA4 were the most common cause of IRD overall. Recurrent variants were identified in ABCA4, GUCY2D, PRPH2, and TULP1 for Malays, and in ABCA4 and MFSD8 (CLN7) for Indians. Homozygosity was more frequent among Indians than Malays (58.1% vs. 19.2%; p = 0.003).Conclusions: This study demonstrated diverse phenotypic and genotypic outcomes in Malay and Indian populations of Singapore and Malaysia, with distinct differences between them. Homozygosity was common among ethnic Indian IRD cases, explaining phenotypic diversity. These findings inform the identification of regionally relevant IRDs for developing targeted therapies in Malay and Indian patients from Southeast Asia.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"225-236"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657984","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

Is there a predisposition to uveitis in Turner syndrome? 特纳综合征患者是否易患葡萄膜炎？

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-04 DOI: 10.1080/13816810.2025.2473970

Kirk A J Stephenson, Shanil R Dhanji, Kaivon Pakzad-Vaezi

{"title":"Is there a predisposition to uveitis in Turner syndrome?","authors":"Kirk A J Stephenson, Shanil R Dhanji, Kaivon Pakzad-Vaezi","doi":"10.1080/13816810.2025.2473970","DOIUrl":"10.1080/13816810.2025.2473970","url":null,"abstract":"Introduction: Autoimmunity is prevalent in Turner syndrome (TS) though uveitis is rarely reported. A definite link between TS and uveitis is not yet established.Methods: We report two cases of uveitis with a history of TS and review the literature regarding TS, uveitis and autoimmunity.Results: TS-associated uveitis is acute (100%), non-hypertensive (100%) anterior uveitis (87.5%) that usually responds to topical therapy without unexpected long-term visual sequelae. Systemic treatment is uncommonly required as relapses are infrequent.Conclusion: Reported cases of uveitis in TS were acute/symptomatic, normotensive and both unilateral and bilateral cases have been described. Systemic causes including infectious (e.g. syphilis, tuberculosis), noninfectious (e.g. sarcoidosis, HLA-B27) and specific syndromes (e.g. tubulointerstitial nephritis with uveitis, juvenile idiopathic arthritis) should be sought. Systemic immunosuppression was not needed in most cases as a good response to topical therapy was typical. There are baseline risks in TS (e.g. further growth limitation in children, baseline increased risk of solid tumors, diabetes mellitus), which should be considered before commencing systemic corticosteroids or immunosuppressants.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"297-300"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557412","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