Ophthalmic Genetics最新文献_第9页

Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection. 进一步的证据表明，一种特定的纯合子CLDN19变异导致非综合征性黄斑病变，并可能被误认为先前的眼部弓形虫感染。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2025-01-02 DOI: 10.1080/13816810.2024.2438647

Arif O Khan

{"title":"Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection.","authors":"Arif O Khan","doi":"10.1080/13816810.2024.2438647","DOIUrl":"10.1080/13816810.2024.2438647","url":null,"abstract":"Introduction: Round atrophic macular scars with a hyperpigmented rim in an otherwise healthy child are characteristic for prior ocular toxoplasmosis infection, the most common etiology of self-resolved retinitis in immunocompetent patients. However, a specific homozygous gene mutation (NM_148960: CLDN19:c.263T>A; p.Val88Glu) can result in a similar phenotype.Methods: Retrospective case series (2018-2023) of children homozygous for the gene mutation CLDN19:c.263T>A; p.Val88Glu. Five children (3 families) were identified.Results: All 5 identified affected children had been referred for reduced vision and had bilateral central macular scars. Three children (2 families) were originally diagnosed with presumed prior ocular toxoplasmosis infection. All 5 children have stable ophthalmic finding over 5-6 years of follow-up. Although other CLDN19 mutations are associated with early-onset pediatric renal disease, none from this cohort with this specific CLDN19 variant has evidence for renal disease to date.Conclusions: CLDN19-related maculopathy can resemble and be mistaken as prior ocular toxoplasmosis infection. Unlike other CLDN19 mutations, the homozygous variant in this cohort has not been associated with renal disease to date. Genetic maculopathy should be considered in children with macular scars presumed to be related to prior ocular toxoplasmosis infection, particularly when the scarring is bilateral or familial.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"89-91"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921331","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 the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study. rs1800624和rs80096349 SNP与糖尿病视网膜病变的关系：一项试验研究。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-11-13 DOI: 10.1080/13816810.2024.2428783

Haider Ali Alnaji, Aizhar H Hasan, Rabab Omran, Mohammed Qasim Al Nuwaini

{"title":"Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study.","authors":"Haider Ali Alnaji, Aizhar H Hasan, Rabab Omran, Mohammed Qasim Al Nuwaini","doi":"10.1080/13816810.2024.2428783","DOIUrl":"10.1080/13816810.2024.2428783","url":null,"abstract":"Background: One of the conditions that might harm your eyesight is diabetic retinopathy (DR), DR may set in slowly but surely for those with long-term diabetes and poor glucose control. ‎.Objective: To establish a connection between the various genotypes of the rs1800624 SNP and the rs80096349 SNP located in the AGER gene and DR patients. ‎.Methods: The current case-control research examined one hundred thirty-four individuals diagnosed with type 2 diabetes and thirty-six healthy individuals who did not have DM. These samples were obtained from Amir Al-Muminin, a private hospital in Najaf, Iraq. The tetra primers ARMS-PCR method was utilized to determine the genotype of rs1800624 SNP of the AGER gene.Results: A significant association was found between genotypes (AA, AG, and GG) and DR subgroups (NPDR & PDR) in patients (p = 0.001). The AG genotype of rs1800624 SNP is associated with a lowering the risk of developing NPDR (OR = 0.30; 95% CI = 0.12-0.74; p = 0.009 between controls and NPDR, OR = 0.36; 95% CI = 0.14-0.90; p = 0.029 between NDR and NPDR). HRM analysis verified the presence of only two genotypes in the samples: wild type (GG) and a heterozygous mutant (GA). However, a significant association between genotypes was observed when comparing DR status with controls and NDR (p = 0.031).Conclusion: The rs1800624 SNP of the AGER gene is associated with the risk of NPDR and PDR in T2DM, and the polymorphism of the rs80096349 may be associated with retinopathy in the Iraqi population.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"40-46"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625209","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 cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use. 一名患有腺苷脱氨酶 2 (DADA2)缺乏症、高铁蛋白血症和长期服用类固醇的三岁儿童双侧白内障。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-11-12 DOI: 10.1080/13816810.2024.2426568

Kathryn Abe-Ridgway, Michael A Puente

{"title":"Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.","authors":"Kathryn Abe-Ridgway, Michael A Puente","doi":"10.1080/13816810.2024.2426568","DOIUrl":"10.1080/13816810.2024.2426568","url":null,"abstract":"Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder associated with systemic vasculitis and bone marrow failure. Reported ophthalmic findings in DADA2 include optic neuritis, retinal artery occlusion, uveitis, and optic atrophy. We report the case of a child found to have bilateral cataracts.Case report: A three-year-old recent immigrant from Mexico with a diagnosis of DADA2 and transfusion-dependent anemia was referred to ophthalmology to screen for deferasirox-associated retinopathy in the setting of hemochromatosis. He was incidentally found to have bilateral posterior subcapsular cataracts with no other ophthalmic abnormalities. The child's lab findings were significant for chronic hyperferritinemia, and his history was significant for over a year of oral prednisone use in Mexico.Conclusions: This is the first reported case of cataracts in a child with DADA2. While DADA2 is an autoinflammatory disorder, this child's lack of uveitis suggests a non-inflammatory etiology. Hyperferritinemia is a known cause of cataracts and is common in DADA2, but the child's history of oral steroid use in Mexico could also explain his cataracts. As pediatric cataracts have not otherwise been reported in DADA2, ophthalmologists should be aware of this possibility, especially in children with hyperferritinemia or a history of steroid use.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"74-78"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625211","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 homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family. 在一个巴基斯坦近亲家庭中，POC1B 的一个新型同卵错义变体导致了锥体营养不良症。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-11-20 DOI: 10.1080/13816810.2024.2430700

Asad Munir, Inam Ullah Khan, Abdur Rashid, Ijaz Anwar, Sabawoon Shah, Sergey Oreshkov, Mukhtar Ullah, Haider Ali Khan, Ubaid Ullah, Ashfaq Ahmad, Muhammad Ansar, Atta Ur Rehman

{"title":"A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family.","authors":"Asad Munir, Inam Ullah Khan, Abdur Rashid, Ijaz Anwar, Sabawoon Shah, Sergey Oreshkov, Mukhtar Ullah, Haider Ali Khan, Ubaid Ullah, Ashfaq Ahmad, Muhammad Ansar, Atta Ur Rehman","doi":"10.1080/13816810.2024.2430700","DOIUrl":"10.1080/13816810.2024.2430700","url":null,"abstract":"Background: Cone dystrophy is a heterogeneous hereditary retinal disorder with disease symptoms appearing in the late first or early second decades of life.Methods: A consanguineous Pakistani family with three affected individuals underwent detailed clinical and genetic investigation.Results: The proband, a 63-years old male, showed severely reduced day vision, a visual acuity of counting fingers (CF), color vision deficiency, high myopia and photophobia. Fundus images showed bilateral peripapillary atrophy, bilateral dull foveal reflex, tilted disc, tessellated fundus, and hyperfluorescence at the peripheral superior temporal arcade and leak at an early stage. OCT macula and angiography findings suggested traction near the disc in the right eye and sub-retinal fluid at the fovea in the left eye. Retinal layers were normal toward the periphery but disorganized near the disc. Full visual field tests showed bilateral central scotoma, while single visual field tests indicated bilateral generalized depression of the visual field. The proband showed normal bilateral intraocular pressure, normal choroidal vessels, and unremarkable anterior segment. Exome sequencing identified a novel homozygous missense variant (POC1B:NM_172240.3:c.1391T>C;p.L464P) in the proband. Existing evidence supported pathogenicity of the identified variant in the family.Conclusion: In conclusion, we document a first-ever Pakistani family with POC1B-related cone dystrophy.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"47-55"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682400","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

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature. 伴有新型 WDR73 变异的视网膜受累的加洛韦-莫瓦特综合征：病例报告和文献综述。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-11-21 DOI: 10.1080/13816810.2024.2426575

Jessica Eskander, Ariana Allen, Xiao Yi Zhou, Mays El-Dairi, Ramiro S Maldonado

{"title":"Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.","authors":"Jessica Eskander, Ariana Allen, Xiao Yi Zhou, Mays El-Dairi, Ramiro S Maldonado","doi":"10.1080/13816810.2024.2426575","DOIUrl":"10.1080/13816810.2024.2426575","url":null,"abstract":"Introduction: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder classically characterized by central nervous system and renal abnormalities. Optic atrophy has been reported as a common ophthalmic feature, and other characteristics, including nystagmus, strabismus, oculomotor apraxia, and retinopathy have been reported; however, data on retinal involvement and dysfunction is limited. In this case report, we aim to describe retinal findings in a female adolescent diagnosed with GAMOS due to a homozygous variant in the WDR73 gene.Methods: A comprehensive ophthalmologic examination, including dilated fundus examination, fundus photography, electroretinogram (ERG), and optical coherence tomography (OCT), was performed. Systemic findings were obtained from medical records.Results: The patient's visual testing was significant for oculomotor apraxia, large angle esotropia, and cross fixation. On fundus examination, bilateral optic nerve pallor and retinal vessel attenuation were noted. OCT revealed bilateral retinal thinning. ERG demonstrated non-recordable rod and cone responses.Discussion: This case report describes multimodal imaging findings in a patient diagnosed with GAMOS due to biallelic homozygous variants in the WDR73 gene with comparison of retinal findings and ERG results to previously reported cases. Furthermore, we present OCT and fundus images for the first time in the literature.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"79-82"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687994","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

An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome. 患有鲁宾斯坦-泰比综合征的新生儿青光眼的不寻常表现。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-10-29 DOI: 10.1080/13816810.2024.2422582

Brajesh Lahri, Renu Singh, Shikha Gupta, Arnav Panigrahi, Neerja Gupta, Shama Perveen, Arundhati Sharma, Viney Gupta

引用次数: 0

Clinical and genetic characteristics of simple central serous chorioretinopathy according to age. 不同年龄段单纯性中央浆液性脉络膜视网膜病变的临床和遗传特征。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-11-10 DOI: 10.1080/13816810.2024.2426559

Taiyo Shijo, Ayumi Fukui, Yoichi Sakurada, Nobuhiro Terao, Seigo Yoneyama, Natsuki Kusada, Atsushi Sugiyama, Mio Matsubara, Yoshiko Fukuda, Wataru Kikushima, Yumi Kotoda, Chie Sotozono, Kenji Kashiwagi

{"title":"Clinical and genetic characteristics of simple central serous chorioretinopathy according to age.","authors":"Taiyo Shijo, Ayumi Fukui, Yoichi Sakurada, Nobuhiro Terao, Seigo Yoneyama, Natsuki Kusada, Atsushi Sugiyama, Mio Matsubara, Yoshiko Fukuda, Wataru Kikushima, Yumi Kotoda, Chie Sotozono, Kenji Kashiwagi","doi":"10.1080/13816810.2024.2426559","DOIUrl":"10.1080/13816810.2024.2426559","url":null,"abstract":"Purpose: To investigate whether genetic and clinical characteristics differ depending on generations using 326 patients (male/female, 259/67; mean age, 55.4 ± 12.5 years) with simple CSC.Methods: All patients were diagnosed with simple CSC, defined as a retinal pigment epithelium alteration area equal to or smaller than 2-disc areas based on multimodal imaging at the initial presentation. We cross-sectionally evaluated clinical characteristics at the initial visit and genotyped CFH rs800292 and rs1329428 for all patients using TaqMan technology.Results: As generations decreased, the proportion of males, subfoveal choroidal thickness, and prevalence of fibrin significantly increased (p < 0.001, p < 0.001, and p = 0.012, respectively), and the best-corrected visual acuity improved (p < 0.001); in contrast, the prevalence of pachydrusen significantly decreased (p < 0.001). The younger presentation was significantly associated with male and risk variants (T allele) of CFH rs1329428 (p = 9.1 × 10-7 and p = 0.042, respectively), and patients were estimated to present 2 years younger per one T allele of CFH rs1329428 (p = 0.042, β = -1.95, stepwise regression analysis).Conclusion: Clinical and genetic characteristics differed significantly among patients with simple CSC, depending on their generation.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"25-30"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625215","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

Identification of regulatory genes associated with POAG by integrating expression and sequencing data. 通过整合表达和测序数据，确定与 POAG 相关的调控基因。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-11-20 DOI: 10.1080/13816810.2024.2431103

Xizi Wang, Qiang Zhang, Dongdong Zhao, Xiaofen Li, Lili Yi, Siyuan Li, Xin Wang, Mingliang Gu, Jianlu Gao, Xiaodong Jia

{"title":"Identification of regulatory genes associated with POAG by integrating expression and sequencing data.","authors":"Xizi Wang, Qiang Zhang, Dongdong Zhao, Xiaofen Li, Lili Yi, Siyuan Li, Xin Wang, Mingliang Gu, Jianlu Gao, Xiaodong Jia","doi":"10.1080/13816810.2024.2431103","DOIUrl":"10.1080/13816810.2024.2431103","url":null,"abstract":"Background: Primary open-angle glaucoma (POAG) is a subtype of glaucoma that accounts for 60%~70% of all cases. Its pathogenic mechanism is intricate and its pathogenic process is concealed. Numerous significant biological processes associated with POAG continue to be elucidated.Methods: In this study, by exploring the expression data of POAG tissues and normal tissues, we mined the regulatory lncRNAs and mRNAs closely associated with the pathogenesis and progression of POAG by exploring a regulatory network of competing endogenous RNA (ceRNA), established by integrating gene expression data with the known lncRNA-miRNA and miRNA-mRNA-regulatory interactions. The key regulatory pathways and regulatory elements of POAG were identified by topological analysis. Simultaneously, the exome data of 28 cases with POAG and healthy controls were analyzed to identify high-frequency mutations and genes.Results: A total of 2712 differentially expressed genes were identified, including 1828 mRNAs and 884 lncRNAs. Network analysis suggested that lncRNAs such as HAGLR, HOTAIR and MIR29B2CHG, and mRNAs such as PPP6R3, BMPR2 and CFL2, may be involved in the onset and progression of POAG. In addition, 55 mutations with potential pathogenicity were identified.Conclusion: These genes and mutations provide novel potential genetic heterogeneity and genetic susceptibility of POAG, as well as fresh suggestions for elucidating the molecular mechanism underlying the pathogenesis of POAG.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"56-64"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682409","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 ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature. 一种与NEDDFSA相关的新型ZMIZ1变异和新的眼部特征：病例报告和文献回顾。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2025-02-01 Epub Date: 2024-12-10 DOI: 10.1080/13816810.2024.2438652

Eileen Javidi, Simon Javidi, Fares Antaki, Philippe M Campeau, Luis H Ospina

{"title":"A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.","authors":"Eileen Javidi, Simon Javidi, Fares Antaki, Philippe M Campeau, Luis H Ospina","doi":"10.1080/13816810.2024.2438652","DOIUrl":"10.1080/13816810.2024.2438652","url":null,"abstract":"Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to ZMIZ1 genetic variants. We present a novel ZMIZ1 variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.Methods: Genetic testing performed on a large panel revealed a likely pathogenic de novo variant in the ZMIZ1 gene (heterozygous, c.881C>T), consistent with a molecular diagnosis of an autosomal dominant ZMIZ1-related condition. This variant was predicted to result in the amino acid substitution p.Thr294Ile. We also conducted a targeted literature review for reported cases of ZMIZ1 variants and associated phenotypes by searching MEDLINE through PubMed and Google Scholar from inception to May 2024. References and abstracts were screened independently by two authors. Review of the literature permitted the analysis of 27 cases of ZMIZ1 variants in patients with syndromic phenotypes.Results: The most common ophthalmic finding was ptosis (35%). Refractive error was common (myopia in 20%, hyperopia in 12%). Other findings included strabismus (12%) and amblyopia (16%).Discussion: We describe a novel ZMIZ1 variant associated with NEDDFSA and previously undescribed ocular features. Our literature review summarizes the ophthalmic findings in this seldom encountered disorder, thus providing clear and concise data for clinicians and improving patient care.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"92-100"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807760","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

Highly asymmetric early presentation of FEVR requiring enucleation. 高度不对称的发热出血热早期表现，需要去核。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-12-08 DOI: 10.1080/13816810.2024.2427879

Kirill Zaslavsky, Ajoy Vincent, Birgit Betina Ertl-Wagner, Marie-Anne Brundler, Ashwin Mallipatna

{"title":"Highly asymmetric early presentation of FEVR requiring enucleation.","authors":"Kirill Zaslavsky, Ajoy Vincent, Birgit Betina Ertl-Wagner, Marie-Anne Brundler, Ashwin Mallipatna","doi":"10.1080/13816810.2024.2427879","DOIUrl":"https://doi.org/10.1080/13816810.2024.2427879","url":null,"abstract":"Introduction: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder characterized by abnormal retinal vascular development. While it typically presents in childhood, distinguishing it from retinoblastoma in young infants can be challenging, especially in cases with asymmetric and advanced manifestations.Methods: Case report.Results: A 2-month-old female with microcephaly and intrauterine growth restriction (IUGR) presented with a left eye intraocular mass involving the entire globe and a flat anterior chamber. MRI showed no calcifications or contrast enhancement typical of retinoblastoma. Intravenous fluorescein angiography showed incomplete vascularization in the contralateral eye with compensatory neovascularization. The left eye was enucleated, and histology demonstrated a dysplastic retina with a retrolental membrane and abnormal vascular proliferations, confirming a diagnosis of FEVR. Genetic testing identified a novel pathogenic CTNNB1 p.Gly635* variant, inherited from the mother in whom it was present at 10-20% mosaicism.Discussion: Variants in CTNNB1 cause of CTNNB1-neurodevelopmental disorder, characterized by microcephaly, IUGR, autism spectrum disorder, intellectual disability, and FEVR in 20-40% of cases. Affected children present at an early age and advanced stages of disease. This case highlights that FEVR can have a highly asymmetric and advanced presentation at an early age and must be distinguished from retinoblastoma in the differential diagnosis of leukocoria.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.2,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795079","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