Ophthalmic Genetics最新文献

{"title":"Association between VEGF polymorphisms and diabetic retinopathy in Thai patients with type 2 diabetes.","authors":"Thanyarat Promlek, Thanwa Wongsuk, Swangjit Suraamornkul, Yodpong Chantarasorn","doi":"10.1080/13816810.2025.2565636","DOIUrl":"https://doi.org/10.1080/13816810.2025.2565636","url":null,"abstract":"<p><strong>Background: </strong>Vascular endothelial growth factor (VEGF) is an angiogenic factor that contributes to the vascular permeability and neovascularization. This study aims to investigate whether the polymorphisms of the VEGF gene at the -2578C/A (rs699947) and -634 G/C (rs2010963) are risk factors for diabetic retinopathy (DR) in Thai patients with type 2 diabetes.</p><p><strong>Methods: </strong>We conducted a case-control study. Thai patients with type 2 diabetes were enrolled in the study and assigned to a diabetic with retinopathy (DR) or a diabetic without retinopathy (DWR) group based on the grading of retina images. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine polymorphisms of the VEGF gene at the -2578C/A and -634 G/C loci.</p><p><strong>Results: </strong>A total of 85 patients, including 37 with DR and 48 without DR, were enrolled in this study. We found that the genotype distributions and allele frequencies for the VEGF-2578C/A (rs699947) and VEGF-634 G/C (rs2010963) polymorphisms did not differ between the patients with DR and those without DR. Neither polymorphism was significantly associated with DR development.</p><p><strong>Conclusions: </strong>Our data suggest that VEGF-2578C/A (rs699947) and VEGF-634 G/C (rs2010963) polymorphisms may not be the risk factors for DR in Thai patients with type 2 diabetes mellitus.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145207278","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}

{"title":"Are vitamin D receptor gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms associated with diabetic retinopathy?","authors":"Emre Taşkın, Mehmet Coşkun","doi":"10.1080/13816810.2025.2495947","DOIUrl":"10.1080/13816810.2025.2495947","url":null,"abstract":"<p><strong>Introduction: </strong>Despite efforts to date, little is known about the genetic background of diabetic retinopathy (DR). Pathogenesis of DR involves processes like inflammation, proliferation and angiogenesis that vitamin D receptor (VDR) and endothelial nitric oxide (NOS3) genes are involved. Investigation of associations between VDR gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms and diabetic retinopathy was aimed.</p><p><strong>Methods: </strong>260 participants were divided into three groups: controls (<i>n</i> = 83), non-proliferative diabetic retinopathy (NPDR) (<i>n</i> = 101) and proliferative diabetic retinopathy (PDR) (<i>n</i> = 46). PCR-RFLP assay was used for genotyping. Genotype and allele frequencies as well as basic characteristics were compared both between groups and intragroup.</p><p><strong>Results: </strong>Mean FPG (<i>p</i> = 0.003), mean HbA1c (%) (<i>p</i> = 0.007) and mean HbA1c (<i>p</i> = 0.003) were significantly different between groups. Mean FPG of NPDR patients in rs731236 polymorphism was significantly different between genotypes under additive model (<i>p</i> = 0.018). Under dominant model, mean FPG of NPDR patients in rs731236 was significantly different between TT and TC+CC genotypes (<i>p</i> = 0.009). Under dominant model regarding rs2228570, mean BUN level of homozygous wild-type genotype was significantly higher than that of polymorphic allele carriers of NPDR group (<i>p</i> = 0.022). Regarding rs2228570 polymorphism, plasma creatine level of polymorphic genotypes was significantly lower than that of wild type genotype in control group (<i>p</i> = 0.040). Allele and genotype frequencies among groups were not significantly different (<i>p</i> > 0.05). Binary regression analysis didn't indicate any significant influence on having DR (<i>p</i> > 0.05, all).</p><p><strong>Discussion: </strong>In the studied population, this study is the first to investigate and demonstrate that VDR gene polymorphisms rs731236 and rs2228570 and NOS3 gene polymorphism rs3138808 are not associated with diabetic retinopathy.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"447-453"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030929","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}

{"title":"Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report.","authors":"Galina Dimitrova, Daniela Ristikj Stomnaroska, Fanka Gilevska, Antonela Ljubic, Dimitar Veljanovski, Dijana Plaseska-Karanfilska","doi":"10.1080/13816810.2025.2507084","DOIUrl":"10.1080/13816810.2025.2507084","url":null,"abstract":"<p><strong>Background: </strong>Hereditary spastic paraplegia 15 (HSP15) is a rare genetic disease manifesting with progressive muscle spasticity and paralysis of the lower limbs (paraplegia) caused by mutations in the ZFYVE26 gene. When spastic paraplegia is accompanied by retinal degeneration and cognitive impairment, it is known as Kjellin syndrome. We report on ocular manifestations in a case with HSP15 and Kjellin syndrome.</p><p><strong>Materials and methods: </strong>We follow a 26-year-old male patient with HSP15 for 6 years. His condition was confirmed by clinical exome sequencing. In addition to regular systemic follow-ups, we performed ophthalmic examinations that included best corrected visual acuity, color vision testing, stereo acuity, visual fields, fundus photography, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, and corneal topography.</p><p><strong>Results: </strong>Genetic testing in the patient revealed homozygosity for the pathogenic variant c.2114dupC; p. (Glu706Ter) in the ZFYVE26. Although the variant is present in population databases and ClinVar, this is the first report of this variant in HSP15 affected patient. During follow-up the patient's visual acuity declined. Ocular fundus findings comprised of slowly progressive retinal degeneration and a novel ocular phenotype in HSP15 - keratoconus. Corneal topography showed corneal thinning (thinnest location OD: 524 µm OS: 490 µm). Keratoconus was classified as RE: A1B2C0D1, LE: A3B4C1D3 according to Belin Keratoconus Staging System.</p><p><strong>Conclusion: </strong>We describe the clinical and ocular manifestations of a patient with HSP15 and Kjellin syndrome who was diagnosed with a pathogenic variant of ZFYVE26 gene. The patient developed keratoconus that to our knowledge is a novel ophthalmic phenotype in HSP15.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"503-507"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120544","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}

{"title":"Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the <i>RS1</i> gene.","authors":"Peter Kiraly, Sian Sperring, Felix F Reichel, M Dominik Fischer","doi":"10.1080/13816810.2025.2479522","DOIUrl":"10.1080/13816810.2025.2479522","url":null,"abstract":"<p><strong>Introduction: </strong>In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes.</p><p><strong>Methods: </strong>This is a retrospective case report. Both patients underwent best-corrected visual acuity (BCVA) testing, slit-lamp examination, wide-field fundus imaging, optical coherence tomography (OCT), and genetic testing on the same day.</p><p><strong>Results: </strong>Fraternal twins, aged 21, were found to be hemizygous for the c.267T>A p. (Tyr89*) mutation in the RS1 gene. The first patient presented with a spoke-wheel pattern in the macula, extensive intraretinal cystoid cavities (ICC), and peripheral retinoschisis inferiorly and temporally, accompanied by breaks in the inner retinal layers. The second patient exhibited only tiny ICCs in the macula with mild disruption of the ellipsoid zone at the fovea and no peripheral retinoschisis.</p><p><strong>Conclusion: </strong>Family members with the same pathogenic variant and of the same age can present with significantly different XLRS phenotypes. This highlights the importance of other factors, such as genetic modifiers, epigenetic regulatory events, and environmental influences, in contributing to phenotypic heterogeneity in XLRS patients.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"459-462"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639731","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}

{"title":"Novel <i>KMT2D</i> pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.","authors":"Francisco J López-Font, Sofia De Arrigunaga, Natasha F Santos da Cruz, Jason C Fan, Serena M Shah, Julia L Hudson, Nicholas A Borja, Deborah S Barbouth, Audina M Berrocal","doi":"10.1080/13816810.2025.2505913","DOIUrl":"10.1080/13816810.2025.2505913","url":null,"abstract":"<p><strong>Background: </strong>Kabuki Syndrome (KS) is a rare multiple congenital anomaly syndrome originally described in 1981 by Japanese clinicians. KS belongs to the family of chromatinopathies, a group of disorders characterized by abnormalities in chromatin regulation due to germline mutations in the <i>KMT2D</i> or <i>KDM6A</i> genes. KS is characterized by five cardinal manifestations: (1) postnatal growth deficiency, (2) skeletal anomalies, (3) dermatoglyphic anomalies - including persistent fetal pads, (4) mild-to-moderate intellectual disability, and (5) typical facial features.</p><p><strong>Purpose: </strong>Ocular abnormalities have been reported in more than one-third of patients with KS, but abnormalities involving the retina are rare. Currently, five accounts describing patients with KS and documented macular lesions exist within the literature. However, only two of these reports provide concurrent genetic confirmation.</p><p><strong>Findings: </strong>We describe the unique case of a female infant with molecularly confirmed KS due to a novel pathogenic variant in <i>KMT2D</i> who presented with retinopathy of prematurity (ROP) and bilateral macular lesions.</p><p><strong>Conclusions: </strong>Although our patient accounts for the sixth known case of foveal lesions associated with KS, she represents the third molecularly confirmed case of a de novo, nonsense <i>KMT2D</i> variant with macular abnormalities. In silico analysis with the prediction program MutationTaster found the mutation to be deleterious. Genetic testing, along with ophthalmologic examination and multimodal imaging, are indispensable tools for physicians, especially when confronted with patients suspected of having KS. When effectively used together, these tools can facilitate vision-preserving strategies.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"489-494"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174359","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}

{"title":"Ȧland Island eye disease in two patients harboring novel <i>CACNA1F</i> variants.","authors":"Anna Duemler, Hua Gao, Jennifer Powell, Alessandro Iannaccone, Oleg Alekseev","doi":"10.1080/13816810.2025.2505914","DOIUrl":"10.1080/13816810.2025.2505914","url":null,"abstract":"<p><p>Ȧland Island eye disease (ȦIED) is a rare X-linked recessive condition caused by mutations in the <i>CACNA1F</i> gene. The ȦIED phenotype involves an overlap of canonical features of ocular albinism and congenital stationary night blindness (CSNB), thereby presenting a diagnostic challenge. Genetic testing often cannot distinguish between ȦIED and CSNB, as many mutations in <i>CACNA1F</i> are known to cause either ȦIED, CSNB, or conditions with ambiguous phenotypes along the ȦIED/CSNB continuum. Therefore, it is necessary to expand the landscape of <i>CACNA1F</i> mutations responsible for this spectrum of conditions. We report two novel <i>CACNA1F</i> variants in patients with a clinical presentation of ȦIED, including low visual acuity, congenital nystagmus, high myopia, hypopigmented fundi, foveal hypoplasia, and choroidal thinning. Electroretinographic findings included decreased rod- and cone-mediated responses, electronegative mixed responses, as well as a novel finding of electronegative rod-mediated responses. While these patients' presentations are consistent with ȦIED, future studies will be needed to determine whether these novel <i>CACNA1F</i> variants are exclusive to ȦIED or can cause phenotypes along the entire ȦIED/CSNB2A spectrum.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"495-498"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12353906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120557","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}

{"title":"Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia.","authors":"Maria Isabel Maya Naranjo, Sara Mesa Mesa, Valeria Torres Yepes, Gustavo Adolfo Giraldo Ospina, Maria Adelaida Piedrahita Botero, Carolina Baquero-Montoya, Carlos Felipe Castaño Alzate, Lucelly López López","doi":"10.1080/13816810.2025.2503394","DOIUrl":"10.1080/13816810.2025.2503394","url":null,"abstract":"<p><strong>Introduction: </strong>This original study presents an investigation of ophthalmological manifestations in Mucopolysaccharidosis IVA, a rare genetic disorder with limited characterization, particularly of ocular findings.</p><p><strong>Purpose: </strong>To describe the ophthalmological manifestations in patients with Morquio disease in Medellín, Colombia.</p><p><strong>Study design and methodology: </strong>A cross-sectional study was conducted with 23 patients diagnosed with Morquio syndrome. They underwent a comprehensive ophthalmological evaluation, and clinical findings were recorded in an online Excel sheet. Descriptive statistical methods were then applied, with data reported as absolute frequencies and percentages.</p><p><strong>Results: </strong>Refractive defects were found in 100% of patients, primarily hyperopia. Cataracts were the next most common finding (71%), particularly of the starry nuclear type. Corneal stromal opacity was observed in 60%, with 55% in children. In this group, 40% had moderate severity and 20% had total opacity. In adults, stromal opacity was present in 60%, with 66% showing moderate severity.</p><p><strong>Conclusion: </strong>Most Morquio disease patients in Antioquia exhibit refractive defects, with hyperopia being the most common. Among physical examination findings, stromal corneal opacity and starry nuclear cataracts were the most prevalent.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"454-458"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002755","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}

{"title":"A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.","authors":"Ji Sang Min, Tae-Im Kim, Kyoung-Jin Shin, Jinseok Choi, R Doyle Stulting, Eung Kweon Kim","doi":"10.1080/13816810.2025.2507085","DOIUrl":"10.1080/13816810.2025.2507085","url":null,"abstract":"<p><strong>Purpose: </strong>To report the first case of granular corneal dystrophy type 2 (GCD2) caused by a de novo p.(Arg124His) mutation that was confirmed by paternity testing in a 13-year-old male patient referred for the evaluation of corneal opacities in the left eye.<b>Study design:</b> Clinical case report.</p><p><strong>Methods: </strong>The p.(Arg124His) mutation was identified using direct Sanger sequencing of the entire <i>TGFBI</i> gene. The patient's parents and sister also underwent ophthalmological examination and direct Sanger sequencing of the entire <i>TGFBI</i> gene.</p><p><strong>Results: </strong>No abnormal findings on ophthalmic examination or genetic mutations were found in the parents. In addition, the patient's biological parents were confirmed using DNA paternity testing.</p><p><strong>Conclusion: </strong>A negative family history of GCD2 and the absence of GCD2 in the parents of patients seeking refractive surgery are not sufficient to exclude a diagnosis of GCD2 because some cases of GCD2 arise from de novo mutations.  Exclusion of GCD2 before refractive surgery requires genetic analysis for the p.(Arg124His) mutation.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"513-515"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144485350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The diagnostic value of ultra-widefield fundus imaging technology in early familial exudative vitreoretinopathy.","authors":"Jingjie Liu, Yan Zhang, Zhiyong Zhang","doi":"10.1080/13816810.2025.2505910","DOIUrl":"10.1080/13816810.2025.2505910","url":null,"abstract":"<p><strong>Background: </strong>Familial exudative vitreoretinopathy (FEVR), an inherited retinal vascular disease that severely impairs patients'visual function, requires early diagnosis for effective treatment and prevention. The assessment of vascular and tissue lesions in FEVR has traditionally relied on standard fundus fluorescein angiography (FFA).</p><p><strong>Objective: </strong>This article reviews the advantages of ultra-widefield optical coherence tomography (UWF-OCT), ultra-widefield scanning laser ophthalmoscopy (UWF-SLO), ultra-widefield optical coherence tomography angiography (UWF-OCTA), and ultra-widefield fluorescein angiography (UWF-FFA) in early-stage FEVR diagnosis and treatment, and the limitations of the latter two techniques.</p><p><strong>Materials and methods: </strong>Potentially relevant studies were retrieved from major bibliographic databases (PubMed and Web of Science). The characteristics of the four technical features were analyzed.</p><p><strong>Results: </strong>UWF-OCT and UWF-SLO provide detailed imaging of tractional changes, vitreoretinal adhesions, and TEMPENTINA in various retinal layers in the peripheral retina. UWF-OCTA and UWF-FFA reveal TEMPENTINA, arterial and venous tortuosity, and subclinical retinal vascular alterations, significantly advancing the understanding of FEVR pathogenesis. UWF-OCTA provides near-histological resolution, enabling multi-layered and comprehensive visualization of superficial and deep capillary networks in the peripheral retina, which facilitates follow-up monitoring. Limitations include UWF-OCTA artifacts in superficial vasculature and peripheral signal attenuation, while UWF-FFA carries dye-injection allergy risks.</p><p><strong>Conclusion: </strong>Ultra-widefield imaging technologies have significantly improved the early diagnosis, lesion assessment, and follow-up management of FEVR. UWF-OCTA, with its non-invasive capability and high resolution, is now a primary research focus, though further technical robustness improvements are needed.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"426-434"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584465","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}

{"title":"Intellectual disability and retinitis pigmentosa due to a homozygous null <i>SCAPER</i> variant: a clinical and genetic insight with review of the literature.","authors":"Zehra Manav Yiğit, Osman Semih Dikbaş, Erol Erkan, Gözde Şahin Vural, Gökay Bozkurt","doi":"10.1080/13816810.2025.2485222","DOIUrl":"10.1080/13816810.2025.2485222","url":null,"abstract":"<p><strong>Introduction: </strong>Variations in the SCAPER gene are associated with Intellectual Developmental Disorder and Retinitis Pigmentosa (IDDRP), characterized by visual and neurological symptoms. Despite limited data, SCAPER plays a critical role in cell cycle regulation and ciliary function, which may explain its diverse phenotypic effects. This study aims to report a homozygous NM_020843.4: c.2605 A>T; p.(Lys869*) nonsense variant in SCAPER gene, expanding the phenotypic spectrum of IDDRP and contributing to its clinical and genetic understanding.</p><p><strong>Methods: </strong>Genetic testing and multidisciplinary evaluations were performed on an 11-year-old girl with intellectual disability, retinitis pigmentosa, and dysmorphic features. Clinical exome sequencing identified a homozygous null SCAPER variant, confirmed by Sanger sequencing.</p><p><strong>Results: </strong>Clinical findings revealed bilateral epiretinal membranes, thinning of the ellipsoid zone, and hyperfluorescent rings in fundus autofluorescence imaging. Neurological evaluation showed intellectual disability, ADHD, and corpus callosum abnormalities. Skeletal anomalies, including short stature and genu valgum, were also noted. The variant was classified as likely pathogenic based on ACMG guidelines.</p><p><strong>Discussion: </strong>This report describes the first case of a homozygous c.2605 A>T variant in SCAPER, highlighting its role in ciliary and cell cycle dynamics. These findings contribute to a better understanding of SCAPER-related phenotypes and emphasize the importance of genetic testing in similar cases.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"463-467"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754066","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}