Ophthalmic Genetics最新文献

{"title":"Early symptoms in <i>RPGR</i>-associated retinal degeneration: can we shorten time to diagnosis in the gene therapy era?","authors":"Kari Branham, Chris A Andrews, Dejan Milentijevic, Divya Narayanan, K Thiran Jayasundera","doi":"10.1080/13816810.2025.2525469","DOIUrl":"https://doi.org/10.1080/13816810.2025.2525469","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the earliest characteristics of patients with retinitis pigmentosa GTPase regulator-related retinal degeneration (<i>RPGR-</i>RD).</p><p><strong>Methods: </strong>A retrospective chart review was conducted for patients evaluated at the University of Michigan, Kellogg Eye Center. Patients were classified into 3 phenotypes: rod-cone (RC), cone/cone-rod (CR), and female carriers. Chart review data included clinical diagnosis, age at symptom onset, family history of inherited retinal disease (IRD), patient-reported symptoms, refractive error, and genetic testing information. The relationship between certain covariates and time between (a) symptoms and diagnoses and (b) diagnosis and genetic testing was investigated with proportional hazard modeling.</p><p><strong>Results: </strong>The charts of 131 patients were included: 82 RC, 31 CR, and 18 females. The median (range) ages at symptom onset were: RC, 6 (1-42) years; CR, 28 (1-47) years; and females, 11 (5-34) years. Most (83%) had a family history of IRD. The most common first-documented symptoms were: RC, peripheral vision loss (85%); CR, decreased vision (50%); females, night blindness (57%) and peripheral vision loss (57%). Most patients (80%) were myopic; 24% had high myopia. Time from clinical to genetic diagnosis was shorter given IRD family history (<i>P</i> < 0.001).</p><p><strong>Conclusion: </strong>This study identified characteristics to facilitate earlier diagnosis of <i>RPGR-</i>RD, potentially shortening time to treatment and preventing further vision loss.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.2,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626884","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":"Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis.","authors":"Paulo Victor Zattar Ribeiro, Lucas Pari Mitre, Mateus M Gauza, Paulo Henrique Furukawa, Victor Evangelista De Faria Ferraz, Israel Gomy","doi":"10.1080/13816810.2025.2521647","DOIUrl":"https://doi.org/10.1080/13816810.2025.2521647","url":null,"abstract":"<p><strong>Introduction: </strong>Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by the rapid loss of vision due to the degeneration of retinal ganglion cells. Current therapeutic options are limited. However, idebenone, a synthetic analog of coenzyme Q10, has shown promising neuroprotective properties. This systematic review and meta-analysis aim to evaluate the efficacy of idebenone in improving visual acuity in patients with LHON.</p><p><strong>Methods: </strong>We performed a systematic review on PubMed, Cochrane, and Embase databases on 7 July 2024, for randomized and non-randomized studies analyzing the effect of idebenone on visual acuity in patients with LHON. Analyses were conducted using random-effects models. The main outcome of interest was visual acuity measured by the Logarithm of the Minimum Angle of Resolution (LogMAR). All statistical analyses were performed in R software version 4.3.2, using the \"meta\" and \"metafor\" packages. We registered the study on PROSPERO under protocol number CRD42024617308.</p><p><strong>Results: </strong>Five studies (3 clinical trials and 2 retrospective cohorts) with 375 patients were included. The overall mean LogMAR difference was -0.32 (95% CI: -0.50 to -0.15), with a favorable effect of idebenone as compared to treatment without idebenone. This indicates a meaningful improvement in visual acuity with idebenone therapy, with changes translating to approximately 1.5-5 lines of better visual performance on the LogMAR scale.</p><p><strong>Conclusion: </strong>This systematic review and meta-analysis found a substantial clinical improvement in visual acuity with idebenone therapy among patients with LHON.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626885","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 review of the role of <i>EFEMP1</i> in ophthalmic disease.","authors":"Alex J Wood, Imogen Livingstone, Mark Westcott, Dominic Furniss, Akira Wiberg","doi":"10.1080/13816810.2025.2524511","DOIUrl":"https://doi.org/10.1080/13816810.2025.2524511","url":null,"abstract":"<p><p>EGF-containing fibulin extracellular matrix protein 1 (EFEMP1), or fibulin-3, is an extracellular matrix glycoprotein encoded by the <i>EFEMP1</i> gene. The role of <i>EFEMP1</i> in the human eye is incompletely understood, but there are well-reported associations between mutations in the gene and a variety of ophthalmic diseases, such as myopia, juvenile open-angle glaucoma (JOAG), primary open-angle glaucoma (POAG) and familial drusen formation in Malattia Leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD). Variants which interact with EFEMP1 have also been identified in genome-wide association studies (GWAS) for age-related macular degeneration (AMD). Many of these conditions form a large component of ophthalmology case-load and have incompletely characterized pathogenesis. In this review, we will describe the role of EFEMP1 in ophthalmic disease. We discuss the role of EFEMP1 in Mendelian eye disease, its polygenic contributions to common ophthalmic conditions, and the potential to target EFEMP1 for therapeutic purposes.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-9"},"PeriodicalIF":1.2,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608972","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 retinal imaging findings in a pediatric patient with de novo <i>ACTA2 R179H</i> pathogenic variant.","authors":"Lyvia J Zhang, Sandra Hoyek, Anna Lynch, John B Miller, Ryan Gise, Patricia L Musolino, Nimesh A Patel","doi":"10.1080/13816810.2025.2528041","DOIUrl":"https://doi.org/10.1080/13816810.2025.2528041","url":null,"abstract":"<p><strong>Purpose: </strong>To report clinical and imaging features of a pediatric patient with ACTA2 R179H 50 pathogenic variant using multimodal imaging.</p><p><strong>Case report: </strong>A pediatric patient with a pathogenic <i>ACTA2</i> variant presented with multisystemic 52 symptoms and prominently tortuous retinal vessels as seen on fundus photography, fluorescein 53 angiography, and optical coherence tomography angiography.</p><p><strong>Conclusion: </strong>Non-invasive retinal imaging, including OCTA, may serve as a biomarker of 55 disease severity in pediatric patients. This approach allows for close monitoring of any vascular 56 changes over time.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.2,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575994","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":"An <i>USH2A</i> variant leading to isolated maculopathy: a novel phenotype.","authors":"Param Bhatter, Gabrielle Hallai, Meghan J Debenedictis, Elias I Traboulsi, Alex Yuan","doi":"10.1080/13816810.2025.2528043","DOIUrl":"https://doi.org/10.1080/13816810.2025.2528043","url":null,"abstract":"<p><strong>Introduction: </strong>To describe examination and findings in a case of isolated maculopathy with genetic testing revealing an <i>USH2A</i> genotype.</p><p><strong>Methods/results: </strong>A 65-year-old man was found to have slowly worsening central vision in both eyes over several years. Fundus examination showed parafoveal pigmentary changes with an otherwise normal peripheral exam in both eyes. Fundus autofluorescence revealed parafoveal hypofluorescence with surrounding ring like area of hyperfluorescence, with optical coherence tomography (OCT) showing retinal thinning and parafoveal photoreceptor loss. Multifocal electroretinography (ERG) demonstrated diminished central responses, with full field ERG showing normal scotopic response and reduced photopic responses. Genetic testing for retinal dystrophies revealed a homozygous pathogenic variant in <i>USH2A c.10342G>A, p. Glu3448Lys</i>.</p><p><strong>Discussion: </strong><i>USH2A</i>-associated retinal dystrophy usually presents with a rod-cone phenotype. While reports of a cone-rod phenotype have been described, we present the first reported case of isolated maculopathy in <i>USH2A</i>-associated retinal dystrophy.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584464","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":"https://doi.org/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":"1-9"},"PeriodicalIF":1.2,"publicationDate":"2025-07-07","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":"Tapetal-like reflex in X-linked RPGR-associated retinopathy.","authors":"Srikanta Kumar Padhy, Brijesh Takkar, Sujoy Mukherjee, Raja Narayanan","doi":"10.1080/13816810.2025.2524509","DOIUrl":"10.1080/13816810.2025.2524509","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the clinical, imaging, electrophysiological, and genetic characteristics of male patients with <i>RPGR</i>-associated retinopathy exhibiting tapetal-like reflex (TLR) versus those without (non-TLR).</p><p><strong>Methods: </strong>This retrospective observational study included 9 Indian males from 7 unrelated families with genetically confirmed pathogenic <i>RPGR</i> variants. Patients were divided into TLR (<i>n</i>=6) and non-TLR (<i>n</i>=3) groups based on fundus appearance. Multimodal imaging (fundus photography, fundus autofluorescence [FAF], optical coherence tomography [OCT]) and full-field electroretinography (ERG) were analyzed. Molecular genetic testing was performed to identify <i>RPGR</i> variants.</p><p><strong>Results: </strong>The TLR group showed a characteristic golden, scintillating sheen with radial streaks on fundus exam. Median age of onset was 35 years with worse best-corrected visual acuity (BCVA) (0.66 LogMAR) and higher myopia (median -5.50 D) compared to the non-TLR group (23 years, 0.26 LogMAR, -1.00 D). FAF in the TLR group revealed central confluent or patchy macular atrophy surrounded by hyper-autofluorescence, whereas the non-TLR group exhibited widespread mid-peripheral degeneration and bull's eye maculopathy. OCT showed complete outer retinal atrophy (cRORA) in most TLR eyes and incomplete atrophy (iRORA) with preserved ellipsoid zone in the youngest patient. Non-TLR eyes demonstrated milder retinal atrophy with limited ellipsoid zone preservation. Full-field ERG demonstrated preserved scotopic but extinguished photopic responses in TLR eyes, while non-TLR eyes had extinguished photopic and severely reduced scotopic responses. All variants were hemizygous RPGR mutations in exon 15, predominantly frameshift or stop-gain mutations.</p><p><strong>Conclusions: </strong>Tapetal-like reflex in male <i>RPGR</i>-associated retinopathy correlates with a cone-rod dystrophy-like phenotype featuring later onset, severe central atrophy, and predominant photopic dysfunction. In contrast, absence of TLR associates with rod-cone dystrophy-like features. Recognition of TLR may aid clinical classification, early diagnosis, and prognosis in RPGR-related retinal disease.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529124","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":"Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for <i>GLIS3</i> deletion: case report and review of literature.","authors":"Faeeqah Almhmoudi, Ghufran Abudawood, Arif O Khan, Ashraf Dallol, Naif Almontashiri, Amal Alhashem","doi":"10.1080/13816810.2025.2514526","DOIUrl":"10.1080/13816810.2025.2514526","url":null,"abstract":"<p><strong>Background: </strong>GLI-Similar 3 (<i>GLIS3</i>) gene plays a critical role in the regulation of several biological processes and is implicated in the development of various diseases. However, documentation regarding congenital glaucoma and other ophthalmic features in patients with <i>GLIS3</i> variants is lacking. We aimed to expand the ophthalmological features related to <i>GLIS3</i> deletion.</p><p><strong>Methods: </strong>We present a case report of two Saudi Arabian siblings with congenital glaucoma, congenital diabetes mellitus, and congenital hypothyroidism. Full ophthalmological examination, medical evaluation, and genetic testing of all family members were conducted.</p><p><strong>Results: </strong>In both patients, ophthalmic assessments revealed congenital glaucoma, high hyperopia, and short axial length of the globe. Genetic testing confirmed the presence of a large homozygous deletion, including the non-coding exon 1 and the entire coding exon 2 of the <i>GLIS3</i> gene. Endocrine abnormalities included neonatal diabetes, congenital hypothyroidism, along with characteristic facial features that shows a long philtrum and thin and tight upper lip. Genetic testing of other siblings showed a heterozygous deletion of the <i>GLIS3</i> gene. Although their ophthalmic examinations were unremarkable, all carriers presented with juvenile hypothyroidism.</p><p><strong>Conclusion: </strong>Congenital glaucoma is commonly associated with myopia. We report an association between congenital glaucoma and high hyperopia related to <i>GLIS3</i> partial deletion, which to our knowledge, has not been previously reported. We recommend that pediatric patients with neonatal diabetes and hypothyroidism to be evaluated for congenital glaucoma. Additionally, we suggest screening carriers for hypothyroidism.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-12"},"PeriodicalIF":1.2,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529123","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 novel <i>PAX2</i> heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.","authors":"C Bourke, D A Thompson, M Moosajee, I C Lloyd","doi":"10.1080/13816810.2025.2519747","DOIUrl":"https://doi.org/10.1080/13816810.2025.2519747","url":null,"abstract":"<p><strong>Purpose: </strong>To describe previously unreported ocular manifestations associated with a de novo <i>PAX2</i> variant and emphasise their diagnostic significance in <i>PAX2</i> related disorder.</p><p><strong>Methods: </strong>A two month old boy underwent comprehensive ocular assessment (cycloplegic refraction, slit lamp biomicroscopy, axial length, and fundus imaging), full field and multifocal electroretinography, high resolution orbital MRI, and renal ultrasonography. Trio whole genome sequencing (WGS) was performed to identify pathogenic variants.</p><p><strong>Results: </strong>Ophthalmic evaluation revealed asymmetric microcornea (9.5 mm OD, 10.8 mm OS), microphthalmos (axial length 17.1 mm OD, 18.4 mm OS), anterior segment dysgenesis with shallow anterior chambers, and high myopia (12.50 D OD, 10.75 D OS). Fundus photography demonstrated bilateral, steeply excavated optic discs bordered by circumferential peripapillary retinal pigment epithelium agenesis. Multifocal ERG showed markedly reduced central responses, consistent with bilateral macular pathway dysfunction; full field ERG was otherwise within age matched limits. Orbital MRI confirmed fusiform enlargement of the intra orbital optic nerves and colobomatous optic nerve head defects, with anomalous infra orbital optic nerve sheaths. Renal ultrasound was normal. Trio WGS identified a de novo heterozygous <i>PAX2</i> frameshift variant, c.76dup p.(Val26GlyfsTer28), classified as pathogenic (ACMG criteria PVS1, PS2).</p><p><strong>Conclusions: </strong>This case expands the phenotypic spectrum of <i>PAX2</i> related disorder to include anterior segment dysgenesis, axial myopia, peripapillary RPE agenesis, and abnormal infra orbital optic nerve sheaths in the absence of renal hypodysplasia. Recognition of these atypical ocular findings should prompt targeted genetic testing for <i>PAX2</i>, facilitating accurate diagnosis, anticipatory renal surveillance, and informed genetic counselling.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529122","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 novel <i>NR2F1</i>-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.","authors":"Takaaki Hayashi, Kei Mizobuchi, Akiko Suga, Kazutoshi Yoshitake, Takeshi Iwata","doi":"10.1080/13816810.2025.2522365","DOIUrl":"https://doi.org/10.1080/13816810.2025.2522365","url":null,"abstract":"<p><strong>Background: </strong>Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder that typically presents in early childhood. It is characterized by intellectual disability, developmental delay, and visual impairment, with optic atrophy being the most prominent ophthalmologic feature. The <i>nuclear receptor subfamily 2, group F, member 1</i> (<i>NR2F1</i>) gene is currently the only known causative gene associated with BBSOAS. To date, no cases of BBSOAS have been reported in the Japanese population.</p><p><strong>Cases presentation: </strong>We reported a 13-year-old Japanese male suspected of having BBSOAS, who presented with decreased visual acuity due to bilateral optic atrophy, as well as intellectual disability and developmental delay. Microarray-based comparative genomic hybridization (array-CGH), followed by whole-genome sequencing (WGS), identified a novel <i>de novo</i> 1.48-Mb heterozygous microdeletion involving <i>NR2F1</i>.</p><p><strong>Conclusions: </strong>This is the first reported case of BBSOAS in a Japanese patient. These findings highlight the utility of array-CGH and WGS as powerful tools for detecting <i>NR2F1</i>-related microdeletions. BBSOAS should be considered in the differential diagnosis of patients presenting with developmental delay, intellectual disability, and visual impairment, even in the absence of a family history.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144507336","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}