Ophthalmic Genetics最新文献

{"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":"<p><strong>Introduction: </strong>Autoimmunity is prevalent in Turner syndrome (TS) though uveitis is rarely reported. A definite link between TS and uveitis is not yet established.</p><p><strong>Methods: </strong>We report two cases of uveitis with a history of TS and review the literature regarding TS, uveitis and autoimmunity.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","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}

{"title":"ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study.","authors":"Rebecca Hong, Tiffany C S Lo, Thomas Gordon Campbell, Emily Caruso, Jennifer A Thompson, Fred K Chen, Nandini Singh","doi":"10.1080/13816810.2025.2474024","DOIUrl":"10.1080/13816810.2025.2474024","url":null,"abstract":"<p><strong>Background: </strong>ROSAH syndrome is an autosomal dominant systemic disease featuring <i>r</i>etinal dystrophy, <i>o</i>ptic nerve edema, <i>s</i>plenomegaly, <i>a</i>nhidrosis and migrainous <i>h</i>eadache. Ocular manifestation of ROSAH syndrome can simulate posterior uveitis, vasculitis, generalized retinal dystrophy and neuroretinitis.</p><p><strong>Purpose: </strong>To report a case of a 17-year-old female presenting with recurrent vitreous hemorrhage on a background of dental anomalies and anhidrosis.</p><p><strong>Materials and methods: </strong>This case report illustrates the clinical findings and multimodal imaging features including spectral domain optical coherence tomography (OCT), OCT angiography (OCTA), fundus autofluorescence (FAF), ultrawide-field Optos fluorescein angiography (FA) and electrophysiology.</p><p><strong>Results: </strong>A retinal dystrophy panel detected the c.710C>T p.Thr237Met variant, confirming genetic diagnosis of ROSAH syndrome. This case further elaborates, by way of multimodal imaging, on two striking features recently described in the literature-preretinal neovascularisation around the disc and along the vascular arcades, as well as an isolated expanding hyperautofluorescent ring around the disc. The use of widefield OCTA complemented the findings of FA in demonstrating the lack of retinal capillary closure. The macular edema was responsive to anti-vascular endothelium growth factor (anti-VEGF) injection, however only for a period of 6-weeks before reoccurrence.</p><p><strong>Conclusions: </strong>This report provides new insights into ROSAH phenotype. Anti-VEGF can be considered as a short-term treatment for ROSAH-associated macular edema.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"313-317"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605619","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":"Analysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with <i>THBS1</i> Arg1034Cys.","authors":"Bindu I Somarajan, Renu Singh, Arnav Panigrahi, Arundhati Sharma, Shikha Gupta, Janey L Wiggs, Viney Gupta","doi":"10.1080/13816810.2025.2470216","DOIUrl":"10.1080/13816810.2025.2470216","url":null,"abstract":"<p><strong>Purpose: </strong>To analyze exome sequence data from Indian cases with primary congenital glaucoma (PCG) for pathogenic variants.</p><p><strong>Materials/methods: </strong>In this cross-sectional observational study, ten consecutive, unrelated patients with a clinical diagnosis of PCG residing in India were enrolled. Medical history, family history, and complete ocular examination were carried out for all patients. Whole-exome sequencing was performed and analyzed for pathogenic variants.</p><p><strong>Results: </strong>Pathogenic or likely pathogenic variants in <i>CYP1B1 and FOXC1</i> were identified in 3 cases, <i>CYP1B1</i> c.1169 G>A; p.Arg390His (homozygous in 2 cases) and <i>FOXC1</i> c479_481; p.Asn160del in one case. One case carried a single <i>CYP1B1</i> allele c.1094 G>A; p.Gly365Glu that was predicted to be pathogenic and another case carried a <i>TEK</i> variant of uncertain significance (c.1798 G>T; p.Val600Leu). Of interest, one case was found to harbor a recently described <i>THBS1</i> missense allele (c.3100C>T; p.Arg1034Cys) involving the same amino acid residue (p.Arg1034) previously found to be altered in three PCG families with diverse ancestry.</p><p><strong>Conclusions: </strong>Likely disease-causing variants in previously known early onset glaucoma genes were identified in 4 of 10 cases analyzed in this study, including a recurrent <i>THBS1</i> missense mutation p.Arg1034Cys. This study is the second report of a <i>THBS1</i> missense mutation in PCG and provides additional support for the contribution of this gene to PCG phenotypes.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"276-280"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143493158","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":"<i>ABCC6</i> gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks.","authors":"Jaime Rosales-Padron, Oscar F Chacon-Camacho, Vianey Ordoñez-Labastida, Gerardo Ledesma-Gil, Federico Graue-Wiechers, Juan Carlos Zenteno","doi":"10.1080/13816810.2025.2473974","DOIUrl":"10.1080/13816810.2025.2473974","url":null,"abstract":"<p><strong>Objective: </strong>Angioid streaks (AS) are uncommon retinal lesions associated with significant risk of vision loss due to choroidal neovascularization. About half of AS cases have a concurrent disease, most commonly pseudoxanthoma elasticum (PXE), a recessively inherited disorder that affects the skin, the eye, and vascular system and caused by biallelic mutations in the <i>ABCC6</i> gene. In this work, we describe the ocular phenotype and the <i>ABCC6</i> mutational profile in a cohort of 17 AS Mexican patients.</p><p><strong>Methods: </strong>17 unrelated AS probands, with or without concurrent dermatologic features were studied. <i>ABCC6</i> mutational analysis was performed employing next-generation sequencing (NGS) gene panel or exome sequencing.</p><p><strong>Results: </strong>Biallelic pathogenic variants in <i>ABCC6</i> were demonstrated in 10 out of 17 (~60%) AS patients confirming a PXE diagnosis. In 4 individuals, only heterozygous <i>ABCC6</i> variants were recognized while in 3 cases no mutations in AS-related genes were identified. A total of 7 previously unpublished <i>ABCC6</i> disease-causing variants were identified in our cohort, including 5 missense, 1 frameshift, and 1 intragenic deletion.</p><p><strong>Conclusion: </strong>In most subjects from our cohort, AS were due to genetically confirmed PXE, as previously observed in other ethnic groups. We expanded the <i>ABCC6</i>-related mutational spectrum by recognizing 7 previously unpublished pathogenic variants.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"237-242"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567828","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 ethnic disparity in the diagnostic yield of high-throughput next-generation sequencing in inherited retinal diseases: a systematic review and meta-analysis.","authors":"Ting-Yi Lin, Ching-Yun Wang, Lawrence Chen, Shun-Ping Huang","doi":"10.1080/13816810.2025.2464843","DOIUrl":"10.1080/13816810.2025.2464843","url":null,"abstract":"<p><strong>Objective: </strong>Next-generation sequencing (NGS) is the state-of-the-art molecular diagnostics for genetic heterogenous inherited-retinal diseases (IRDs). However, the impact of ethnic discrepancy in NGS diagnostic yields for patients with IRD is unclear. Therefore, we performed a systemic review (SR) and meta-analysis (MA) to delineate this issue.</p><p><strong>Methods: </strong>MEDLINE and PubMed databases were searched on 30 January 2024. Original studies published between 2013 and 2024 that reported the IRD diagnostic yield of panel-based sequencing was eligible for inclusion. The diagnostic yield is defined as the proportion of patients with a molecular diagnosis after high-throughput panel screening. Studies were stratified by IRD enrollment phenotype and patient ancestry.</p><p><strong>Results: </strong>A total of 42 studies comprising 23,324 patients evaluated for diagnosis yield were included in the meta-analysis. The pooled diagnostic yield was 0.570 [0.530,0.610] across studies with IRD-related enrollment and 0.617 [0.568; 0.664] for those with IRD enrollment. The stratification of studies for ancestry produced a diagnostic yield of 0.629 [0.568; 0.688] in Europeans, and the diagnostic yield dropped to 0.549 [0.456; 0.641] for East Asians. There is a lack of available data for Latin American evidence meta-synthesis.</p><p><strong>Conclusions: </strong>This review supports the existence of ethnic disparity in panel-based sequencing for IRDs. Specifically, a relatively lower diagnostic yield and a higher inconclusive diagnosis rate are present in East Asian populations compared to the European population. Consequently, our findings should prompt future reclassification of variants of unknown significance (VUS) in non-whites to improve the ethnic inequities of molecular diagnostic yields for IRDs.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"215-224"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657986","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":"Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers.","authors":"Rebecca Clark, Haider Sarwar, Leland Wong, Elizabeth White, Lesley Everett, Molly Marra","doi":"10.1080/13816810.2025.2463679","DOIUrl":"10.1080/13816810.2025.2463679","url":null,"abstract":"<p><strong>Introduction: </strong>X-linked inherited retinal diseases (XL-IRDs) are genetic disorders that typically present with higher disease burden in individuals assigned male at birth, often resulting in significant vision loss. Individuals assigned female at birth (AFAB) may also experience symptoms. Understanding the role of genetic counseling and testing in reproductive decision-making for AFAB individuals with XL-IRDs is crucial for improving reproductive empowerment.</p><p><strong>Methods: </strong>This study surveyed AFAB individuals with a confirmed or family history of XL-IRDs. Eligible participants completed an anonymous online survey between July 2023 and November 2023, which collected data on genetic testing, counseling experiences, and the impact of these on reproductive decision making.</p><p><strong>Results: </strong>Of the 118 survey respondents, 67% had confirmed genetics or a family history of <i>CHM</i>-related disease, 23% of <i>RPGR/RP2</i>, 5% of <i>RS1</i>, and 3% of <i>NYX/CACNA1F</i>. Fifty five percent of respondents would have preferred genetic testing earlier if it had been possible. Only 26 respondents (22.0%) received some sort of reproductive genetic counseling, the majority of which were counseled by a genetic counselor at a retinal dystrophy clinic. Most XX individuals with confirmed genetics or a family history of XL-IRDs had not received reproductive counseling about their diagnosis. However, their personal and familial experiences with an XL-IRD variably impacted their reproductive decision-making process.</p><p><strong>Conclusion: </strong>Recognition that retinal dystrophy clinics are the primary location for XL-IRD reproductive risk counseling informs the timing and content of counseling by ophthalmic genetics providers and genetic counselors.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"243-248"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414525","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":"Genotype-phenotype relationship in <i>RDH12</i> retinopathy: a perspective from a pediatric age group.","authors":"Giacomo Maria Bacci, Pina Fortunato, Silvia Cestaro, Lucia Tiberi, Elia Dirupo, Rosangela Artuso, Viviana Palazzo, Fabiana D'Esposito, Caterina Gagliano, Elisa Marziali, Andrea Sodi, Ilaria Passerini, Elisabetta Pelo, Sara Bargiacchi, Roberto Caputo","doi":"10.1080/13816810.2025.2470199","DOIUrl":"10.1080/13816810.2025.2470199","url":null,"abstract":"<p><strong>Introduction: </strong>Monocentric retrospective case series to describe clinical and molecular peculiarities in a series of pediatric patients in attempting a possible genotype-phenotype correlation.</p><p><strong>Methods: </strong>We included 13 pediatric patients from 7 unrelated families (ages 1-18) with biallelic pathogenic and likely pathogenic variants in RDH12 gene. For all our patients segregation analyses were performed in their parents and affected siblings. According to their cooperation, patients underwent a complete ophtalmic examination and imaging with full field standard electroretinography (ffERG), spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF).</p><p><strong>Results: </strong>According to previous studies, we did not observe a conclusive genotype-phenotype correlation in our series, nevertheless we reported 2 new RDH12 likely pathogenic variants. Also, we report clinical data on pediatric patients, with the fundus imaging in the youngest child (2 yo) described in the literature in whom retinal dystrophic changes are already present.</p><p><strong>Discussion: </strong>This study includes a collection of genotypic and phenotypic data from children with RDH12-associated IRD. These findings will help further characterize RDH12-related retinopathy. Determining the time window of onset of dystrophic changes is critical to research the correct timing for administering possible therapies. More extensive and functional studies are needed in view of the opportunity of gene replacement therapy for RDH12 associated IRD.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"267-275"},"PeriodicalIF":1.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567830","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":"<i>WDR19</i>-associated retinopathy presenting with adult-onset Stargardt-like phenotype.","authors":"Annamaria Nunziata, Alessio Antropoli, Lorenzo Bianco, Sebastiano Del Fabbro, Alessandro Arrigo, Gabriella Doddato, Paola Carrera, Francesco Bandello, Maurizio Battaglia Parodi","doi":"10.1080/13816810.2025.2463145","DOIUrl":"10.1080/13816810.2025.2463145","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic variants in the <i>WDR19</i> gene are linked to a spectrum of ciliopathies, which can present with ophthalmic symptoms. In this study, we describe the multimodal imaging findings of a patient with an adult-onset Stargardt-like phenotype associated with biallelic <i>WDR19</i> variants.</p><p><strong>Methods: </strong>The patient underwent a comprehensive ophthalmologic evaluation, including slit-lamp examination, optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT-angiography (OCTA). Genetic testing was conducted using next-generation sequencing (NGS).</p><p><strong>Results: </strong>The patient carried the <i>WDR19</i> p.(Arg477Leu) missense variant (class 3) in trans with the c.1777 + 1delG splice variant (class 4), never described before in association with a clinical phenotype. Multimodal imaging revealed bilateral areas of definitely decreased autofluorescence (DDAF), which progressively expanded over time. Additionally, bilateral thickening of the ellipsoid zone and intraretinal cysts in the left eye were observed.</p><p><strong>Conclusions: </strong>Biallelic variants in the <i>WDR19</i> gene can cause an autosomal recessive, adult-onset Stargardt-like phenotype. Ophthalmologists should consider this as possible molecular differential diagnosis when encountering atypical features on multimodal imaging in cases with negative genetic testing for <i>ABCA4</i>.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"281-284"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449560","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":"ICAM-1 K469E gene polymorphism, genotype-phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients.","authors":"Sanjana B Singh, Sudha Ramalingam, Ramalingam Sankaran, Merlin Veronika, Jeevamala Mercy Janaki","doi":"10.1080/13816810.2024.2447498","DOIUrl":"https://doi.org/10.1080/13816810.2024.2447498","url":null,"abstract":"<p><strong>Context: </strong>The role of genetic factors in the development of diabetic retinopathy is evident from the fact that only 50% of patients with the non-proliferative type of diabetic retinopathy progress to proliferative diabetic retinopathy. Though the K469E polymorphism of the ICAM-1 (Intercellular Adhesion Molecule-1) gene is known to increase the risk of developing Diabetic Retinopathy (DR) among Type 2 diabetic patients, its role in the development of severe DR has not been extensively studied.</p><p><strong>Aim: </strong>Hence, we aimed to determine the risk due to association of K469E polymorphism of ICAM-1 gene and sight threatening diabetic retinopathy.</p><p><strong>Methods: </strong>Two ml of blood collected from the patients was analyzed with PCR RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) to detect K469E (rs5498) polymorphism of the ICAM-1 gene.</p><p><strong>Statistical analysis: </strong>Data were analyzed using IBM SPSS (Statistical Package for the Social Sciences) package, standard methods like Chi-square, T test, and multivariate logistic regression was used for comparing the variables.</p><p><strong>Results: </strong>The frequencies of three different genotypes among the patients with STDR (Sight-threatening Diabetic Retinopathy) are 26.9% AA, 53.8% AG, and 19.3% GG. The risk of developing STDR increased among the GG genotype with raised HbA1C levels (OR = 1.960, 95% CI 1.076 to 3.570 and <i>p</i> = 0.028) and raised fasting blood sugar (OR = 1.016, 95% CI 1.000 to 1.034 and <i>p</i> = 0.056). AG genotype with extra-retinal ocular complications of diabetes showed a greater risk of developing STDR (OR = 5.143, 95% CI 1.388 to 19.052 and <i>p</i> = 0.014).</p><p><strong>Conclusion: </strong>No association was observed between any of the genotypes of ICAM-1 K469E polymorphism and the development of STDR. GG genotype is associated with the development of STDR in the presence of elevated glycosylated hemoglobin levels and elevated fasting blood sugar levels. AG genotype with extra-retinal diabetic ocular complications has a greater chance of developing STDR. However, there was no difference between the three genotypes of ICAM-1 K469E polymorphism in predisposing to the development of STDR.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":"46 2","pages":"154-159"},"PeriodicalIF":1.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029924","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":"Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.","authors":"Randy Asiamah, Samuel Kyei, Paul Owusu, Keren Koomson, Prince Arthur","doi":"10.1080/13816810.2024.2447501","DOIUrl":"10.1080/13816810.2024.2447501","url":null,"abstract":"<p><strong>Purpose: </strong>This study sought to analyze the effect of allele mutations and gene functions specific to glaucoma susceptibility among Africans.</p><p><strong>Methods: </strong>Potentially relevant studies were retrieved from major bibliographic databases (PubMed, Scopus, and Web of Science). Data were extracted and study-specific estimates were meta-analyzed using various models to obtain pooled results.</p><p><strong>Results: </strong>A total of 11 studies were included in the study. The studies included a total of 3,191 cases with glaucoma and 3,013 controls across all variants. There is no association between the E396E variants of the myocilin (MYOC) gene and an increased likelihood of susceptibility to POAG (OR: 0.91 [95% CI 0.42 to 1.97]). The R141L variant of the Lysyl Oxidase Like 1 (LOXL1) gene is associated with an approximately 3-fold increased likelihood of susceptibility to exfoliative syndrome/exfoliative glaucoma (XFS/XFG) (OR: 2.68 [95% CI 0.04 to 198.94]). There is no association between the G153D variant of the LOXL1 gene and an increased likelihood of susceptibility to XFS/XFG (OR: 0.42 [95% CI 0.02 to 7.65]). The rs59892895*C variant of the Amyloid Beta Precursor Protein Binding Family B Member 2 (APBB2) is associated with a 34% increased likelihood of susceptibility to POAG (OR: 1.34 [95% CI 1.13 to 1.58]).</p><p><strong>Conclusion: </strong>Although progress has been made in understanding the genetic basis of the pathogenesis of glaucoma, several gene mutations related to glaucoma pathogenesis in Africans are yet to be discovered, especially those associated with the pathogenesis of POAG, the most prevalent glaucoma subtype in Africa.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"110-121"},"PeriodicalIF":1.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932165","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}