Pub Date : 2024-06-01Epub Date: 2024-03-25DOI: 10.1080/13816810.2024.2303786
Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno, Gerardo Ledesma-Gil
Introduction: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS.
Methods: Case report.
Results: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid.
Conclusion: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.
{"title":"Macular atrophy and focal choroidal excavation in a patient with <i>JAG1</i>- related alagille syndrome.","authors":"Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno, Gerardo Ledesma-Gil","doi":"10.1080/13816810.2024.2303786","DOIUrl":"10.1080/13816810.2024.2303786","url":null,"abstract":"<p><strong>Introduction: </strong>Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid.</p><p><strong>Conclusion: </strong>The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207412","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}
Purpose: A large number of epidemiological studies have shown that myopia is a complex disease involving genetic, environmental, and behavioral factors. The purpose of this study was to explore the role of PAX6 gene methylation in myopia in Chinese adolescents.
Methods: Eighty junior high school students were divided into four groups based on their vision test results: mild myopia, moderate myopia, severe myopia, and non-myopia control. The methylation level of PAX6 gene promoter was detected by bisulfate pyrosequencing.
Results: The methylation level of PAX6 gene in myopia group (8.06% ± 1.43%) was slightly but significantly higher than that in non-myopia controls (7.26% ± 1.17%). In addition, PAX6 gene methylation levels presented a decreasing pattern along with the aggravation of myopia. Post-hoc analysis indicated significant inter-group differences for the mild myopia group and other groups (All p < .05). In the subgroup analysis by gender, the methylation level of PAX6 gene promoter in girls was higher than that in boys (p = .023). The ROC curves showed a high accuracy of PAX6 gene methylation to predict mild myopia (AUC (95% CI) = 0.828 (0.709-0.947), p < .001).
Conclusions: The methylation of PAX6 gene might play a role in the onset and progression of myopia in Chinese adolescents. And this could potentially explore the potential molecular mechanisms of juvenile myopia in the future.
{"title":"<i>PAX6</i> gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy.","authors":"Danjie Jiang, Shujuan Lin, Qinghai Gong, Jia Hong, Jinghui Wang, Hua Gao, Yanbo Guo, Feng Tong, Yan Zhang","doi":"10.1080/13816810.2024.2315152","DOIUrl":"10.1080/13816810.2024.2315152","url":null,"abstract":"<p><strong>Purpose: </strong>A large number of epidemiological studies have shown that myopia is a complex disease involving genetic, environmental, and behavioral factors. The purpose of this study was to explore the role of PAX6 gene methylation in myopia in Chinese adolescents.</p><p><strong>Methods: </strong>Eighty junior high school students were divided into four groups based on their vision test results: mild myopia, moderate myopia, severe myopia, and non-myopia control. The methylation level of PAX6 gene promoter was detected by bisulfate pyrosequencing.</p><p><strong>Results: </strong>The methylation level of PAX6 gene in myopia group (8.06% ± 1.43%) was slightly but significantly higher than that in non-myopia controls (7.26% ± 1.17%). In addition, PAX6 gene methylation levels presented a decreasing pattern along with the aggravation of myopia. Post-hoc analysis indicated significant inter-group differences for the mild myopia group and other groups (All <i>p</i> < .05). In the subgroup analysis by gender, the methylation level of PAX6 gene promoter in girls was higher than that in boys (<i>p</i> = .023). The ROC curves showed a high accuracy of PAX6 gene methylation to predict mild myopia (AUC (95% CI) = 0.828 (0.709-0.947), <i>p</i> < .001).</p><p><strong>Conclusions: </strong>The methylation of PAX6 gene might play a role in the onset and progression of myopia in Chinese adolescents. And this could potentially explore the potential molecular mechanisms of juvenile myopia in the future.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140294120","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}
Pub Date : 2024-05-20DOI: 10.1080/13816810.2024.2352377
Rola Ba-Abbad
{"title":"Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis.","authors":"Rola Ba-Abbad","doi":"10.1080/13816810.2024.2352377","DOIUrl":"https://doi.org/10.1080/13816810.2024.2352377","url":null,"abstract":"","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066089","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}
Pub Date : 2024-04-25DOI: 10.1080/13816810.2024.2330389
J. Karuntu, F. Klouwer, Marc Engelen, C. J. F. Boon
PURPOSE This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder. METHODS Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Medical records were reviewed for medical history and systemic manifestations of ZSD. RESULTS Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in PEX1 and one patient was compound heterozygous for c.2528 G>A (p.Gly843Asp) and c.2097_2098insT (p.Ile700TyrfsTer42) in PEX1. Median age was 22.6 years (interquartile range (IQR): 15.9 - 29.9 years) at the most recent examination, with a median symptom duration of 22.1 years. Symptom onset was variable with presentations of hearing loss (n = 7) or nyctalopia/reduced visual acuity (n = 3) at a median age of 6 months (IQR: 1.9-8.3 months). BCVA (median of 0.8 logMAR; IQR: 0.6-0.9 logMAR) remained stable over 10.8 years and all patients were hyperopic. Fundus examination revealed a variable retinitis pigmentosa (RP)-like phenotype with rounded hyperpigmentations as most prominent feature in six out of nine patients. Electroretinography, visual field measurements, and microperimetry further established the RP-like phenotype. Multimodal imaging revealed significant intraretinal fluid cavities on SD-OCT and a remarkable pattern of hyperautofluorescent abnormalities on FAF in all patients. CONCLUSION This study highlights the ophthalmological phenotype resembling RP with moderate to severe visual impairment in patients with mild ZSD. These findings can aid ophthalmologists in diagnosing, counselling, and managing patients with mild ZSD.
目的本横断面研究描述了来自六个不同家族的 10 名患者的眼科和一般表型，这些患者患有相对轻微的泽尔维格谱系障碍（Zellweger spectrum disorder，ZSD），这是一种罕见的过氧化物酶体紊乱。方法眼科评估包括最佳矫正视力（BCVA）、周视力、显微周视力、眼底镜检查、眼底摄影、光谱域光学相干断层扫描（SD-OCT）和眼底自动荧光（FAF）成像。结果9名患者为PEX1中c.2528 G > A (p.Gly843Asp)变异的同源杂合子，1名患者为PEX1中c.2528 G > A (p.Gly843Asp)和c.2097_2098insT (p.Ile700TyrfsTer42)的复合杂合子。最近一次检查时的中位年龄为 22.6 岁（四分位距（IQR）：15.9 - 29.9 岁），中位症状持续时间为 22.1 年。起病症状不一，中位年龄为 6 个月（IQR：1.9-8.3 个月）时出现听力下降（7 例）或夜盲症/视力下降（3 例）。BCVA（中位数为 0.8 logMAR；IQR：0.6-0.9 logMAR）在 10.8 年中保持稳定，所有患者均为远视。眼底检查显示，9 名患者中有 6 人的视网膜色素变性（RP）表型各异，圆形色素沉着是最显著的特征。视网膜电图、视野测量和微观视力测定进一步确定了 RP 样表型。多模态成像在 SD-OCT 上显示出明显的视网膜内腔积液，在 FAF 上显示出显著的高自发荧光异常。这些发现有助于眼科医生对轻度 ZSD 患者进行诊断、咨询和管理。
{"title":"Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.","authors":"J. Karuntu, F. Klouwer, Marc Engelen, C. J. F. Boon","doi":"10.1080/13816810.2024.2330389","DOIUrl":"https://doi.org/10.1080/13816810.2024.2330389","url":null,"abstract":"PURPOSE\u0000This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder.\u0000\u0000\u0000METHODS\u0000Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Medical records were reviewed for medical history and systemic manifestations of ZSD.\u0000\u0000\u0000RESULTS\u0000Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in PEX1 and one patient was compound heterozygous for c.2528 G>A (p.Gly843Asp) and c.2097_2098insT (p.Ile700TyrfsTer42) in PEX1. Median age was 22.6 years (interquartile range (IQR): 15.9 - 29.9 years) at the most recent examination, with a median symptom duration of 22.1 years. Symptom onset was variable with presentations of hearing loss (n = 7) or nyctalopia/reduced visual acuity (n = 3) at a median age of 6 months (IQR: 1.9-8.3 months). BCVA (median of 0.8 logMAR; IQR: 0.6-0.9 logMAR) remained stable over 10.8 years and all patients were hyperopic. Fundus examination revealed a variable retinitis pigmentosa (RP)-like phenotype with rounded hyperpigmentations as most prominent feature in six out of nine patients. Electroretinography, visual field measurements, and microperimetry further established the RP-like phenotype. Multimodal imaging revealed significant intraretinal fluid cavities on SD-OCT and a remarkable pattern of hyperautofluorescent abnormalities on FAF in all patients.\u0000\u0000\u0000CONCLUSION\u0000This study highlights the ophthalmological phenotype resembling RP with moderate to severe visual impairment in patients with mild ZSD. These findings can aid ophthalmologists in diagnosing, counselling, and managing patients with mild ZSD.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140659067","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}
Pub Date : 2024-04-17DOI: 10.1080/13816810.2024.2339959
Aran Koye, Mattias Nilsson, David Epstein, Mikael Oscarson, Kristina Teär Fahnehjelm
Homocystinuria (HCU) is a rare metabolic disease that affects many organs, including the eyes. Aims: to assess visual functions, ocular characteristics, visual quality of life and time from the ons...
{"title":"Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria","authors":"Aran Koye, Mattias Nilsson, David Epstein, Mikael Oscarson, Kristina Teär Fahnehjelm","doi":"10.1080/13816810.2024.2339959","DOIUrl":"https://doi.org/10.1080/13816810.2024.2339959","url":null,"abstract":"Homocystinuria (HCU) is a rare metabolic disease that affects many organs, including the eyes. Aims: to assess visual functions, ocular characteristics, visual quality of life and time from the ons...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140612391","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}
Pub Date : 2024-04-15DOI: 10.1080/13816810.2024.2337882
Ayna Sariyeva Ismayilov, Okan Akaci
To evaluate the corneal endothelial cell morphology in children with autosomal recessive Alport syndrome (ARAS).This is a longitudinal, prospective cohort study that evaluated pediatric patients wi...
{"title":"Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study","authors":"Ayna Sariyeva Ismayilov, Okan Akaci","doi":"10.1080/13816810.2024.2337882","DOIUrl":"https://doi.org/10.1080/13816810.2024.2337882","url":null,"abstract":"To evaluate the corneal endothelial cell morphology in children with autosomal recessive Alport syndrome (ARAS).This is a longitudinal, prospective cohort study that evaluated pediatric patients wi...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140591694","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}
Pub Date : 2024-04-15DOI: 10.1080/13816810.2024.2321871
Tariq A. Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad
This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot—Marie—Tooth disease type 5.A 38-year-old female with bilaterally subnormal vision an...
{"title":"PRPS1-associated retinopathy: a diagnostic odyssey","authors":"Tariq A. Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad","doi":"10.1080/13816810.2024.2321871","DOIUrl":"https://doi.org/10.1080/13816810.2024.2321871","url":null,"abstract":"This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot—Marie—Tooth disease type 5.A 38-year-old female with bilaterally subnormal vision an...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140591296","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}
The study aimed to investigate the association of IL-6 and IL-10 polymorphisms with susceptibility to glaucoma by analyzing all relevant individual studies.Relevant articles were gathered from PubM...
该研究旨在通过分析所有相关研究，探讨IL-6和IL-10多态性与青光眼易感性的关系。
{"title":"Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis","authors":"Ahmadreza Golshan-Tafti, Mohammad Bahrami, Reyhaneh Mohsenzadeh-Yazdi, Seyed Alireza Dastgheib, Maryam Aghasipour, Amirmasoud Shiri, Kamran Alijanpour, Fatemeh Asadian, Kazem Aghili, Mohammad Manzourolhojeh, Hossein Neamatzadeh","doi":"10.1080/13816810.2024.2336964","DOIUrl":"https://doi.org/10.1080/13816810.2024.2336964","url":null,"abstract":"The study aimed to investigate the association of IL-6 and IL-10 polymorphisms with susceptibility to glaucoma by analyzing all relevant individual studies.Relevant articles were gathered from PubM...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140591463","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}
BRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic...
{"title":"Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases","authors":"Elisa Marziali, Samuela Landini, Erika Fiorentini, Camilla Rocca, Lucia Tiberi, Rosangela Artuso, Laila Zaroili, Elia Dirupo, Pina Fortunato, Sara Bargiacchi, Roberto Caputo, Giacomo Maria Bacci","doi":"10.1080/13816810.2024.2337879","DOIUrl":"https://doi.org/10.1080/13816810.2024.2337879","url":null,"abstract":"BRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140591827","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}
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