Ophthalmic Genetics最新文献_第7页

Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome. 一名与 JAG1 相关的 alagille 综合征患者的黄斑萎缩和局灶性脉络膜挖掘。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-03-25 DOI: 10.1080/13816810.2024.2303786

Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno, Gerardo Ledesma-Gil

{"title":"Macular atrophy and focal choroidal excavation in a patient with JAG1- 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":"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.","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}

引用次数: 0

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder. 对 10 名 PEX1 介导的泽尔维格谱系障碍患者眼科检查结果的系统研究。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-25 DOI: 10.1080/13816810.2024.2330389

J. Karuntu, F. Klouwer, Marc Engelen, C. J. F. Boon

{"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}

引用次数: 0

Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria 同型胱氨酸尿症患者的视觉功能、眼部特征和视觉生活质量

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-17 DOI: 10.1080/13816810.2024.2339959

Aran Koye, Mattias Nilsson, David Epstein, Mikael Oscarson, Kristina Teär Fahnehjelm

引用次数: 0

Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study 常染色体隐性遗传阿尔波特综合征患儿的角膜内皮细胞形态：一项纵向研究

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-15 DOI: 10.1080/13816810.2024.2337882

Ayna Sariyeva Ismayilov, Okan Akaci

引用次数: 0

PRPS1-associated retinopathy: a diagnostic odyssey PRPS1 相关视网膜病变：诊断奥德赛

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-15 DOI: 10.1080/13816810.2024.2321871

Tariq A. Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad

引用次数: 0

Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis IL-6和IL-10多态性与青光眼发病关系的数据整合：一项荟萃分析

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-11 DOI: 10.1080/13816810.2024.2336964

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

引用次数: 0

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases 拓宽超罕见 BRPF1 变体的眼部表型谱：两个病例的报告

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-08 DOI: 10.1080/13816810.2024.2337879

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

引用次数: 0

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa. 非综合征视网膜色素变性患者的 RHO 基因突变分析。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-29 DOI: 10.1080/13816810.2023.2294843

Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Yang

{"title":"Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.","authors":"Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Yang","doi":"10.1080/13816810.2023.2294843","DOIUrl":"10.1080/13816810.2023.2294843","url":null,"abstract":"Purpose: To identify RHO mutations in patients with non-syndromic retinitis pigmentosa (NS-RP).Methods: A total of 143 probands (46 family history and 97 sporadic cases) with NS-RP were recruited from Southeast China. The coding exons and adjacent intronic regions of RHO were PCR-amplified and sequenced by Sanger sequencing. The candidate variant was evaluated by the guidelines of American College of Medical Genetics and further validated through co-segregation analysis within the family.Results: Five heterozygous mutations in RHO were detected in 5 out of 143 probands, where the frequency of RHO mutations in our cohort was approximately 3.5% (5/143) and 10.8% (5/46) for probands and families with NS-RP, respectively. Three known disease-causing mutations including c.C1030T (p.Q344X), c.C173G (p.T58R), and c.G266A (p.G89D) were identified in three unrelated families. The other two previously unreported mutations c.557C>A (p.S186X) and c.944delA (p.N315TfsX43) were confirmed in Family RP-087 and Family RP-139, respectively. These mutations co-segregated with available affected individuals in each family were not observed in the unaffected family members or in the 112 unrelated controls.Conclusions: This report expands the mutational spectrum of RHO gene associated with NS-RP and demonstrates the frequency of RP RHO mutations in Southeast Chinese populations.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Floating-Harbor syndrome with chorioretinal colobomas. 浮-港综合征伴有脉络膜视网膜瘤。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2023-09-18 DOI: 10.1080/13816810.2023.2255895

Samantha Alanis, M P Blair, L M Kaufman, G Bhat, Michael J Shapiro

{"title":"Floating-Harbor syndrome with chorioretinal colobomas.","authors":"Samantha Alanis, M P Blair, L M Kaufman, G Bhat, Michael J Shapiro","doi":"10.1080/13816810.2023.2255895","DOIUrl":"10.1080/13816810.2023.2255895","url":null,"abstract":"Background: We present a case of a child with Floating-Harbor Syndrome (FHS) with bilateral chorioretinal coloboma (CC). To the best of our knowledge, this is the first case report of this association. Floating- Harbor syndrome is an extremely rare autosomal dominant genetic disorder with approximately 100 cases reported. It is characterized by a series of atypical features that include short stature with delayed bone age, low birth weight, skeletal anomalies, delayed speech development, and dysmorphic facial characteristics that typically portray a triangular face, deep-set eyes, long eyelashes, and prominent nose.Materials and methods: Our patient was examined by a pediatric ophthalmologist for the time at age of 7. Visual acuity, optical coherence tomography (OCT) and Optos imaging were collected on every visit. The patient had whole genome sequencing ordered by a pediatric geneticist to confirm Floating-Harbor syndrome.Results: We present the patient's OCT and Optos images that illustrate the location of the patient's inferior chorioretinal coloboma in both eyes. The whole genome sequencing report collected revealed a heterozygous de novo pathogenic variant in the SRCAP gene, consistent with a Floating-Harbor syndrome diagnosis in the literature.Discussion: Both genetic and systemic findings are consistent with the diagnosis of Floating-Harbor syndrome in our patient. Rubenstein-Taybi and Floating-Harbor syndrome share a similarity in molecular and physical manifestations, but because of the prevalence in Rubenstein-Taybi diagnoses, it is a syndromic condition that includes coloboma and frequently associated with each other. Therefore, a retinal exam should become part of the standard protocol for those with FHS, as proper diagnosis, examination and treatment can prevent irreversible retinal damage.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10362051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy. 一名小男孩罕见的库伦-德弗里斯综合征眼底表现。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2023-08-02 DOI: 10.1080/13816810.2023.2237573

Hamad Alomairah, Abdullah Ali, Rabeah Altemaimi, Talal Alabduljalil

{"title":"Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy.","authors":"Hamad Alomairah, Abdullah Ali, Rabeah Altemaimi, Talal Alabduljalil","doi":"10.1080/13816810.2023.2237573","DOIUrl":"10.1080/13816810.2023.2237573","url":null,"abstract":"Introduction: Koleen-De Vries syndrome (KDVS) is a rare genetic condition characterized by typical facial features, intellectual disability, cardiac and renal diseases, and ophthalmic manifestations. The syndrome is known to be caused by a microdeletion in the 17q21.31 region, involving multiple genes, including the KANSL1 gene.Case presentation: We present the case of a 9-year-old boy with no family history of ophthalmic syndromes. The patient exhibited bilateral hypopigmented iris and unilateral choroidal and retinal pigment epithelium (RPE) hypopigmentation.Discussion: The presence of ophthalmic manifestations, such as bilateral hypopigmented iris and unilateral choroidal and RPE hypopigmentation, in a patient with KDVS adds to the clinical spectrum of this syndrome. Although the exact mechanism underlying these ocular findings is not yet fully understood, the microdeletion in the 17q21.31 region, which includes the KANSL1 gene, is likely to play a role.Conclusion: This case highlights the importance of considering ophthalmic manifestations in individuals diagnosed with Koleen-De Vries syndrome. Further research is needed to better understand the pathogenesis and clinical implications of these ocular findings.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9911353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0