Ophthalmic Genetics最新文献_第10页

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":" ","pages":"147-152"},"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":" ","pages":"207-209"},"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":" ","pages":"164-166"},"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

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature. 生物素酶缺乏症的眼部表现：一例病例报告和文献综述。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-17 DOI: 10.1080/13816810.2023.2296921

Fatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, Maryam Kachuei, Arzhang Gordiz, Sara Hemmati, Parvaneh Karimzadeh

{"title":"Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.","authors":"Fatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, Maryam Kachuei, Arzhang Gordiz, Sara Hemmati, Parvaneh Karimzadeh","doi":"10.1080/13816810.2023.2296921","DOIUrl":"10.1080/13816810.2023.2296921","url":null,"abstract":"Introduction: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases.Methods: In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient.Results: Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD.Conclusion: In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"120-125"},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139486148","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

Female carrier of RPGR mutation presenting with high myopia. 女性 RPGR 基因突变携带者出现高度近视。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2023-07-25 DOI: 10.1080/13816810.2023.2237571

Aikaterini K Seliniotaki, Athina Ververi, Stavrenia Koukoula, Georgios Efstathiou, Spyridon Gerou, Nikolaos Ziakas, Asimina Mataftsi

{"title":"Female carrier of RPGR mutation presenting with high myopia.","authors":"Aikaterini K Seliniotaki, Athina Ververi, Stavrenia Koukoula, Georgios Efstathiou, Spyridon Gerou, Nikolaos Ziakas, Asimina Mataftsi","doi":"10.1080/13816810.2023.2237571","DOIUrl":"10.1080/13816810.2023.2237571","url":null,"abstract":"Background: Inherited retinopathies can initially present with high refractive error in the first decade of life, before accompanying signs or symptoms are evident.Case presentation: A 4-year-old girl with high myopia (S-12.00 C-4.00 × 20 in the right and S-14.50 C-2.75 × 160 in the left eye), moderate visual acuity (0.3 logMAR in the right and 0.4 logMAR in the left eye), and left esotropia, presented with unremarkable past medical history and no family history of high refractive error or low vision. In optical coherence tomography imaging, macular thinning was evident, while morphology was normal. Full-field electroretinogram revealed normal implicit time recordings with reduced amplitudes in scotopic and photopic conditions. Fundus autofluorescence showed a radial pattern in both eyes. During a 5-year follow-up, significant myopia progression ensued (S-17.25 C-3.00 × 20 in the right and S-17.25 C-2.00 × 160 in the left eye), with a corresponding increase in axial length and an unchanged visual acuity. Whole-exome sequencing revealed a heterozygous termination codon variant c.212C>G (p.Ser71Ter) in RPGR, considered to be pathogenic. Segregation analysis precluded the variation in the mother and sister. A random pattern of X-chromosome inactivation was detected in the proband, without X-chromosome inactivation deviation.Conclusion: This is the second report associating this specific RPGR mutation with high myopia and the first report to identify it in a female proband. This case provides additional evidence on the genotypic-phenotypic correlation between RPGR c.212C>G mutation and high myopia.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"159-163"},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223703","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

ABCA4 variant screening in a Turkish cohort with Stargardt disease. 在患有斯塔加特病的土耳其队列中进行 ABCA4 变异筛选。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-18 DOI: 10.1080/13816810.2024.2313490

Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar, Yusuf Özkul

{"title":"ABCA4 variant screening in a Turkish cohort with Stargardt disease.","authors":"Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar, Yusuf Özkul","doi":"10.1080/13816810.2024.2313490","DOIUrl":"10.1080/13816810.2024.2313490","url":null,"abstract":"Purpose: This study aims to evaluate the ABCA4 variants in patients diagnosed with Stargardt disease.Methods: This is a retrospective study designed to investigate variants in the ABCA4 in Stargardt disease and the clinical findings of the cases. Sex, age, age of onset of symptoms, best-corrected visual acuity, color fundus photography, optical coherence tomography, and visual field test of the patients were recorded. Genetic analyses were screened, and patients with at least two variants in the ABCA4 were included in this study.Results: Twenty-seven patients diagnosed with Stargardt disease with the ABCA4 variants were included in this study. Twelve of them (44.4%) were female and fifteen (55.5%) were male. The mean age of the cases was 27.44 years (ranging from 8 to 56 years). Thirty different variants were detected in 54 ABCA4 alleles of 27 patients. The two most common pathogenic variants were c.5882 G>A p.(Gly1961Glu) and c.52C>T p.(Arg18Trp) in this cohort. Two novel variants were identified (c.3855_3856dup, c.1554 + 3_1554 + 4del) and the patient with the c.1554 + 3_1554 + 4del variant additionally had a different ABCA4 variant in trans. The other novel variant was homozygous.Conclusions: In this study, two novel variants were described in a Turkish cohort with Stargardt disease. The variant c.52C>T p.(Arg18Trp) was the most common disease-causing variant besides the c.5882 G>A p.(Gly1961Glu) which was identified frequently in the previous studies. A larger sample size is necessary for describing different pathogenic variants and understanding the phenotype-genotype correlations.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"133-139"},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139900297","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