Ophthalmic Genetics最新文献_第4页

Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient. 关于一名女性患者出现视网膜营养不良、严重震颤和共济失调的 X 连锁 PRPS1 基因新变异的病例报告。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-16 DOI: 10.1080/13816810.2024.2388598

Richard N Sather, Caroline Brown, Sandra R Montezuma

引用次数: 0

A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunction. CABP4 中的一种新型同卵无义变体会导致静止锥体/杆突触功能障碍。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-15 DOI: 10.1080/13816810.2024.2371875

Blake M Hauser, Emily Place, Rachel Huckfeldt, Demetrios G Vavvas

{"title":"A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunction.","authors":"Blake M Hauser, Emily Place, Rachel Huckfeldt, Demetrios G Vavvas","doi":"10.1080/13816810.2024.2371875","DOIUrl":"https://doi.org/10.1080/13816810.2024.2371875","url":null,"abstract":"Introduction: Variants in the CABP4 gene cause a phenotype to be included in the spectrum of congenital stationary night blindness, though some reports suggest that the clinical abnormalities are more accurately categorized as a synaptic disease of the cones and rods. We report a novel homozygous nonsense variant in CABP4 in a patient complaining of non-progressive reduced visual acuity and photophobia but not nyctalopia.Methods: Complete ocular examination, fundus photographs, autofluorescence, optical coherence tomography, electroretinography, and targeted sequencing of known inherited retinal disease-associated genes.Results: A 25-year-old man monitored for 13 years complains of a lifelong history of stable reduced visual acuity (20/150), impaired color vision (1 of 14 plates), small-amplitude nystagmus, and photophobia without nyctalopia. He is also hyperopic (+7D), and his electroretinography shows significantly reduced rod and cone responses. Targeted genetic analysis revealed a novel homozygous variant in the CABP4 gene at c.181C>T, p. (Gln61*) underlying his clinical presentation.Conclusions: A novel variant in CABP4 is associated with stationary cone and rod dysfunction resulting in decreased acuity, color deficit, and photophobia, but not nyctalopia.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988547","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

Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma. 非黑色素瘤皮肤癌与假性外叶性青光眼缺乏遗传关联。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-15 DOI: 10.1080/13816810.2024.2390008

Alice A Beneke, Jon D Wiese, Kevin T Root, Kamil Taneja, Casey J Beal

{"title":"Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma.","authors":"Alice A Beneke, Jon D Wiese, Kevin T Root, Kamil Taneja, Casey J Beal","doi":"10.1080/13816810.2024.2390008","DOIUrl":"https://doi.org/10.1080/13816810.2024.2390008","url":null,"abstract":"Background: Prior research has shown a positive association of pseudoexfoliative glaucoma (PXG) in patients with non-melanoma skin cancer (NMSC), likely due to an increase in ultraviolet exposure associated with both. However, the role of NMSC as a genetic risk factor for PXG has not been examined. Thus, the goal of this study is to utilize Mendelian randomization with genome-wide association studies to evaluate for genetic causality while controlling for environmental confounders.Methods: We conducted a MR using the inverse variance weighted method (MR-IVW) as our primary analysis. Genomic data was sourced from GWASs for patients with NMSC (10,382 cases, 208,410 controls) and PXG (1,515 cases and 210,201 controls), originating from the FinnGen Biobank.Results: Despite previous association of history of NMSC with occurrence of PXG, we found no evidence for a causal association between SNPs associated with NMSC and risk of PXG following MR analysis (MR-IVW, odds ratio (OR): 0.98, 95% CI: 0.85-1.14, P = 0.87).Conclusion: Here, we found no evidence for a causal association between SNPs associated with NMSC and the risk of PXG following a MR analysis.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988549","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

Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy. 在一名患有脊髓小脑共济失调 14 型和黄斑营养不良症的患者体内发现新的杂合 PRPH2 变异。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-02-29 DOI: 10.1080/13816810.2024.2321883

Tugche S Chen, Narin Sheri, David S Ehmann, Matthew D Benson

{"title":"Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.","authors":"Tugche S Chen, Narin Sheri, David S Ehmann, Matthew D Benson","doi":"10.1080/13816810.2024.2321883","DOIUrl":"10.1080/13816810.2024.2321883","url":null,"abstract":"Purpose: To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel PRPH2 variant.Methods: Case report.Results: A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macular dystrophy. She had no history of using medications with recognized toxic macular effects. Subsequent genetic testing confirmed a novel heterozygous missense variant of unknown significance in PRPH2 (PRPH2: c.694 G>A, p.(Ala232Thr)).Conclusions: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139990831","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

Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes. 两个具有不同复合杂合子 CYP1B1 基因型的兄弟姐妹患有原发性先天性青光眼。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-03-07 DOI: 10.1080/13816810.2024.2324044

Alexandra Ruiz Guijosa, Laura Morales Fernández, José María Martínez de la Casa, Julio Escribano, Julián García Feijoo

{"title":"Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.","authors":"Alexandra Ruiz Guijosa, Laura Morales Fernández, José María Martínez de la Casa, Julio Escribano, Julián García Feijoo","doi":"10.1080/13816810.2024.2324044","DOIUrl":"10.1080/13816810.2024.2324044","url":null,"abstract":"Objective: To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings.Materials and methods: Two sisters diagnosed at birth with bilateral PCG, whose father had bilateral PCG and mother had bilateral microphthalmus, were subjected to a familial genetic study and ophthalmologic follow-up including intraocular pressure (IOP) measurement, and collection of biometric and cup-to-disc ratio data.Results: The inheritance pattern was autosomal recessive in compound heterozygosis. The sisters were found to be carriers of three pathogenic allele variants of the CYP1B1 gene: c.317C>A (p.Ala106Asp) and c.1345delG (p.Asp449MetfsTer8) in one patient (10 years) and c.1345delG (p.Asp449MetfsTer8) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter) in her older sister (12 years). Surgical histories included: three goniotomies and two Ahmed valves in each eye, and two trabeculectomies and a pupilloplasty in the right eye in the 10-year old; and one goniotomy, trabeculectomy and three Ahmed valves in each eye in the older sister. Currently, both sisters have a controlled intraocular pressure of 18-20 mmHg in both eyes. The father is blind in both eyes and carries two variants c.317C>A (p.Ala106Asp) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter). The mother with a single variant c.1345delG (p.Asp440MetfsTer8) has a prosthetic right eye and microphthalmus left eye.Conclusions: The sisters were found to show two different allelic CYP1B1 variants (compound heterozygosis) with different repercussions on the clinical severity of PCG. These findings highlight the importance of genetic screening of affected families.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049992","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

Variant in EZR leads to defects in lens development. EZR 变异导致晶状体发育缺陷。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-04-02 DOI: 10.1080/13816810.2024.2330391

Nan Zhou, Mingyan He, Guangkai Zhou, Qiuyang Fan, Yanhua Qi

引用次数: 0

A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma. 一个土耳其幼年型开角型青光眼家族中的新型 LTBP2 基因变异。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-04-01 DOI: 10.1080/13816810.2024.2331540

Banu Bozkurt, Ozkan Bağcı, Sema Üzüm, Tülin Çora

{"title":"A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.","authors":"Banu Bozkurt, Ozkan Bağcı, Sema Üzüm, Tülin Çora","doi":"10.1080/13816810.2024.2331540","DOIUrl":"10.1080/13816810.2024.2331540","url":null,"abstract":"Background: Juvenile-onset open-angle glaucoma (JOAG) is a rare form of primary open-angle glaucoma (POAG) with an early age of onset before 40 years. Latent transforming growth factor-beta binding protein 2 (LTBP-2) is an extracellular matrix protein with a multi-domain structure and homology to fibrillins. LTBP2 gene variants have been associated with JOAG in a small number of patients. Herein, we report a novel missense variant in the LTBP2 gene in a Turkish family with JOAG.Materials and methods: Blood samples were obtained from three siblings (a 20-year-old woman with JOAG, 26-year-old man with JOAG, and 15-year-old girl with posterior embryotoxon) for genetic analysis. Their father had moderate-severe POAG and the 24-year-old brother had JOAG. The mother and 32-year-old sister were healthy. Although the parents reported no consanguinity, they come from the same village.Results: Clinical exome sequencing analysis of the two siblings with JOAG revealed a novel c.607C>T p.(R203C) (rs777450651) homozygous LTBP2 variant, while the variant was heterozygous in their 15-year-old sister. There were no mutations in the MYOC, CYP1B1, or FBN1 genes.Conclusion: We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140336371","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

Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele. M285R KCNV2 低常等位基因个体的结构和功能特征。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-03-08 DOI: 10.1080/13816810.2024.2324046

Thales A C de Guimaraes, Francesco Lai, Raffaella Colombatti, Giovanni Sato, Roberta Rizzo, Angelos Kalitzeos, Michel Michaelides

{"title":"Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.","authors":"Thales A C de Guimaraes, Francesco Lai, Raffaella Colombatti, Giovanni Sato, Roberta Rizzo, Angelos Kalitzeos, Michel Michaelides","doi":"10.1080/13816810.2024.2324046","DOIUrl":"10.1080/13816810.2024.2324046","url":null,"abstract":"Background: Disease-causing variants in the KCNV2 gene are associated with \"cone dystrophy with supernormal rod responses,\" a rare autosomal recessive retinal dystrophy. There is no previous report of hypomorphic variants in the disease.Material and methods: Medical history, genetic testing, ocular examination, high-resolution retinal imaging including adaptive optics scanning light ophthalmoscopy (AOSLO), and functional assessments.Results: A 16-year-old male with mild cone-rod dystrophy presented with reduced central vision and photophobia. Genetic testing showed two variants in KCNV2, c.614_617dupAGCG (p.207AlafsTer166) and c.854T>G (p.Met285Arg), the latter which was previously considered benign. Electrophysiological assessment revealed the pathognomic electroretinogram waveforms associated with KCNV2-retinopathy. Optical coherence tomography showed discrete focal ellipsoid zone disruption, while fundus autofluorescence was normal. Non-waveguiding cones corresponding to areas of loss of photoreceptor integrity were visible on adaptive optics scanning light ophthalmoscopy. Retinal sensitivity and fixation were relatively preserved, with a demonstrable deterioration after 14 months of follow-up.Conclusions: We provide functional and structural evidence that the variant M285R is disease-causing if associated with a loss-of-function variant. To the best of our knowledge, this is the first hypomorphic allele reported in KCNV2.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140060124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

GAPO syndrome: a novel variant in ANTXR1 gene. GAPO综合征：ANTXR1基因的一种新型变异。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-05-01 DOI: 10.1080/13816810.2024.2345879

Manikanta Damagatla, Anshuman Verma, Venkatesh Pochaboina, Manju Bhate, Sirisha Senthil

{"title":"GAPO syndrome: a novel variant in ANTXR1 gene.","authors":"Manikanta Damagatla, Anshuman Verma, Venkatesh Pochaboina, Manju Bhate, Sirisha Senthil","doi":"10.1080/13816810.2024.2345879","DOIUrl":"10.1080/13816810.2024.2345879","url":null,"abstract":"Background: GAPO syndrome is a rare autosomal recessive disorder characterized by the acronym of growth retardation, alopecia, pseudo-anodontia and progressive optic atrophy. While the genetic alteration of the ANTXR1 gene has been known for its cause, the full range of its clinical and genetic manifestations is not well explored due to the syndrome's extreme rarity.Materials/methods: We report two children born to a non-consanguineous parent in India with classical features of GAPO syndrome. The whole exome sequencing analysis (WES) was performed in both siblings, and the parent's genetic and clinical status was determined. The identified variation was characterized in silico using homology-based protein modelling.Results: In WES analysis, a homozygous ANTXR1 gene indel variant c. 151_152 + 2delAAGT (p.Lys51fs) was identified in both siblings. The parents were identified as the carriers of the ANTXR1 variant. Additionally, they also displayed mild GAPO-related facial and glaucomatous features. In silico analysis and homology-based ANTXR1 protein structure illustrate a frameshift and the subsequent premature truncation of the protein.Conclusions: Our reports contribute to the comprehension of GAPO syndrome within the Indian context describing an ANTXR1 novel variant causing premature protein truncation. WES-based genetic testing can significantly aid in expertly diagnosing GAPO syndrome. In the present case scenario, a variable penetrance of ANTXR1 variation was acknowledged as the carrier parents also had a mild degree of GAPO-related features. Future reports that include parental clinical diagnosis can offer further insights in this context.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867840","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

Biallelic occult macular dystrophy. 双隐性黄斑营养不良症。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-06-04 DOI: 10.1080/13816810.2024.2352376

Noor Ghali, Arif O Khan

{"title":"Biallelic occult macular dystrophy.","authors":"Noor Ghali, Arif O Khan","doi":"10.1080/13816810.2024.2352376","DOIUrl":"10.1080/13816810.2024.2352376","url":null,"abstract":"Purpose: Occult macular dystrophy (OMD) is a cause of visual loss in young adults with a grossly normal fundus appearance. It is considered an autosomal dominant disorder, related to heterozygous pathogenic variants in the gene RP1L1. The purpose of this study is to report a biallelic form of the disease.Results: A 29-year-old female had undergone neurological workup and ophthalmic examinations for transient visual loss in her left eye over the past two years but there was no definitive diagnosis. The best-corrected visual acuity was 20/30, 20/20. Indirect ophthalmoscopy with a 78D lens revealed subtle central retinal pigment epithelium mottling and optical coherence tomography confirmed subtle central thickening of the ellipsoid zone. Full-field electroretinography was normal, but pattern electroretinography showed decreased p50 responses. OMD was suspected. Retinal gene panel testing was significant only for a homozygous variant in RP1L1 (NM_178857.6: c.3571 G>T; p.Glu1191*). The parents and older brother were unavailable for segregation analysis. By history they did not have visual complaints other than a need for glasses.Conclusions: This report presents the clinical and genetic findings of a biallelic form of OMD associated with a novel pathogenic variant in RP1L1. It would be of interest to carefully assess macular function in heterozygotes with this variant.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238460","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