Documenta Ophthalmologica最新文献_第6页

Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis. 儿科不完全x连锁CSNB的新型CACNA1F致病变异：整合便携式ERG和遗传分析。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2025-02-01 Epub Date: 2024-12-09 DOI: 10.1007/s10633-024-09998-3

Lijin Wen, Yuwen Liu, Zhengwei Yang, Shuping Mei, Yijing Xin, Shiying Li

{"title":"Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.","authors":"Lijin Wen, Yuwen Liu, Zhengwei Yang, Shuping Mei, Yijing Xin, Shiying Li","doi":"10.1007/s10633-024-09998-3","DOIUrl":"10.1007/s10633-024-09998-3","url":null,"abstract":"Purpose: To report a novel hemizygous nonsense variant in the CACNA1F gene associated with congenital stationary night blindness (CSNB) in a pediatric patient, emphasizing the utility of portable electroretinography (ERG) and genetic testing in diagnosing unexplained visual impairments.Methods: The patient, a 5-year-old male, underwent comprehensive clinical evaluation, including detailed anterior segment and fundus examinations, full-field electroretinogram (ffERG) using a RETeval™ portable device, and whole exome sequencing (WES) to elucidate the genetic basis of his visual impairment. Structural modeling of the mutated protein was performed using SWISS-MODEL and PYMOL.Results: Best-corrected visual acuity was 0.4 logMAR bilaterally, with unremarkable anterior segment and fundus examinations. FFERG revealed significant abnormalities consistent with incomplete CSNB: severely reduced rod response in dark-adapted (DA) 0.01, negative waveform with b/a wave ratio < 1.0 in DA 3.0, and diminished cone response in light-adapted ERG. WES identified a novel pathogenic variant in the CACNA1F gene (c.1234G > T, p.E412*), inherited maternally. This variant introduces a premature stop codon at position 412, likely resulting in a truncated CACNA1F protein.Conclusions: This case highlights the importance of comprehensive clinical assessments and genetic testing in pediatric patients with unexplained visual impairments, revealing a novel CACNA1F variant that expands our understanding of CSNB. The use of a portable ERG device proved particularly valuable in assessing retinal function in this young patient. Further investigations are warranted to elucidate the clinical implications of this novel pathogenic variant.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"33-39"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799717","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

A modified analysis protocol for the PhNR test. 经修改的 PhNR 测试分析方案。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-12-01 Epub Date: 2024-10-30 DOI: 10.1007/s10633-024-09995-6

William H Ridder, Jeffrey D Farmer

{"title":"A modified analysis protocol for the PhNR test.","authors":"William H Ridder, Jeffrey D Farmer","doi":"10.1007/s10633-024-09995-6","DOIUrl":"10.1007/s10633-024-09995-6","url":null,"abstract":"Purpose: Several studies have reported that glaucoma patients have abnormal photopic negative response (PhNR) results compared to reference control subjects. The International Society for Clinical Electrophysiology of Vision (ISCEV) released an extended protocol for PhNR (I-PhNR) in 2018. The purpose of this study was to compare the I-PhNR protocol to a similar protocol modified (M-PhNR) to enhance the performance of the method in detecting glaucomatous damage.Methods: Thirty subjects were enrolled in this study (12 glaucoma patients, 10 glaucoma suspects, 8 normal controls). PhNR tests were conducted with a Diagnosys E3 mobile system (Diagnosys LLC, Lowell, MA). I-PhNR tests utilized all parameters specified by the ISCEV requirement. M-PhNR tests used the same parameters as the ISCEV tests with the exceptions of a 5-45 Hz bandpass filter and a novel, objective sweep-selection parameter. According to the ISCEV protocol, the PhNR relative to baseline (i.e., BT), a-wave and b-wave response amplitudes and BT/b-wave amplitude ratios were measured. Coefficients of variation, receiver operating characteristic (ROC) curves, and t-tests were used to assess the data from one randomly chosen eye per subject.Results: The M-PhNR protocol resulted in a decrease in the intra-subject repeat test coefficient of variation and a decrease in the average inter-subject coefficient of variation for the glaucoma subjects. The ROC curves demonstrated an increase in the area under the curve (AUC) for the M-PhNR compared to the I-PhNR protocol. The sensitivity and specificity were also greater for the M-PhNR protocol.Conclusions: The M-PhNR protocol resulted in a decrease in intra-subject and inter-subject data variability which resulted in a significant increase in the ROC AUC, sensitivity, and specificity for glaucoma. Thus, the M-PhNR protocol shows promise as a better diagnostic tool than the I-PhNR protocol for detecting glaucoma.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"151-163"},"PeriodicalIF":2.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544326","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

Documenta Ophthalmologica editorial: welcoming a broadened scope. 眼科文献》社论：欢迎扩大范围。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-12-01 Epub Date: 2024-11-25 DOI: 10.1007/s10633-024-09997-4

Daphne L McCulloch, Ruth Hamilton

引用次数: 0

An unexpected retained metallic intraocular foreign body. 眼内金属异物意外滞留。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-12-01 Epub Date: 2024-11-03 DOI: 10.1007/s10633-024-09993-8

Bangtao Yao, Yuhui Liu, Hao Yu

引用次数: 0

Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation. 一名继发于 TTC21B 基因突变的肾性视网膜病变 12- 伴发视网膜病变患者的视觉质量病例报告。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-12-01 Epub Date: 2024-11-27 DOI: 10.1007/s10633-024-09996-5

Francisco de Asís Bartol-Puyal, Beatriz Cordón, Elisa Viladés, Silvia Méndez-Martínez, Óscar Ruiz Moreno, Luis Pablo

{"title":"Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation.","authors":"Francisco de Asís Bartol-Puyal, Beatriz Cordón, Elisa Viladés, Silvia Méndez-Martínez, Óscar Ruiz Moreno, Luis Pablo","doi":"10.1007/s10633-024-09996-5","DOIUrl":"10.1007/s10633-024-09996-5","url":null,"abstract":"Introduction: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams.Clinical case: The case was a 28-year-old male with the mutations c.626C > T (p.Pro209Leu) and c.1317T > G (p.Tyr439*). Bilateral atrophy of outer retinal layers and retinal pigmented epithelium were observed, resembling a bull's eye maculopathy. Visual acuity, as well as contrast sensitivity dropped with mesopic conditions. He presented more difficulties in differentiating colors within blue-yellow range, and some degree of halos were detected. Multifocal electroretinogram detected little retinal function, and visual field detected a full scotoma. He referred poorer quality of life due to emotional wellbeing, more than to difficulties in reading or accessing information.Conclusion: Although rare, nephronophthisis 12 may be caused by genetic mutations that associate severe retinopathy.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"165-170"},"PeriodicalIF":2.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142726885","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

Screening electro-oculography protocol as a part of full-field electroretinography. 作为全场视网膜电图一部分的筛查眼电图方案。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-12-01 Epub Date: 2024-11-15 DOI: 10.1007/s10633-024-09994-7

Paula Djukanovic, Martina Jarc Vidmar, Maja Sustar Habjan

{"title":"Screening electro-oculography protocol as a part of full-field electroretinography.","authors":"Paula Djukanovic, Martina Jarc Vidmar, Maja Sustar Habjan","doi":"10.1007/s10633-024-09994-7","DOIUrl":"10.1007/s10633-024-09994-7","url":null,"abstract":"Purpose: To simplify the electro-oculography (EOG) method and integrate it into the full-field electroretinogram (ffERG) protocol for screening purposes.Methods: 20 control subjects and 5 patients with Best vitelliform macular dystrophy (BVMD) underwent EOG recording according to both the standard protocol and screening EOG protocol that was integrated as part of ffERG testing. Mean values of light peak-to-dark trough ratio (LP:DT ratio) were compared between both protocols using the Student's t-test, sensitivity and specificity for the detection of RPE dysfunction were evaluated with ROC analysis and a survey on the difficulty of each protocol was completed by each subject.Results: With the standard EOG mean LP:DT ratio was 2.67 ± 0.61 in controls and 1.12 ± 0.16 in BVMD patients (p < 0.001). With the screening protocol mean LP:DT ratio was 1.98 ± 0.33 in controls and 1.02 ± 0.14 in BVMD (p < 0.001). A comparison of LP:DT ratios showed significant difference between the standard and the screening protocol (p < 0.01 in controls; p = 0.02 in BVMD), however both protocols showed 100% sensitivity and 100% specificity for detection of BVMD. Patients stated that participation in the screening protocol was easier and less uncomfortable.Conclusions: Screening EOG performed as part of ffERG gives comparable results to standard EOG, examination is patient-friendly, time saving and can be used as a preliminary test for the assessment of RPE function.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"143-150"},"PeriodicalIF":2.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616535","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

Special issue on pupil function: trends and advances in technology and understanding and proceedings of the 34th international pupil colloquium, L V Prasad eye institute, Hyderabad, India. 瞳孔功能特刊：技术与理解的趋势和进展以及第 34 届国际瞳孔学术研讨会论文集，印度海得拉巴 L V Prasad 眼科研究所。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-11-04 DOI: 10.1007/s10633-024-09992-9

Shrikant R Bharadwaj, Peter Howarth

引用次数: 0

Vitamin A deficiency retinopathy in the setting of celiac disease and liver fibrosis. 乳糜泻和肝纤维化背景下的维生素 A 缺乏性视网膜病变。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-10-01 Epub Date: 2024-06-03 DOI: 10.1007/s10633-024-09978-7

Austin Pereira, Tom Wright, Daniel Weisbrod, Brian G Ballios

{"title":"Vitamin A deficiency retinopathy in the setting of celiac disease and liver fibrosis.","authors":"Austin Pereira, Tom Wright, Daniel Weisbrod, Brian G Ballios","doi":"10.1007/s10633-024-09978-7","DOIUrl":"10.1007/s10633-024-09978-7","url":null,"abstract":"Purpose: Vitamin A is a lipid-soluble compound that is critical in maintaining phototransduction. Ocular manifestations of hypovitaminosis A may present with anterior segment signs of xeropthalmia, with advanced cases also causing classic retinal and electrophysiologic changes of vitamin A deficiency retinopathy. We present a case of vitamin A deficiency retinopathy, with corresponding retinal imaging and electrophysiology, in an adult patient with celiac disease and liver fibrosis.Methods: A single case report was conducted in Toronto, Canada.Results: A 77-year-old male with known celiac disease and liver fibrosis presented progressively worsening vision noticed primarily when driving. Vision was 20/50 OD and 20/200 OS. Bitot spots were noted on anterior segment examination. Fundus photography demonstrated bilateral peripheral macular hypopigmentation and far-peripheral granular retinal hypopigmentation with focal yellow dots and hyper-pigmented deposits. Optical coherence tomography (OCT) imaging demonstrated indistinct outer retinal banding with mild outer nuclear layer thinning, focal hyper-reflective deposits, and a thin choroid bilaterally. Full-field electroretinography (ERG) testing demonstrated reduced rod-isolated and combined rod-cone response amplitudes, and multifocal ERG testing demonstrated blunted individual responses throughout the field. The patient was treated with pulse vitamin A therapy. After 6 months of therapy, ERG responses were back within reference range, and the outer retinal changes reversed; visual acuity improved to 20/30 OD and 20/40 OS.Conclusion: This case represents the classic findings of vitamin A deficiency retinopathy on fundus examination and electrophysiologic testing secondary to gastrointestinal pathology. Prompt treatment of high dose vitamin A supplementation led to improvement of full-field and multifocal ERG results, as well as reconstitution of outer retinal architecture.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"125-131"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199447","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

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study. 非综合征OTX2相关模式营养不良症：一项为期10年的多模态成像研究。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-10-01 Epub Date: 2024-07-18 DOI: 10.1007/s10633-024-09983-w

Prathiba Ramakrishnan, Matthew K Kenworthy, Jonathan A Alexis, Jennifer A Thompson, Tina M Lamey, Fred K Chen

{"title":"Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.","authors":"Prathiba Ramakrishnan, Matthew K Kenworthy, Jonathan A Alexis, Jennifer A Thompson, Tina M Lamey, Fred K Chen","doi":"10.1007/s10633-024-09983-w","DOIUrl":"10.1007/s10633-024-09983-w","url":null,"abstract":"Purpose: To report novel multimodal imaging features and long-term follow-up of Orthodenticle Homeobox 2 (OTX2)-associated pattern Gdystrophy.Methods: A 14-year-old boy referred with glaucoma suspect and macular pigmentation underwent fundus autofluorescence imaging, optical coherence tomography, fluorescein and indocyanine green angiography, visual field test, microperimetry and electrophysiology over a ten-year period. Next-generation sequencing panel identified a de novo heterozygous likely pathogenic OTX2 variant, c.259G>A, [p.(Glu87Lys)].Results: Visual acuity was 20/40 OD and 20/30 OS. Examination showed bilateral enlarged optic nerve heads and increased disc cupping, multiple cilioretinal arteries, a pigmentary maculopathy with stellate-shaped region of hypoautofluorescence, shallow serous macular detachment, subretinal deposits and temporal avascular retina. Angiography showed no source of leakage and absence of retinal neovascularisation despite extensive peripheral non perfusion. Electrophysiological assessments demonstrated mild progressive rod and cone pathway abnormalities, reduced light-adapted b:a ratio, and reduced Arden ratio on electro-oculogram. Ten-year follow-up confirmed a stable disease course despite persistent submacular fluid. There was no associated pituitary structural abnormality or dysfunction.Conclusions: This case study contributes to further understanding of OTX2-associated pattern dystrophy, highlighting its stability over 10 years. Further investigation into inter-individual and intrafamilial variability is warranted.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"115-123"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141632901","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

Ambient lighting alters pattern electroretinogram P50 peak time and spatial sensitivity. 环境照明会改变模式视网膜电图 P50 峰值时间和空间敏感性。

IF 2.6 4区医学

Documenta Ophthalmologica Pub Date : 2024-10-01 Epub Date: 2024-08-14 DOI: 10.1007/s10633-024-09984-9

Lisa Tucker, Oliver R Marmoy, Siân E Handley, Dorothy A Thompson

{"title":"Ambient lighting alters pattern electroretinogram P50 peak time and spatial sensitivity.","authors":"Lisa Tucker, Oliver R Marmoy, Siân E Handley, Dorothy A Thompson","doi":"10.1007/s10633-024-09984-9","DOIUrl":"10.1007/s10633-024-09984-9","url":null,"abstract":"Purpose: Our aim was to explore the effect of ambient lighting on the pattern ERG (PERG).Methods: We compared PERGs recorded in two conditions; room lights on and room lights off. PERGs from 21 adult participants were recorded from each eye to high contrast checks of 50' side width, reversing 3rps in a large (30°) and then standard (15°) field. This was performed first in lights-ON conditions, then 2 min after the room lights were switched off. A minimum of 2 averages of 300 trials were acquired for each condition. A subset of 10 participants had PERGs recorded to a 50' check width with a range of stimulus contrasts (96-18%), also to a range of different check widths (100'-12') at high contrast in both ambient lighting conditions in a 30° field.Results: The lights-ON P50 median peak time (PT) was 3 ms earlier than the lights-OFF P50 from the 30° field (range 0-5 ms) and 15° field (range 0-6 ms). The earlier lights-ON P50 PT was evident at different stimulus contrasts, even after accounting for stimulus contrast reductions associated with stray ambient lighting in lights-ON conditions. Lights-OFF and lights-ON P50 PT were similar to different check widths; the lights-OFF P50 PT to a 50' check width matched the lights-ON P50 PT to a 25' check width.Conclusion: PERG P50 PT in lights-ON ambient light conditions can be earlier than in lights-OFF ambient light conditions. The difference in P50 PT with ambient light may reflect alterations in spatial sensitivity associated with retinal adaptation. These results emphasise the clinical importance of consistent ambient lighting for PERG recording and calibration.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"77-86"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975287","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