Documenta Ophthalmologica最新文献

{"title":"Comparison of ERG signal-to-noise ratios in simultaneous recordings with skin electrodes and contact lens electrodes.","authors":"Scott E Brodie, Promie Faruque, Jorge Pincay, Mohamed Sylla, Xuan Cui, Stephanie Choi, Karen Holopigian, Vivienne Greenstein","doi":"10.1007/s10633-025-10003-8","DOIUrl":"10.1007/s10633-025-10003-8","url":null,"abstract":"<p><strong>Purpose: </strong>To compare signal-to-noise levels in ERG recordings obtained with contact lens electrodes and adhesive skin electrodes.</p><p><strong>Methods: </strong>23 subjects were studied. Full-field ERGs were recorded according to ISCEV standards simultaneously with ERG-jet corneal contact lens electrodes and LKC Technologies Sensor Strip adhesive skin electrodes. B-wave amplitude or peak-to-peak amplitude was used as a measure of signal strength. Noise was estimated using the \" ± averaging method.\" Comparisons between signal strength, absolute noise levels, and signal-to-noise ratios between contact lens and skin electrodes were performed by linear regression.</p><p><strong>Results: </strong>Comparisons of signal strength for LA 3, 30-Hz, DA 0.01, and DA 3 responses, yielded regression coefficient ß values of 0.37, 0.39, 0.39, and 0.35, respectively. For the entire data set, the regression coefficient ß value was 0.36 (95% confidence limits 0.34 - 0.38). The grand average ERG noise for all ERG stimuli was 13.8 µV for contact lens electrodes and 13.0 µV for skin electrodes (not significant: p = 0.66 for paired t-test). For signal-to-noise ratios, regression ß coefficients for contact lens and adhesive skin electrodes for LA 3, 30-Hz, DA 0.01, and DA 3 stimuli were 0.25, 0.39, 0.50, and 0.36 respectively. The ß coefficient for the amalgamated data set was 0.33 (95% confidence limits 0.30- 0.36).</p><p><strong>Conclusions: </strong>Overall ERG amplitudes obtained with skin electrodes were 1/3 those obtained with contact lens electrodes. Absolute noise levels were similar. Signal-to-noise levels with skin electrodes were 1/3 those seen with contact lens electrodes. Implications for signal-averaging in clinical applications are discussed.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"127-135"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143187592","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}

{"title":"The ERGtools2 package: a toolset for processing and analysing visual electrophysiology data.","authors":"Moritz Lindner","doi":"10.1007/s10633-025-10017-2","DOIUrl":"10.1007/s10633-025-10017-2","url":null,"abstract":"<p><strong>Purpose: </strong>To introduce ERGtools2, an open-source R package for processing, analysing and long-term storing visual electrophysiology data.</p><p><strong>Methods: </strong>A dataset comprising Electroretinogram (ERG) recordings of C57Bl/6J mice, subjected to standard ISCEV stimuli, was used to present the functionality of ERGtools2. ERGtools2 stores and organizes all recordings, metadata, and measurement information from an individual examination in a single object, maintaining raw data throughout the analysis process.</p><p><strong>Results: </strong>A standard workflow is presented exemplifying how ERGtools2 can be used to efficiently import, pre-process and analyse ERG data. Following this workflow, basic ERG measurements and visualisation of a single exam as well as group statistics are obtained. Moreover, special use cases are described, including for the handling of noisy data and the storage of data in the HDF5 format to ensure long-term preservation and accessibility.</p><p><strong>Conclusions: </strong>ERGtools2 provides a comprehensive, flexible, and device-independent solution for visual electrophysiology data analysis. Its emphasis on maintaining raw data integrity, combined with advanced processing and analysis capabilities, makes it a useful tool for preclinical and clinical research applications. The open-source nature and the use of open data formats promote reproducibility and data sharing in visual neurosciences.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"169-175"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983624","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}

{"title":"A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.","authors":"Caroline Atef Tawfik, Haneen Sabry Aly, Menna Kabeel, Iman Yousri, Sara Abdallah Mohamed","doi":"10.1007/s10633-025-10018-1","DOIUrl":"10.1007/s10633-025-10018-1","url":null,"abstract":"<p><strong>Purpose: </strong>To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI).</p><p><strong>Methods: </strong>A 4-year-old male patient of consanguineous Egyptian parents, who presented with progressive visual impairment and tooth decay underwent complete ophthalmological examination, dental, and systemic examination. Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of the macula, full field electroretinogram (ffERG) were obtained. Orthopantomogram (OPG) were also obtained. NGS-based gene panel testing was done in a commercial laboratory from a peripheral blood sample.</p><p><strong>Results: </strong>Fundus examination demonstrated typical features of CORD in the form of loss of foveal reflexes with macular retinal pigment epithelial mottling and atrophy reminiscent of bull's eye maculopathy. Dental assessment revealed evidence of AI. NGS-based gene panel identified a novel mutation in CNMM4 gene c.1423 G>A consistent with a diagnosis JS, thereby confirming the rare diagnosis.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first report of Jalili syndrome in Egypt. We are reporting a novel mutation in CNMM4 gene. We are also expanding the clinical spectrum of dental manifestation by reporting early eruption of the first permanent molars and suggesting that hyperopia could be a rather constant feature of JS. This case emphasizes the importance of comprehensive multidisciplinary assessment beyond visual complaints in IRD patients in order to reach an accurate diagnosis.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"189-196"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965806","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}

{"title":"Abstracts of the 62nd annual symposium of the international society for clinical electrophysiology of vision (ISCEV 2025), Utrecht, the Netherlands.","authors":"","doi":"10.1007/s10633-025-10031-4","DOIUrl":"10.1007/s10633-025-10031-4","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"5-51"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265604","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}

{"title":"SLC37A3-associated retinitis pigmentosa: a case report of clinical features and three-year follow up.","authors":"Maximilian D Kong, Johnathan A Bailey, Abdhel Exinor, Chanakarn Piamjitchol, Aykut Demirkol, Stephen H Tsang","doi":"10.1007/s10633-025-10013-6","DOIUrl":"10.1007/s10633-025-10013-6","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of SLC37A3-associated retinitis pigmentosa (RP) and associated imaging and electroretinography findings.</p><p><strong>Methods: </strong>The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography. Functional assessments were conducted using full-field electroretinography (ERG), following the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity.</p><p><strong>Results: </strong>A 58-year-old male presented with night blindness beginning in early adulthood. Family history was positive for consanguinity. Dilated fundus exam revealed mild optic disc pallor, small perivenous hyperpigmentation greater nasally, and spared foveal islands in both eyes. FAF demonstrated a hyperautofluorescent ring around the macula in a bull's eye pattern and hypoautofluorescent lesions along the arcades and nasally. ERG results supported a diagnosis of rod-cone dystrophy. Initial genetic panel testing and whole exome sequencing were inconclusive, but whole genome sequencing identified homozygous mutations in the SLC37A3 gene.</p><p><strong>Discussion: </strong>This report expands upon the sparse clinical data on SLC37A3-associated RP and supports the observation that a nasal predominance of retinal pigment may be a distinguishing clinical feature. Additionally, this case underscores the diagnostic value of whole-genome sequencing, especially when initial targeted genetic panels or whole-exome sequencing yield negative results. The metabolic role of SLC37A3, potentially linked to intracellular glucose transport, suggests a novel pathway in RP pathogenesis that warrants further study. Advances in gene-specific natural history characterization will be critical as gene-targeted therapies evolve, particularly for rare genetic forms of RP such as this case.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"177-182"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604282","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}

{"title":"Response: Aflibercept for the treatment of pigmentary retinopathy in Kearns-Sayre Syndrome?","authors":"Vannessa Leung, James Wong, John R Grigg","doi":"10.1007/s10633-025-10023-4","DOIUrl":"10.1007/s10633-025-10023-4","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"199-200"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110219","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}

{"title":"Brief report: harmonic analysis of the 30 Hz flicker ERG in early-stage diabetic retinopathy.","authors":"J Jason McAnany, Jason C Park","doi":"10.1007/s10633-025-10030-5","DOIUrl":"10.1007/s10633-025-10030-5","url":null,"abstract":"<p><strong>Purpose: </strong>To determine if harmonic components of the 30 Hz flicker ERG are useful for detecting neural dysfunction in diabetics who have mild or no non-proliferative diabetic retinopathy (NPDR).</p><p><strong>Methods: </strong>Previously reported light-adapted flicker ERG data recorded from 20 diabetics who had no clinically-apparent retinopathy (NDR), 20 who had mild NPDR (MDR), and 20 non-diabetic controls were reanalyzed. From this dataset, the amplitude and phase of the 31.25 Hz flicker ERG fundamental and second harmonic were extracted. The 62.5 Hz flicker ERG fundamental was also extracted. Similar responses were also acquired prospectively from 10 controls, 5 NDR, and 5 MDR subjects, comprising a second dataset.</p><p><strong>Results: </strong>Analysis of variance indicated that both diabetic groups had normal amplitudes elicited by the 31.25 Hz stimulus (fundamental and second harmonic), whereas the 62.5 Hz amplitude was reduced significantly in both diabetic groups. This pattern was found in both the retrospective and prospective analyses.</p><p><strong>Conclusions: </strong>The second harmonic of the 31.25 Hz flicker response (equivalent to 62.5 Hz) was normal in early-stage DR, whereas the response to 62.5 Hz flicker stimuli was abnormal. The second harmonic of the ISCEV standard 30 Hz flicker ERG does not appear to be a useful indicator of neural dysfunction in early DR.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12270084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191632","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}

{"title":"Macular retinal function after autologous retinal transplantation in patients with refractory macular holes.","authors":"Rei Arasaki, Tatsuya Inoue, Hiroko Terasaki, Shinji Ueno, Kazushige Tsunoda, Jun Takeuchi, Shohei Kitahata, Yasuo Yanagi, Maiko Maruyama-Inoue, Kazuaki Kadonosono","doi":"10.1007/s10633-025-10024-3","DOIUrl":"https://doi.org/10.1007/s10633-025-10024-3","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate subjective and objective macular retinal function and morphology in eyes after autologous retinal transplantation (ART).</p><p><strong>Methods: </strong>We conducted the study in three patients with large macular holes (MHs) who underwent ART. The examination modalities included optical coherence tomography (OCT), microperimetry (MP-3), and focal macular electroretinography (FMERG) with 10-degree and 5-degree stimulus spots under infrared camera monitoring centered on the treated MHs after ART.</p><p><strong>Results: </strong>All three patients showed improved visual acuity after the ART; MP-3 showed relatively good sensitivity around the fixation point with a dense scotoma at the center of the graft. All MHs were closed with autologous grafts and the size of MHs was decreased. OCT revealed clearly visible ellipsoid zones of the host retina around the grafted retina, however one transplanted eye showed disorganized outer layer of the host retina near the border of graft-host retina. FMERGs with the 10-degree stimulus were recorded successfully in all three treated eyes with more than half of a- and b-wave amplitudes of the fellow eyes. FMERGs with the 5-degree stimulus were recorded successfully in two of the treated and their fellow eyes.</p><p><strong>Conclusions: </strong>The FMERGs showed well-maintained macular retinal function after ART. The electrophysiologic and anatomic outcomes suggested that the host retina around the transplanted retina may play an important role in the postoperative macular retinal function with the mechanical support by the graft.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143982672","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}

{"title":"Relationship between fasted insulin levels and mfERG implicit times in patients with type 2 diabetes and prediabetes.","authors":"Jennyffer D Smith, Rachel Redfern, Liam Burhans, Theodore W Zderic, Marc T Hamilton, Wendy W Harrison","doi":"10.1007/s10633-025-10004-7","DOIUrl":"10.1007/s10633-025-10004-7","url":null,"abstract":"<p><strong>Purpose: </strong>It is established that the mfERG is altered in type 2 diabetes (T2DM). The P1 implicit time (IT) becomes delayed even before retinopathy is present. This has been associated with the duration of damage to retinal cells from hyperglycemia. However, patients withT2DM and prediabetes also have changes in insulin values. The impact of elevated or reduced blood insulin on retinal function using mfERG has not been explored. Here we evaluate the the relationship between blood insulin levels and mfERG parameters in patients with and without T2DM and prediabetes.</p><p><strong>Methods: </strong>66 subjects (age 50.4 ± 10.5) were included in this cross-sectional study. Subjects were asked if fasted upon presentation. HbA1c was taken and used to categorize subjects into groups as controls (< 5.7%), prediabetes (5.7-6.4%) or T2DM (> 6.4% or previously diagnosed). Insulin was collected from finger stick and was analyzed via ELISA. A mfERG (103 hexagons) was performed (VERIS 6.3) with 4-min m-sequence at near 100% contrast. Data was evaluated for ring hexagons, as well as averaged together for P1 IT. No subjects had retinopathy or were taking exogenous insulin. Data were evaluated through ANOVA for comparisons of groups and as well as with multivariate regression analysis.</p><p><strong>Results: </strong>There was a strong positive correlation between fasting blood glucose and mfERG IT (P < 0.002) in all subjects. There was also a negative relationship between averaged mfERG IT and fasted blood insulin concentration (P = 0.035) after age, T2DM duration and blood glucose were controlled for in a multivariate regression. There was a significant difference in mfERG IT between the groups (p = 0.008) with T2DM exhibiting the longest IT, but no difference between controls and prediabetes. There was no difference in insulin levels between groups, nor were there any significant relationships between insulin and mfERG IT for those who were not fasted.</p><p><strong>Conclusions: </strong>Reduced blood insulin is associated with IT delays under overnight fasted conditions, which suggests a lack of insulin may impair retinal function. Future work should examine these associations of retinal function with insulin under well controlled and standardized postprandial conditions such as during oral glucose tolerance testing.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"65-72"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448461","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}

{"title":"ISCEV standard full-field ERG reference limits from 407 healthy subjects, derived from transference and validation of reference data between electrode types and centres.","authors":"Rebecca A Baker, Shaun M Leo, William I N Clowes, Isabelle Chow, Xiaofan Jiang, Anne L Georgiou, Antonio Calcagni, Christopher J Hammond, Magella M Neveu, Omar A Mahroo, Anthony G Robson","doi":"10.1007/s10633-025-10009-2","DOIUrl":"10.1007/s10633-025-10009-2","url":null,"abstract":"<p><strong>Purpose: </strong>To establish age-adjusted reference intervals for the ISCEV standard full-field electroretinogram (ERG) recorded with silver thread electrodes in the lower fornix, based on a combined reference sample involving recordings from reference subjects and transference of data between two centres and two types of electrode.</p><p><strong>Methods: </strong>Silver thread lower fornix ERG reference data from two centres underwent verification for inclusion in the reference sample (n = 251). Comparison analysis was performed to determine whether gold foil reference data could be included in the silver thread reference range, directly or with adjustment. Reference subjects and patients underwent ERG testing with both silver thread and gold foil electrodes (n = 53) and skin electrodes (n = 41). A linear model, fitted to the electrode comparison data, was used to transform gold foil ERG reference data for inclusion in the reference sample (n = 156). The combined sample of 407 reference individuals was used to derive age-adjusted reference limits for the main DA 0.01, DA 3, DA 10, LA 30 Hz and LA 3 ERG components.</p><p><strong>Results: </strong>Silver thread ERG reference data was sufficiently similar across two centres to justify combination into a single reference sample. Peak times for gold foil and silver thread ERGs were closely comparable (r² 0.75-0.98, Bland-Altman bias ≤ 1.6 ms for all ERG components), with LA 30 Hz peak time showing the highest agreement (bias: - 0.2 ms, 95% limits of agreement (LOA): - 1.1 to 0.7 ms, 'silver thread-gold foil'). There was a clinically significant amplitude difference between electrode types: silver thread ERGs were 55-65% of the amplitude of gold foil ERGs (LOA ranged from 29 to 90%) and skin ERGs were 35-38% of the amplitude of silver thread ERGs (LOA ranged from 18 to 54%). Pooled reference data formed a sufficient sample covering 8 decades, from which age-adjusted parametric and nonparametric reference limits were calculated with reference to current guidelines.</p><p><strong>Conclusions: </strong>ISCEV standard silver thread ERG data were consistent across the two centres, allowing transference of reference data. Reference data recorded with gold foil electrodes can be transformed for inclusion in a silver thread ERG reference range. The study highlights methods of pooling multiple sources of reference data into a larger, more robust sample, pertinent to standardization, clinical management, and multi-centre studies. These reference data could be adopted by other centres or combined with other datasets, following suitable verification.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"47-64"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11991937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751580","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}