Documenta Ophthalmologica最新文献

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Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis. 女性视网膜裂孔的分子分析揭示了x连锁视网膜裂孔的一种新的节段性单亲二体。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-22 DOI: 10.1007/s10633-025-10053-y
Nagham Maher Elbagoury, Mona Lotfi Essawi, Heba Mahmoud Fathy, Ola Mohamed Eid, Mostafa Nabih, Amal Mahmoud Mohamed, Caroline Atef Tawfik
{"title":"Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.","authors":"Nagham Maher Elbagoury, Mona Lotfi Essawi, Heba Mahmoud Fathy, Ola Mohamed Eid, Mostafa Nabih, Amal Mahmoud Mohamed, Caroline Atef Tawfik","doi":"10.1007/s10633-025-10053-y","DOIUrl":"https://doi.org/10.1007/s10633-025-10053-y","url":null,"abstract":"<p><strong>Background: </strong>Foveoschisis refers to the splitting of retinal layers involving the macula that may have different causes with variable structural-functional natural histories. Idiopathic cases are seen in the absence of inherited or acquired predisposing conditions and referred to as stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR). Our study aimed to clinically and genetically characterize females presenting with foveoschisis (including affected male siblings where present).</p><p><strong>Methods: </strong>Five patients (3 females and 2 males) from 3 consanguineous families presenting with foveoschisis underwent complete ophthalmological evaluation, multimodal imaging including color, infrared, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), electroretinogram (ERG), and molecular evaluation including Sanger sequencing of the RS1 gene and whole exome sequencing (WES). Main outcome measures were age at first visit, best-corrected visual acuity (BCVA), peripheral retinal changes, FAF pattern, ERG findings, and RS1 variants.</p><p><strong>Results: </strong>The mean age was 21.8 years. The BCVA ranged from 20/100 to 20/20. Peripheral retinal changes ranged from a tapetal reflex, peripheral retinoschisis, vitreous veils, to vitreoretinal traction. A ring of increased signal was the most common FAF abnormality, while one patient exhibited a double-ring hyperautofluorescence. All patients demonstrated an electronegative ERG. One female was considered to have a molecularly undiagnosed inherited retinal disease (IRD). Another female was considered stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) after exclusion of other causes. Three patients showed a novel nonsense variant in the RS1 gene; homozygous in the female sibling and hemizygous in the male siblings. Familial segregation revealed an unaffected father and a carrier mother. Trio SNP array confirmed maternal segmental uniparental isodisomy (seg UPiD).</p><p><strong>Conclusion: </strong>This is the first reported X-linked retinoschisis (XLRS) case with seg UPiD. We emphasize the significance of SNP arrays in elucidating non-Mendelian inheritance cases. We report a novel variant, which is the first to be detected in the RS1 domain in a female.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145344085","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
Optimizing cyclopean stimuli for the evaluation of stereo vision by steady-state visual evoked potentials. 利用稳态视觉诱发电位优化立体视觉评价的独眼刺激。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-17 DOI: 10.1007/s10633-025-10059-6
János Radó, Eszter Mikó-Baráth, Péter Hegyi, Vanda A Nemes, Gábor Jandó, Péter Buzás
{"title":"Optimizing cyclopean stimuli for the evaluation of stereo vision by steady-state visual evoked potentials.","authors":"János Radó, Eszter Mikó-Baráth, Péter Hegyi, Vanda A Nemes, Gábor Jandó, Péter Buzás","doi":"10.1007/s10633-025-10059-6","DOIUrl":"https://doi.org/10.1007/s10633-025-10059-6","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to optimize dynamic random dot correlogram (DRDC) and stereogram (DRDS) stimuli to evoke steady-state visual evoked potentials (ssVEP) on multiple EEG channels for the objective assessment of stereopsis.</p><p><strong>Methods: </strong>EEG recordings were conducted on 22 healthy adults (mean age: 30.2 ± 5.8 years) while viewing cyclopean and control stimuli. DRDC and DRDS were presented at three temporal frequencies (0.9375, 1.875, and 3.75 cycles per second, cps) using anaglyphic channel separation. The ssVEP responses were analyzed using T<sup>2</sup><sub>circ</sub> statistical test to determine the most effective stimulus for eliciting significant cortical activity.</p><p><strong>Results: </strong>DRDC at 1.875 cps evoked significant ssVEP responses in 93% of participants on at least one occipital electrode (O1, Oz, O2) and in 100% when including parietal-occipital electrodes. DRDS at similar frequencies also produced robust responses but required additional parietal electrode monitoring. Monocular control measurements confirmed that responses were stereo-specific.</p><p><strong>Conclusions: </strong>DRDC at 1.875 cps was the most effective stimulus for objective electrophysiological assessment of stereopsis, demonstrating high reliability with minimal electrode setups. These findings support the integration of optimized ssVEP protocols into clinical assessments, particularly for non-verbal or pediatric populations.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145307093","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
Dioptric blur and VEP-based visual acuity - clinical implications in resource-limited settings: correspondence. 屈光模糊和基于vep的视力-在资源有限的情况下的临床意义:对应。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-15 DOI: 10.1007/s10633-025-10057-8
Daniel Matovu
{"title":"Dioptric blur and VEP-based visual acuity - clinical implications in resource-limited settings: correspondence.","authors":"Daniel Matovu","doi":"10.1007/s10633-025-10057-8","DOIUrl":"https://doi.org/10.1007/s10633-025-10057-8","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145291630","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
Chromatic pupil campimetry as objective diagnostic tool for progressive optic neuropathies. 彩色瞳孔测量作为进行性视神经病变的客观诊断工具。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-15 DOI: 10.1007/s10633-025-10054-x
Márton Viktor Edelmayer, Torsten Strasser, Ronja Jung, Anton Sonntag, Ricarda Jendritza, Felix Tonagel, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Carina Kelbsch
{"title":"Chromatic pupil campimetry as objective diagnostic tool for progressive optic neuropathies.","authors":"Márton Viktor Edelmayer, Torsten Strasser, Ronja Jung, Anton Sonntag, Ricarda Jendritza, Felix Tonagel, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Carina Kelbsch","doi":"10.1007/s10633-025-10054-x","DOIUrl":"https://doi.org/10.1007/s10633-025-10054-x","url":null,"abstract":"<p><strong>Purpose: </strong>This study assessed the diagnostic potential of chromatic pupil campimetry (CPC) using relative maximal constriction amplitude (relMCA), pupillary light response (PLR) latency, and pupillary escape to differentiate optic neuropathies (ON) from healthy individuals and identify specific ON subtypes.</p><p><strong>Methods: </strong>CPC testing used red and blue stimuli at central (0°) and peripheral (20°) locations to measure relMCA, latency, and pupillary escape. Patients with various ON etiologies, including glaucoma (n = 20), optic nerve compression by meningioma (n = 18), chiasm compression (n = 4), Leber hereditary optic neuropathy (LHON; n = 4), and autosomal dominant optic atrophy (ADOA; n = 3), were tested. Linear mixed-effects models and post hoc Tukey tests were used to analyze differences across subgroups of ON etiologies and a healthy control group (n = 40), regarding signal eccentricities and locations.</p><p><strong>Results: </strong>Pupillary escape was significantly higher in ON patients during central red stimulation (p = 0.0007). Glaucoma and meningioma groups showed reduced relMCA and prolonged latency for both stimuli compared to controls (p < 0.0001 to p = 0.0058). RelMCA during blue stimulation was lower in glaucoma patients than in ADOA (p = 0.0183). LHON patients exhibited significantly prolonged PLR latency during blue stimulation compared to healthy (p = 0.0284).</p><p><strong>Conclusion: </strong>CPC effectively distinguished glaucoma and meningioma from healthy controls but was less reliable for differentiating ON subtypes. Our results indicate, that central pupillary escape is associated with inner retinal dysfunction.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298921","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
Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy. 由best1p .(Ser246Asn)变异引起的黄斑营养不良与糖尿病视网膜病变共存。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-06 DOI: 10.1007/s10633-025-10056-9
Yusuke Tatemoto, Takaaki Hayashi, Kei Mizobuchi, Seika Den, Tadashi Nakano
{"title":"Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.","authors":"Yusuke Tatemoto, Takaaki Hayashi, Kei Mizobuchi, Seika Den, Tadashi Nakano","doi":"10.1007/s10633-025-10056-9","DOIUrl":"https://doi.org/10.1007/s10633-025-10056-9","url":null,"abstract":"<p><strong>Purpose: </strong>To report a 42 year-old male patient with Best vitelliform macular dystrophy (BVMD) complicated by diabetic retinopathy, who harbored a missense variant in the BEST1 gene.</p><p><strong>Methods: </strong>Comprehensive ophthalmological examinations, including full-field electroretinography (ERG) and electrooculography (EOG), were performed. Whole exome sequencing (WES) was conducted to identify potential disease-causing variant(s), and Sanger sequencing was used for confirmation.</p><p><strong>Results: </strong>Fundus photography and fluorescein angiography revealed macular degeneration and non-proliferative diabetic retinopathy with macular leakage. Although the light peak/dark trough (Arden) ratio on EOG was relatively preserved, a reduced light rise and attenuated dark trough amplitudes were observed. ERG demonstrated normal rod and cone system function. Based on optical coherence tomography findings, the BVMD stage was classified as a stage between the Vitelliruptive and Atrophic stages in the right eye, and as the Pseudohypopyon stage in the left eye. WES identified a previously unreported BEST1 variant, c.737G > A: p.(Ser246Asn) heterozygously, confirmed by Sanger sequencing.</p><p><strong>Conclusions: </strong>This case emphasizes the importance of EOG assessment and genetic analysis in establishing an accurate diagnosis of BVMD, particularly in patients with coexisting conditions such as diabetic retinopathy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231873","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
Optimizing latency calculation for robust evaluation of the pupillary light response in chromatic pupillography. 彩色瞳孔成像中瞳孔光响应鲁棒性评价的优化延迟计算。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-04 DOI: 10.1007/s10633-025-10055-w
Ricarda Jendritza, Ronja Jung, Torsten Strasser, Anton Sonntag, Márton Edelmayer, Tobias Peters, Barbara Wilhelm, Helmut Wilhelm, Carina Kelbsch
{"title":"Optimizing latency calculation for robust evaluation of the pupillary light response in chromatic pupillography.","authors":"Ricarda Jendritza, Ronja Jung, Torsten Strasser, Anton Sonntag, Márton Edelmayer, Tobias Peters, Barbara Wilhelm, Helmut Wilhelm, Carina Kelbsch","doi":"10.1007/s10633-025-10055-w","DOIUrl":"https://doi.org/10.1007/s10633-025-10055-w","url":null,"abstract":"<p><strong>Purpose: </strong>To optimize latency calculation in chromatic pupillography for a more robust evaluation of pupillary light response (PLR) dynamics in a normative collective.</p><p><strong>Methods: </strong>The PLR of 150 healthy participants aged 18-79 years (median 46 years, 94 females) measured by L-cone- and rod-favoring stimulation protocols in Chromatic Pupil Campimetry (CPC) was analyzed. Three calculation methods of latency to constriction onset after light stimulus were tested. 1: intersection of mean baseline pupil diameter and linear fit through the descending part of the pupillogram (20 data points) at each stimulus position in the central visual field (30°), 2: intersection of a linear fit through the baseline and linear fit using less (15) data points through the pupillary contraction phase at each stimulus position and 3: mean per eccentricity gained by averaged pupillograms. Equivalence testing (two one-sided t-tests, TOST) was used for comparison of the methods.</p><p><strong>Results: </strong>The longest mean latencies were found with calculation 1 in both photopic and scotopic stimulation, followed by calculation 2. Latency calculation per eccentricity (3) resulted in the shortest mean latencies. The differences in latency results of the three calculation methods increased with increasing eccentricity in both stimulation protocols. Calculation 2 and 3 were equivalent up to 12° eccentricity in photopic and up to 20° eccentricity in scotopic stimulation.</p><p><strong>Conclusions: </strong>The use of the intersection of a linear fit through the baseline with a linear fit containing an adjusted number of data points adapted to the characteristics of the pupillary contraction phase appears to be suitable to provide consistent latency calculation, particularly for small constriction amplitudes and noisy data as they may occur in patients with e.g. hereditary retinal degenerations. The evaluation of mean latency per eccentricity is equivalent and may be advantageous in difficult clinical test results with low amplitudes.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145225104","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
Synthetic electroretinogram signal generation using a conditional generative adversarial network. 基于条件生成对抗网络的合成视网膜电图信号生成。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-01 Epub Date: 2025-04-16 DOI: 10.1007/s10633-025-10019-0
Mikhail Kulyabin, Aleksei Zhdanov, Irene O Lee, David H Skuse, Dorothy A Thompson, Andreas Maier, Paul A Constable
{"title":"Synthetic electroretinogram signal generation using a conditional generative adversarial network.","authors":"Mikhail Kulyabin, Aleksei Zhdanov, Irene O Lee, David H Skuse, Dorothy A Thompson, Andreas Maier, Paul A Constable","doi":"10.1007/s10633-025-10019-0","DOIUrl":"10.1007/s10633-025-10019-0","url":null,"abstract":"<p><strong>Purpose: </strong>The electroretinogram (ERG) records the functional response of the retina. In some neurological conditions, the ERG waveform may be altered and could support biomarker discovery. In heterogeneous or rare populations, where either large data sets or the availability of data may be a challenge, synthetic signals with Artificial Intelligence (AI) may help to mitigate against these factors to support classification models.</p><p><strong>Methods: </strong>This approach was tested using a publicly available dataset of real ERGs, n = 560 (ASD) and n = 498 (Control) recorded at 9 different flash strengths from n = 18 ASD (mean age 12.2 ± 2.7 years) and n = 31 Controls (mean age 11.8 ± 3.3 years) that were augmented with synthetic waveforms, generated through a Conditional Generative Adversarial Network. Two deep learning models were used to classify the groups using either the real only or combined real and synthetic ERGs. One was a Time Series Transformer (with waveforms in their original form) and the second was a Visual Transformer model utilizing images of the wavelets derived from a Continuous Wavelet Transform of the ERGs. Model performance at classifying the groups was evaluated with Balanced Accuracy (BA) as the main outcome measure.</p><p><strong>Results: </strong>The BA improved from 0.756 to 0.879 when synthetic ERGs were included across all recordings for the training of the Time Series Transformer. This model also achieved the best performance with a BA of 0.89 using real and synthetic waveforms from a single flash strength of 0.95 log cd s m<sup>-2</sup>.</p><p><strong>Conclusions: </strong>The improved performance of the deep learning models with synthetic waveforms supports the application of AI to improve group classification with ERG recordings.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"161-177"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12436495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984777","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
Early retinal electrophysiology changes in quinine overdose. 奎宁过量后早期视网膜电生理变化。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-01 Epub Date: 2025-06-17 DOI: 10.1007/s10633-025-10034-1
Stephanie Quinn, Vasileios T Papastavrou, Clare Warriner, Jill M O'Brien, Michael E Grinton, Andrew C Browning
{"title":"Early retinal electrophysiology changes in quinine overdose.","authors":"Stephanie Quinn, Vasileios T Papastavrou, Clare Warriner, Jill M O'Brien, Michael E Grinton, Andrew C Browning","doi":"10.1007/s10633-025-10034-1","DOIUrl":"10.1007/s10633-025-10034-1","url":null,"abstract":"<p><strong>Purpose: </strong>To report the early and subsequent electrophysiological findings of 2 patients following quinine overdose.</p><p><strong>Methods: </strong>Serial assessments including: Medical history, visual acuity (VA), fundus autofluorescence, spectral-domain macular optical coherence tomography (OCT) and full-field electroretinogram (ffERG) were performed on 2 patients, between 2 and 47 days after quinine overdose.</p><p><strong>Results: </strong>Both patients experienced a similar clinical course. After almost total vision loss within the first 24 h, VA dramatically improved by day 3. Early OCT changes demonstrated central macula hyperautofluorescence, which coincided with a hyperreflectivity of the macular inner retina on OCT. The initial ffERG findings demonstrated changes consistent with marked inner retinal dysfunction of the cone system, affecting both the cone ON- and OFF-bipolar cell pathways. In contrast, rod bipolar cell function was unaffected in the early phase of toxicity. Between days 10 and 17, the retinal arterioles showed narrowing which coincided with attenuation of ffERG parameters of rod system inner retinal function between days 10-40.</p><p><strong>Conclusions: </strong>These cases suggest the early stages of quinine toxicity affect function of the presynaptic cone bipolar cell junction. This is then followed by retinal arteriolar attenuation and the well described electronegative scotopic ffERG.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"179-186"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12436528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316111","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
The role of pattern electroretinogram and pattern visual-evoked potentials in ocular hypertension. 型视网膜电图和型视诱发电位在高眼压中的作用。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-01 Epub Date: 2025-08-10 DOI: 10.1007/s10633-025-10043-0
Di Zhang, Xin Xie, Tian Cheng, Taikang Yao, Yunqi Zhang, Sitong Pan, Lingge Suo
{"title":"The role of pattern electroretinogram and pattern visual-evoked potentials in ocular hypertension.","authors":"Di Zhang, Xin Xie, Tian Cheng, Taikang Yao, Yunqi Zhang, Sitong Pan, Lingge Suo","doi":"10.1007/s10633-025-10043-0","DOIUrl":"10.1007/s10633-025-10043-0","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the pattern electroretinogram (PERG) and patterned visual evoked potential (PVEP) between ocular hypertension (OHT) and normal subjects.</p><p><strong>Methods: </strong>This cross-sectional observational study included two groups: a control group (46 eyes from 23 subjects; mean age, 33.83 ± 9.10 years old) and an OHT group (34 eyes from 17 patients; mean age, 36.75 ± 11.00 years old). All OHT patients had normal visual fields and normal optic disc appearances but had elevated intraocular pressures. The PERG was recorded using counter-phasing 48' checkerboard patterns, and amplitudes and latencies of P50 and N95 were documented. The PVEP was recorded using checkerboard pattern reversal stimuli with large 60' and small 15' check sizes, and the amplitudes and latencies of the P100 peaks were documented. Group differences were compared, and receiver operating characteristic analyses were performed to evaluate the diagnostic performance of these parameters.</p><p><strong>Results: </strong>The peak latencies of P50 and N95 in the PERG were significantly prolonged in the OHT group compared to the control group (p = 0.002 and p = 0.041, respectively), while the amplitudes of P50 and N95 were significantly reduced (p < 0.001 for both). Regarding PVEP results, the P100 peak latencies for both 60' check and 15' check stimuli were significantly longer in the OHT group (p < 0.001 for both), and the P100 amplitudes were significantly lower (p = 0.001 and p = 0.017, respectively). Furthermore, the P50 and N95 amplitudes in PERG, and the P100 peak latency in PVEP, all demonstrated good diagnostic ability (AUC > 0.8, p < 0.001).</p><p><strong>Conclusion: </strong>Abnormalities in PERG and PVEP amplitudes and timing were detected in OHT patients. The P50 and N95 amplitudes in PERG, as well as the P100 peak latency in PVEP, exhibited good ability to differentiate OHT patients from normal subjects.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"123-132"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144811895","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
Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease. 视网膜变性是神经元核内包涵病患者的初始表现。
IF 2.9 4区 医学
Documenta Ophthalmologica Pub Date : 2025-10-01 Epub Date: 2025-06-14 DOI: 10.1007/s10633-025-10035-0
Shijing Wu, Ailing Sui, Qianyi Zhan, Qiuli Fu, Li Zhang
{"title":"Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.","authors":"Shijing Wu, Ailing Sui, Qianyi Zhan, Qiuli Fu, Li Zhang","doi":"10.1007/s10633-025-10035-0","DOIUrl":"10.1007/s10633-025-10035-0","url":null,"abstract":"<p><strong>Background: </strong>Neuronal intranuclear inclusion disease (NIID) is a rare autosomal dominant, progressive neurodegenerative disorder characterized by a broad spectrum of clinical conditions, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction.</p><p><strong>Case report: </strong>A 56-year-old woman presented night blindness since her youth, followed by tremors. She complained diminished vision in the left eye attributed to the presence of a macular hole. Ophthalmic examination showed obvious retinal degeneration in both eyes. Genetic testing result identified a heterozygous CGG repeat expansion in NOTCH2NLC gene. Visual acuity of left eye improved after vitrectomy.</p><p><strong>Conclusions: </strong>We reported detailed clinical features and genetic analysis of a new Chinese NIID patient who ocular symptom was the initial manifestation. And this was the first report of surgical case of a macular hole in NIID patient.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"187-193"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293504","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
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