Documenta Ophthalmologica最新文献

{"title":"Fast ERG 15 Hz flicker protocol for assessing functional changes in the rod system.","authors":"Aleksandra Czarnek-Chudzik, Giulia Righetti, Ronja Jung, Melanie Kempf, Veronica Cuevas Villanueva, Katarzyna Nowomiejska, Robert Rejdak, Eberhart Zrenner, Katarina Stingl, Krunoslav Stingl","doi":"10.1007/s10633-025-10038-x","DOIUrl":"https://doi.org/10.1007/s10633-025-10038-x","url":null,"abstract":"<p><strong>Purpose: </strong>To establish a clinically applicable dark-adapted 15 Hz flicker electroretinogram (ERG) for sensitive detection of functional changes in the fast and the slow retinal rod pathways.</p><p><strong>Methods: </strong>The study consisted of two parts. In the first part, the paradigm of the previously demonstrated \"null-effect\" of stimulus luminance on ERG-amplitudes for 15 Hz flicker stimuli with duration of 2.5 s was reexamined. In the second part an optimized faster protocol designed for routine clinical use was tested and compared with the results from the first part and data published in the past. The 15-Hz flicker ERG protocol included 12 steps with different intensities ranging from 0.00019 scot cd.s/m² to 0.05 scot cd.s/m² and was obtained from 15 normally sighted subjects. Stimulus flashes were presented in blue (448 nm) and white, alternating in each luminance step after 20 min of dark adaptation. A shorter version containing only 7 steps was selected with intensities ranging from 0.00031 scot cd.s/m² to 0.005 scot cd.s/m². Additionally, the stimulus paradigm included noise measurement to properly estimate the signal-to-noise ratio.</p><p><strong>Results: </strong>The results from the first protocol showed a U-shaped amplitude vs. luminance response curve at 15 Hz, consistent with previously published results. Using the new, shortened protocol, we also obtained similar results, but with a much shorter recording time. Based on the signal-to-noise ratio from these measurements a reliable measurement can be obtained in only 2.5 min which presents a considerable time reduction necessary to record a 15 Hz response curve in a clinical setup.</p><p><strong>Conclusion: </strong>The new protocol is suitable for integration into a daily clinical environment, offering short and well-balanced protocols to address complex retinal network interactions.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728575","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":"Documenta Ophthalmologica Editorial: Focus on paediatrics.","authors":"Daphne L McCulloch","doi":"10.1007/s10633-025-10041-2","DOIUrl":"https://doi.org/10.1007/s10633-025-10041-2","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144697781","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 mesopic negative response (MeNR): a novel approach to assess retinal ganglion cell function within the rod pathway.","authors":"J Jason McAnany, Jason C Park, Pablo Barrionuevo, Dhara Shah, Thasarat Sutabutr Vajaranant, Ahmad A Aref, Deepak P Edward, Robert A Hyde","doi":"10.1007/s10633-025-10040-3","DOIUrl":"https://doi.org/10.1007/s10633-025-10040-3","url":null,"abstract":"<p><strong>Purpose: </strong>The photopic negative response (PhNR) and pattern ERG, both established electrophysiological measures of retinal ganglion cell (RGC) function, are recorded under photopic conditions. The purpose of this study was to describe the mesopic negative response (MeNR), a novel marker of RGC function within the rod pathway.</p><p><strong>Methods: </strong>Ten visually-normal controls (mean age ± SD 54.6 ± 5.6 years) and 12 patients with severe primary open-angle glaucoma (mean age ± SD 58.4 ± 4.9 years) participated. Light-adapted, full-field ERGs were elicited by a rod-isolating pulse generated on the principle of silent substitution (0.46 scot. cd/m²; 55% contrast; 40 ms) presented against a steady background (0.30 scot. cd/m²). In addition, (1) the PhNR was recorded; (2) subjects were dark-adapted for 20 min and the ISCEV DA 0.01 was recorded.</p><p><strong>Results: </strong>The normal rod-isolated pulse response was characterized by a positive potential at 85 ms followed by a slow negative potential (MeNR) at 175 ms following the pulse. The mean (± SEM) amplitude of the positive potential was similar for the control (13.4 ± 1.2 µV) and glaucoma (11.6 ± 1.35 µV) groups (p = 0.33), and was correlated with the DA 0.01 amplitude (r = 0.71, p < 0.001). The amplitude of the MeNR was significantly (p < 0.001) attenuated for the glaucoma group (4.5 ± 0.7 µV) compared to the controls (9.7 ± 1.25 µV), and was correlated with the PhNR amplitude (r = 0.86, p < 0.001).</p><p><strong>Conclusions: </strong>Rod-isolated ERGs can be obtained without dark-adaptation using silent-substitution. The positive potential and MeNR of the rod-isolated response appear to be generated by rod bipolar cells and RGCs, respectively. In severe glaucoma, the positive (bipolar cell) potential was not significantly affected, whereas the MeNR was significantly reduced. MeNR analysis may be useful for studying RGC function within the rod pathway.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599655","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":"Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant.","authors":"Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Mari Yoshikawa, Junko Hanaya, Tadashi Nakano","doi":"10.1007/s10633-025-10039-w","DOIUrl":"https://doi.org/10.1007/s10633-025-10039-w","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of hereditary spherocytosis (HS) carrying a pathogenic variant in the SPTB gene, presenting with angioid streaks (ASs) and central retinal dysfunction.</p><p><strong>Methods: </strong>A 63-year-old female patient diagnosed with HS was evaluated using multimodal imaging, full-field and multifocal electroretinograms (ffERGs and MfERGs), and genetic testing with an HS gene panel.</p><p><strong>Results: </strong>Her best-corrected visual acuity was Snellen equivalent 20/22 in the right eye and 20/20 in the left eye. Fundus examination revealed ASs with chorioretinal atrophy around the optic discs in both eyes (OU). Fundus autofluorescence imaging showed areas of autofluorescence loss corresponding to ASs and chorioretinal atrophy. In the ffERGs, dark-adapted (DA) 0.01 b-wave amplitudes and DA 3.0/10.0 a-wave amplitudes were nearly normal, but b-wave amplitudes were slightly reduced in OU. Meanwhile, light-adapted (LA) 3.0 a- and b-wave amplitudes, as well as the LA 30 Hz flicker amplitudes, were slightly reduced. The mfERG trace arrays showed amplitude reductions, particularly in the central to temporal regions in OU. Genetic testing identified a heterozygous splice-site variant (c.4973 + 5G > A) in SPTB (NM_001355436.2), classified as likely pathogenic.</p><p><strong>Conclusions: </strong>This is the first reported case of an HS patient with ASs associated with an SPTB variant, exhibiting mild cone system dysfunction accompanied by central retinal dysfunction.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590674","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":"Detecting congenital chiasmal misrouting using multichannel VEPs: protocol for a scoping review.","authors":"Giulia Steuernagel Del Valle, Haipha Ali, John R Grigg, Ruth Hamilton, Michael B Hoffmann, Bruce Hudson, Wanda L Pfeifer, Dorothy A Thompson, Anupreet Tumber, Ajoy Vincent, Gerard C de Wit","doi":"10.1007/s10633-025-10036-z","DOIUrl":"https://doi.org/10.1007/s10633-025-10036-z","url":null,"abstract":"<p><strong>Objective: </strong>We present the protocol of a prospective scoping review which aims to understand how multi-channel visual evoked potentials (mcVEPs) are used to investigate congenital chiasmal misrouting and what outcomes are measured, interpreted and reported.</p><p><strong>Introduction: </strong>mcVEPs are used for the objective evaluation of chiasmal misrouting, which is characterized by a crossed asymmetry in the distribution of cortical responses over each hemisphere during monocular stimulation, and is often observed in patients with albinism. The application and analysis of mcVEPs varies across centers, creating a need to explore the range of practice regarding their conduct and reporting and to identify potential areas for adaptation or optimization or guidelines for specific populations.</p><p><strong>Inclusion criteria: </strong>Peer reviewed and grey literature on the use of mcVEP to detect chiasmal misrouting in humans with non-acquired pathologies will be considered. All literature providing details of mcVEP methodology for replication and specification of chiasmal misrouting will be included for review.</p><p><strong>Methods: </strong>Searches will be conducted using MEDLINE, Embase, Cochrane and Web of Science with the expertise of a librarian. The search will be conducted with no limitation on time period, but will be restricted to the Latin alphabet. Titles and abstracts will be screened by two investigators with conflicts resolved by a third investigator. Included articles will proceed with data extraction on study details including methodology, design, and outcomes. The results will be synthesized and mapped for logical understanding.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526809","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":"Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.","authors":"Yue Liu, Hui Li, Xing Wei, Yamei Li, Yunyu Zhou, Xuan Zou, Ruifang Sui","doi":"10.1007/s10633-025-10037-y","DOIUrl":"10.1007/s10633-025-10037-y","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the retinal phenotype and genetic features of a Chinese family with a diagnosis of mitochondrial myopathy and ataxia (MMYAT).</p><p><strong>Methods: </strong>We conducted a 17-year follow-up of two sisters from a Chinese family and reviewed their medical and family histories. The retinal phenotype was assessed using a multi-modal imaging technique, which includes ultra-widefield (UWF) scanning laser ophthalmoscope (SLO), UWF fundus autofluorescence (FAF), and optical coherence tomography (OCT). Whole exome sequencing (WES) was performed to detect pathogenic variants. Sanger sequencing validation and segregation analysis were further performed for the confirmation of genetic results. A literature review was conducted, analysing the data from 11 published articles encompassing 33 confirmed cases of MMYAT up to 2025.</p><p><strong>Results: </strong>Ophthalmic multimodal imaging examination revealed typical characteristics of retinal dystrophy in both patients, including binocular widespread salt-and-pepper pigmentation, macular atrophy, a mottled pattern of hypoautofluorescence, and degeneration of the ellipsoid zone. A comprehensive review of the patients' histories identified muscle weakness, ataxia, cerebellar atrophy, mild cognitive impairment, and developmental delay. Two compound heterozygous variants of the mitochondrial distribution and morphology regulator 1 (MSTO1) gene (NM_018116.3), c.971C > T (p.T324I) and c.1108G > A (p.A370P), were detected using WES. A comprehensive literature review was also conducted to gain an overview of the various symptoms associated with MMYAT.</p><p><strong>Conclusion: </strong>Our study provides a comprehensive ophthalmic characterization of MMYAT, indicating that retinal dystrophy is a key characteristic of this disease. Multimodal imaging of the retina is beneficial for diagnosing MMYAT-associated retinal dystrophy. Increased awareness and comprehensive ophthalmic examination are crucial for obtaining an early and accurate diagnosis.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144339934","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":"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":"https://doi.org/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":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Author index for the 2025 ISCEV symposium abstracts.","authors":"","doi":"10.1007/s10633-025-10032-3","DOIUrl":"https://doi.org/10.1007/s10633-025-10032-3","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301349","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":"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":"https://doi.org/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":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-14","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}

{"title":"Nystagmus characteristics and their impact on pattern-reversal VEP in patients with albinism.","authors":"Herman E Talsma, Gerard C de Wit, Charlotte C Kruijt, Stefan H L Zwerver, Maria M van Genderen","doi":"10.1007/s10633-025-10026-1","DOIUrl":"https://doi.org/10.1007/s10633-025-10026-1","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the association between nystagmus characteristics and pattern-reversal VEP (prVEP) P100 amplitude and peak time in patients with albinism.</p><p><strong>Methods: </strong>We analyzed the prVEP (60' and 15' checksize) and nystagmus recordings from 47 patients with albinism, 17 with a relatively good visual acuity (≤ 0.3 logMAR), and 30 with a relatively poor visual acuity (≥ 0.6 logMAR). The nystagmus waveforms were classified into two types: dominantly pendular and dominantly jerk. We correlated the nystagmus type, amplitude, frequency, and percentage of low velocity (PLOV) to P100 amplitude and peak time.</p><p><strong>Results: </strong>For most patients (87%), reproducible responses were observed for the large checks (60'). Among patients with good visual acuity, 94% had reproducible responses of which the majority (82%) of P100 amplitudes fell within the normal reference range. In contrast, although 83% of patients with poor visual acuity showed reproducible responses, only a minority (17%) of P100 amplitudes were within the normal range. The P100 amplitude to 60'check sizes was statistically correlated with PLOV (r = 0.58, p < 0.0001), nystagmus type (r = -0.55, p < 0.0001), and nystagmus amplitude (r = -0.39, p = 0.0092). Patients with relatively good visual acuity and jerk nystagmus exhibited the highest PLOV and the largest P100 amplitude (p < 0.0001). In contrast, there was no significant correlation between P100 peak time and any nystagmus parameters in patients with good or poor visual acuity.93% normal peak time. For the small checks (15'), 76% of patients with good visual acuity, still showed reproducible responses, with the majority (71%) of P100 amplitudes falling within the normal reference range. In contrast, among patients with poor visual acuity, only 3% (1 patient) showed reproducible responses, but with amplitudes below the normal range. For the patients with good visual acuity, PLOV showed a significant correlation with P100 amplitude. P100 peak time was normal for 77% (10/13) of these patients.</p><p><strong>Conclusions: </strong>For the prVEP with 60' checks, nystagmus in patients with albinism predominantly affects the P100 amplitude but not the P100 peak time. For 15' checks the amplitude is often so small that clear responses are no longer discernable, especially in patients with poor visual acuity.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207978","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}