Documenta Ophthalmologica最新文献

{"title":"ISCEV standard for clinical visual evoked potentials (2025 update).","authors":"M Šuštar Habjan, M Bach, M M van Genderen, S Li, A Mizota, J Nilsson, D A Thompson, A G Robson","doi":"10.1007/s10633-025-10042-1","DOIUrl":"10.1007/s10633-025-10042-1","url":null,"abstract":"<p><p>Visual evoked potentials (VEPs) are electrophysiologic responses to pattern or flash stimuli, recorded over the occiput. VEPs can provide information regarding the function of the visual system and are valuable in the diagnosis and investigation of optic nerve disease or post-retinal visual pathway dysfunction. The ISCEV VEP Standard specifies stimulus and recording conditions for three basic types of recording: (1) Pattern-reversal VEPs elicited by checkerboard stimuli with large 1° (degree) and small 0.25° check widths. (2) Pattern onset/offset VEPs elicited by checkerboard stimuli with large 1° and small 0.25° check widths. (3) Flash VEPs elicited by a flash which subtends a visual field of at least 20°. The ISCEV VEP Standard protocols are defined for a single recording channel with a midline occipital active electrode. Multi-channel VEPs for evaluation of chiasmal and post-chiasmal lesions, together with protocols specific for pediatric populations, are also described in this document as non-standardized additions. The main changes in the updated ISCEV Standard for clinical VEP include an option to perform a simultaneous pattern electroretinogram (PERG) and pattern-reversal VEP recording, a revised definition of the origin and the analysis of the most prominent VEP components, and more precise descriptions of non-standard multi-channel and pediatric VEP recordings, intended to encourage convergence of widely used non-standard methods. These changes aim to provide a clinically relevant document about current practice which will facilitate good quality recordings and inter-laboratory comparisons.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"97-112"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12436483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946208","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":"Dioptric blur is not fully reflected by VEP-based visual acuity estimates.","authors":"Dillys A D Amega, Julia Haldina, Ingrid Toews, Heiko Philippin, Michael B Hoffmann, Enyam K A Morny, Sven P Heinrich","doi":"10.1007/s10633-025-10044-z","DOIUrl":"10.1007/s10633-025-10044-z","url":null,"abstract":"<p><strong>Purpose: </strong>Objective estimation of visual acuity (VA) based on visual evoked potentials (VEPs) has become an established technique for cases where psychophysical VA might be unreliable. Refractive errors and improper accommodation could undesirably affect the outcome of VA measurements. Consequently, it is of interest whether a VA reduction due to dioptric blur is reflected by VEP-based estimation of VA.</p><p><strong>Methods: </strong>We degraded vision in 19 participants to nearly 1.0 logMAR by using either plus lenses or a filter that creates Gaussian blur. For both types of degradation, we compared the outcomes of objective VEP-based VA testing to standard psychophysical VA. For comparison, we also obtained psychophysical grating VA.</p><p><strong>Results: </strong>With Gaussian blur, both values, VEP-based VA and psychophysical Landolt-C VA, were nearly identical. With dioptric blur, VEP-based VA was better than psychophysical Landolt-C VA in all participants by an average of 0.37 logMAR with some interindividual variability. Psychophysical grating VA was only relatively mildly affected by blur with no sizable differential effect of blur type.</p><p><strong>Conclusion: </strong>VEP-based estimation of VA does not reveal the full amount of VA reduction in the case of dioptric blur. On the one hand, this decreases VEP-based methods' susceptibility to incorrect refraction and mis-accommodation, which are not normally the targeted causes of VA reduction. On the other hand, it reduces the accuracy in quantifying refraction-related impairments of vision with VEPs.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"113-121"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12436536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759444","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":"The consequence of modulating background on the luminance-response function of the human photopic electroretinogram.","authors":"Jan Kremers, Cord Huchzermeyer, Avinash J Aher","doi":"10.1007/s10633-025-10029-y","DOIUrl":"10.1007/s10633-025-10029-y","url":null,"abstract":"<p><strong>Purpose: </strong>To study the consequences of a modulating background on the luminance-response function of the human photopic flash electroretinogram for different relative timings of the flash relative to the background luminance.</p><p><strong>Methods: </strong>Seven healthy subjects (age: 29-63 years; four females) participated in the study. We measured the response to flashes (9 flash strengths in total between 0.12 and 29.76 cd.s/m² while doubling the strength at each step; 5 ms flash duration) on a steady background (24 cd/m²) and on a 1 Hz modulating background (24 cd/m² mean luminance; 100% contrast). The flashes were presented at 6 different phases during the sine wave (0°, 90°, 180°, 225°, 270°, and 315°). Responses to a 1 Hz sinusoidally modulating stimulus were subtracted from the responses to the combined flash plus sine-wave stimuli to obtain the flash ERGs at different phases.</p><p><strong>Results: </strong>The a-wave and PhNR amplitudes monotonically increased with increasing flash strength. The b- and i-wave amplitudes displayed a maximum at 1.9 cd.s/m², above which they decreased again (the so-called \"Photopic hill effect\"). The responses could be described by an addition of a logistic growth and a Gaussian. The parameters of these functions depended on the time of flash presentation relative to the background. The dependency of the a-, b- and i-wave on flash presentation time with constant flash strength could be described by a model that assumes that the amplitude depends on the Weber fraction of the flash including a delay and a saturation.</p><p><strong>Conclusions: </strong>The use of modulating backgrounds may increase the signal-to-noise ratio of flash ERGs and thus its diagnostic value. The dynamics of the response as a function of flash presentation time gives additional information about the retinal processing of flash and background. The photopic hill model allows the separation of processing in retinal On- and Off-pathways.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"145-160"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12436525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191643","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":"Inter-session repeatability of electroretinography and visual evoked potentials of the Celeris system.","authors":"Xiuying Tang, Carla J Abbott, Penelope J Allen, Chi D Luu","doi":"10.1007/s10633-025-10045-y","DOIUrl":"10.1007/s10633-025-10045-y","url":null,"abstract":"<p><strong>Purpose: </strong>The Celeris system (Diagnosys LLC) offers a streamlined alternative to the gold-standard Espion system for high-throughput electroretinography (ERG) and visual evoked potentials (VEP) in preclinical studies. This study evaluated its inter-session repeatability of ERG and VEP measurements in healthy rodent retinae.</p><p><strong>Methods: </strong>Twenty-five wild type Brown Norway rats underwent ERG and VEP testing across two sessions. Dark-adapted ERG a- and b-waves (flash stimulus of 10 cd s/m²), and the photopic negative response (PhNR) (flash stimulus of 3 cd s/m²) were recorded. VEPs (flash stimulus of 3 cd s/m²) were recorded from implanted screw electrodes in the skull. Pearson's correlation coefficient (ρ), Bland-Altman with 95% limits of agreement (LOA) and a novel cumulative distribution plot were used to assess inter-session agreement.</p><p><strong>Results: </strong>Intersession dark-adapted a-wave showed a correlation of ρ = 0.73, (P < 0.0001), LOA: -106.4 to 113.9 µV, and 90% of measurements fell within - 24.8 to 58.0% variation (90% range). Intersession dark-adapted b-wave amplitudes showed ρ = 0.65, (P < 0.001), LOA: - 402.5 to 437.4 µV, and 90% range: - 33.7 to 72.6%. Inter-session PhNR-B (base-to-trough) and PhNR-P (peak-to-trough) amplitudes showed ρ = 0.66 and 0.72 respectively; LOA: - 26.7 to 31.1 µV and - 98.9 to 100.1 µV respectively; 90% ranges: - 58.2 to 59.3%, and - 45.6 to 60.9%, respectively. Inter-session VEP P2 amplitude showed ρ = 0.67, (P < 0.001), LOA: 78.5-72.8 µV, and 90% range: - 52.2 to 67.9%. Inter-session VEP implicit time showed ρ = 0.48, (P < 0.05), LOA: - 39.4 to 38.3 ms, and 90% range: - 39.2% to 16.7%.</p><p><strong>Conclusion: </strong>The study reported the inter-session repeatability of the ERG and VEP tests using the Celeris system. These data facilitate the study design and sample size calculation for future preclinical studies using the Celeris, and serve as a reference for future comparison with other systems, protocols and species.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"133-143"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12436515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144811880","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 unilateral presentation of pigmented paravenous chorioretinal atrophy: a case report.","authors":"Hadeel Seraj, Shaima K Alharazi, Enas S Magharbil, Hani B Albalawi, Naif M Alali, Moustafa S Magliyah","doi":"10.1007/s10633-025-10052-z","DOIUrl":"https://doi.org/10.1007/s10633-025-10052-z","url":null,"abstract":"<p><strong>Purpose: </strong>This case report aims to describe an atypical presentation of pigmented paravenous chorioretinopathy (PPCRA).</p><p><strong>Methods: </strong>Detailed clinical ophthalmologic examinations, multimodal imaging and electroretinography of a 33-year-old woman who presented with unilateral PPCRA.</p><p><strong>Results: </strong>A 33-year-old female who is known to have hypothyroidism and had previous bariatric surgery, referred for retinal evaluation following incidental findings during a refractive surgery consultation. Fundus examination revealed unilateral segmental perivascular hyperpigmentation, vascular sclerosis, and areas of chorioretinal atrophy, raising the differential diagnosis of pigmented paravenous chorioretinopathy (PPCRA) versus resolved retinal vasculitis. The patient reported no significant ocular symptoms apart from decreased night vision in one eye and denied a history of acute visual loss or photophobia. Systemic workup, including autoimmune and infectious serologies, imaging, and a detailed clinical history, was unremarkable. The patient reported consanguinity within the family.</p><p><strong>Conclusion: </strong>This report underscores the challenge of distinguishing PPCRA, a rare, typically bilateral hereditary condition, from resolved vasculitis, which often presents unilaterally with a history of systemic inflammation. Fluorescein angiography and optical coherence tomography were instrumental in identifying the lack of active inflammation and vascular leakage, favoring the diagnosis of PPCRA.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191344","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":"Effects of flickering light stimulation on retinal blood flow and full-field electroretinogram in mice.","authors":"Milan Rai, Yamunadevi Lakshmanan, Kai Yip Choi, Henry Ho-Lung Chan","doi":"10.1007/s10633-025-10049-8","DOIUrl":"https://doi.org/10.1007/s10633-025-10049-8","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the effects of brief flickering light stimulation (FLS) on retinal electrophysiology and retinal blood flow (RBF) in normal C57BL6J mice.</p><p><strong>Methods: </strong>RBF and full-field electroretinography (ffERG) were measured before and after a 60 second FLS (12 Hz, 0.1 cd·s/m²) in a cohort of 8-12-weeks old C57BL6J mice (n=10) under anaesthetic and light-adapted conditions. A separate set of age-matched mice (n=9) underwent RBF and ffERG measurements before and after steady light stimulation (SLS) at 1 cd/m² under similar conditions. The changes in RBF (arterial and venous flow) as well as the amplitudes and implicit times of the a-wave, b-wave, oscillatory potentials (OPs), and photopic negative response (PhNR) were analyzed.</p><p><strong>Results: </strong>FLS significantly increased both arterial (p=0.003) and venous (p=0.018) blood flow as well as b-wave amplitudes (p=0.017) compared to SLS, which did not have any significant changes in either RBF or ERG. However, no significant differences were found in other ffERG responses (amplitudes and implicit times of a-wave, OPs, and PhNR, as well as b-wave implicit time) between the two groups after light stimulation. An increase in b-wave amplitude was positively associated with an increase in both arterial (r=0.655, p=0.040) and venous blood flow (r=0.638, p=0.047) in the FLS group.</p><p><strong>Conclusions: </strong>Our results suggest that transient FLS not only increases RBF but also enhances electro-retinal responses of the middle retinal layer, as shown by ffERG, thus demonstrating its substantial effects on both the vascular and neuronal components of retinal neurovascular coupling in mice.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145136256","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":"An in-depth characterization of development-related electroretinographical and morphological changes in Landrace pigs.","authors":"Lea Skrzypczyk, Bryan Calder Ackermann, Victor Aristide Augustin, Ulrike Rahn, Philipp Uhl, Gerd Uwe Auffarth, Maximilian Hammer","doi":"10.1007/s10633-025-10050-1","DOIUrl":"https://doi.org/10.1007/s10633-025-10050-1","url":null,"abstract":"<p><strong>Purpose: </strong>Landrace pigs are increasingly used as a large-animal model in ophthalmic research due to their cone-enriched visual streak and anatomical similarity to the human eye. However, they are commonly studied at 16-20 weeks of age, a timeframe in which the animals double their weight and development-related physiological changes may occur. This study aims to characterize retinal function and morphology and establish reference values for future translational studies.</p><p><strong>Methods: </strong>Landrace pigs (16-20 weeks old) underwent standardized examinations of the left eye at baseline (16 weeks), 18 and 20 weeks. The left eye was examined by optical coherence tomography (OCT), fundus photography, histology, and full-field electroretinography (ffERG) under light- and dark-adapted conditions, using the ISCEV-compliant 6-step Dog, Cat, Nonhuman Primate protocol.</p><p><strong>Results: </strong>A total of 30 animals were included. Retinal morphology remained stable throughout the study period, with no significant changes in retinal thickness observed by OCT (baseline: 252 ± 24 µm; week 20: 249 ± 11 µm; p = 0.17) or by histology. ffERG revealed increased amplitudes under light- and dark-adapted conditions at 20 weeks compared to baseline at 16 weeks of age (e.g. light-adapted b-wave: + 65 µV, + 18.4%, p < 0.01), while latencies remained stable without clinically relevant changes.</p><p><strong>Conclusions: </strong>During this phase of rapid development, Landrace pigs undergo significant functional retinal maturation without corresponding morphological changes emphasizing importance of functional testing in retinal assessments. This study provides reference data in a large number of animals.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145136913","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":"Comparative analysis of pupillometry in two scheimpflug-based measurement systems.","authors":"Kursat Atalay, Ibrahim Kocak, Nihat Sayin, Muhammed Ali Sanliturk, Sibel Zirtiloglu","doi":"10.1007/s10633-025-10048-9","DOIUrl":"https://doi.org/10.1007/s10633-025-10048-9","url":null,"abstract":"<p><strong>Objective: </strong>The primary aim of this study was to compare pupillometry measurements obtained from the Sirius™ and AL-Scan™ devices under different lighting conditions. Additionally, the secondary aim was to assess and compare the topographic (keratometric) measurements provided by these systems.</p><p><strong>Materials and methods: </strong>A non-interventional and prospective study was conducted on normal patients aged 18-45 years. Patients who did not smoke and had a spherical equivalent ranging from + 3.00 D to - 5.0 were included. Pupillometry measurements were taken after 1 minute of dark adaptation. Only the right eyes were compared for keratometry. All eyes were compared for pupillometry. We compared the K1 (D), K2 (D), KAvg (D), photopic pupillometry (PP), and mesopic pupillometry (MP) values.</p><p><strong>Results: </strong>We examined a total of 30 women (66.7%) and 15 men (33.3%). AL Scan showed an average K1 of 42.99 ± 1.50 D, an average K2 of 44.04 ± 1.74, and an average Kavg of 43.58 ± 1.62. Sirius topography yielded the following averages: 42.94 ± 1.51 for K1, 43.90 ± 1.75 for K2, and 43.41 ± 1.61 for Kavg. The average PP and MP measures obtained with the Nidek Al-Scan instrument were 3.97 ± 1.08 mm and 6.04 ± 1.08 mm, respectively. The Sirus device yielded average PP and MP values of 5.05 ± 1.04 mm and 6.01 ± 1.08 mm, respectively. Bland-Altman statistics showed a good degree of correlation between the MP measurements of both devices (p = 0.65). However, K1, K2, KAvg, and PP data showed no significant agreement between both devices (p < 0.05).</p><p><strong>Conclusion: </strong>In our research, Sirius and Nidek Al-Scan equipment yield comparable MP data; however, PP is inconsistent. Device selection with repeated pupillometry data requires more investigation.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052191","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":"Bilateral multiple retinal pigment epithelial detachments.","authors":"Arisa Yoshida, Masayuki Shibuya, Yoshiaki Shimada, Yuro Igawa, Midori Tachibana, Kei Shinoda","doi":"10.1007/s10633-025-10046-x","DOIUrl":"https://doi.org/10.1007/s10633-025-10046-x","url":null,"abstract":"<p><strong>Purpose: </strong>To report a rare case of bilateral idiopathic multifocal retinal pigment epithelial detachments (imfPEDs) and to describe the long-term morphological and functional changes observed over a 16-year follow-up period.</p><p><strong>Methods: </strong>A 49-year-old woman was diagnosed with imfPEDs based on multimodal imaging, including optical coherence tomography (OCT), fluorescein angiography (FA), and fundus photography. Full-field electroretinograms (ffERGs) and multifocal ERGs (mfERGs) were recorded to assess retinal function. The patient voluntarily discontinued follow-up but returned 16 years later due to cataract progression. Retinal morphology and function were re-evaluated using comparable multimodal imaging and electrophysiological methods.</p><p><strong>Results: </strong>At the initial visit, multiple bilateral pigment epithelial detachments (PEDs) were identified. OCT showed hyporeflective, dome-shaped PEDs with smooth borders, and ERG responses were within normal limits. Sixteen years later, some PEDs had resolved, others had newly developed or fused, and geographic atrophy was observed, particularly in the peripheral retina. Fundus autofluorescence (FAF), performed in place of FA, revealed hyperautofluorescent PEDs and numerous peripheral hypofluorescent spots. ffERGs remained normal, while mfERGs showed localized attenuation with relatively preserved macular function. These findings were consistent with large colloid drusen and cuticular drusen.</p><p><strong>Conclusion: </strong>This case demonstrates the slow morphological progression and relative functional preservation in bilateral imfPEDs over 16 years. Comparable multimodal imaging and electrophysiological testing were valuable in monitoring the long-term clinical course and support the classification of this phenotype as a variant of large colloid or cuticular drusen.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144999921","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":"Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.","authors":"Vasily Smirnov, Claire-Marie Dhaenens, Vincent Canel, Sabine Defoort-Dhellemmes","doi":"10.1007/s10633-025-10047-w","DOIUrl":"https://doi.org/10.1007/s10633-025-10047-w","url":null,"abstract":"<p><strong>Introduction: </strong>Retinal dysfunction associated with CACNA2D4 gene defects is a rare disorder of photoreceptor to bipolar cell signaling. We report two affected siblings presenting a surprising disparity of retinal involvement.</p><p><strong>Materials and methods: </strong>Patients underwent complete ocular examination, multimodal fundus imaging, and full-field electroretinography (ffERG). Genetic testing was performed by a targeted Next Generation Sequencing panel.</p><p><strong>Results: </strong>Two siblings presented a reduced visual acuity and light sensitivity. ffERG was specific for CACNA2D4-related retinal dysfunction, but amplitudes of responses were different in the two patients. Additionally, an x-wave to a dim red flash was well preserved, and there was a reduced b/a ratio to a high intensity (30cd/m2) dark-adapted stimulus. Both patients were homozygous for the variant c.2406C > A, p.(Tyr802*) in CACNA2D4. During 17 years of follow-up, vision remained stable in patient 1, with no evidence of retinal degeneration.</p><p><strong>Conclusion: </strong>Intrafamily clinical and electrophysiological expression of CACNA2D4-associated retinal dysfunction can be variable.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946266","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}