Documenta Ophthalmologica最新文献

{"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":"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":"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":"CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.","authors":"Jonathan A Alexis, Prathiba Ramakrishnan, Matthew K Kenworthy, Jennifer A Thompson, Enid S Chelva, Fred K Chen","doi":"10.1007/s10633-025-10027-0","DOIUrl":"https://doi.org/10.1007/s10633-025-10027-0","url":null,"abstract":"<p><strong>Purpose: </strong>To describe multimodal imaging and electrophysiology features of CTNNA1-associated retinal dystrophy in a family with p.(Leu318Ser) substitution.</p><p><strong>Methods: </strong>Three family members including a 48-year-old male proband, his 52-year-old sister, and their 67-year-old mother, were evaluated with multimodal imaging and electrophysiology. The proband, referred with suspected Best's disease, underwent a retinal dystrophy panel and two affected family members were target sequenced for the familial variant.</p><p><strong>Results: </strong>The NM_001903.5:c.953T > C variant in CTNNA1 segregated with affected family members. They maintained a visual acuity of 20/25 or better throughout 2-4 years of follow-up. The proband exhibited butterfly-shaped pigment dystrophy whilst his sister had no macular lesions, and their mother had foveal pigmentary changes. All three displayed peripheral retinal reticular pigmentation with variable atrophy. Microperimetry demonstrated enlarging paracentral scotoma in the proband whilst Esterman binocular suprathreshold test showed reproducible peripheral loss in the proband's sister. Multifocal electroretinography (ERG) confirmed central macular dysfunction in the proband. In all three, full-field ERG showed mildly delayed dark-adapted (DA) 0.01 b-wave and DA3.0 a-wave, and a light-rise of < 1.7 in one or both eyes on electro-oculography (EOG).</p><p><strong>Conclusions: </strong>CTNNA1-associated retinal dystrophy due to p.(Leu318Ser) has a unique peripheral retinal phenotype despite variable macular involvement. Reduced EOG light-rise and peripheral reticular pigmentation should raise suspicion of CTNNA1 in butterfly-shaped pigment dystrophy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198463","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":"Evaluating the repeatability of the multifocal electroretinogram in the cone dominant 13-lined ground squirrel.","authors":"Nicole Manfredonia, Hannah M Follett, Phyllis Summerfelt, James A Kuchenbecker, Joseph Carroll, Ching Tzu Yu","doi":"10.1007/s10633-025-10010-9","DOIUrl":"10.1007/s10633-025-10010-9","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the repeatability of the multifocal electroretinogram (mfERG) in the 13-lined ground squirrel (13-LGS).</p><p><strong>Methods: </strong>13-LGS (Ictidomys tridecemlineatus, 2 M/4F, n = 12 eyes) were equally divided between 61-segment or 103-segment protocols containing two consecutive mfERG scans per session, and two total sessions performed one week apart per eye. The trough-to-peak amplitudes were analyzed under three conditions: raw, normalized to the optic nerve head (ONH), and normalized to the visual streak (VS). For intrasession repeatability, the two consecutive scans within each session were analyzed. For intersession repeatability analyses, one scan was randomly chosen from each day.</p><p><strong>Results: </strong>Intrasession repeatability of the mfERG trough-to-peak amplitude data averaged at 63% (Raw), 55% (ONH), and 50% (VS). There was no significant difference in repeatability between each day's intrasession repeatability values for all normalization conditions (Raw: Wilcoxon t-test, p = 0.2334; ONH: Paired t-test, p = 0.7803; VS: Wilcoxon t-test, p = 0.3804). Intersession percent repeatability of mfERG trough-to-peak amplitude data averaged at 72% (Raw), 61% (ONH), and 53% (VS). There was a statistically significant difference between the groups (Friedman test, p = 0.0038). This was evident in the Benjamini-Hochberg method of controlling the false discovery rate (FDR) where there was a significant difference comparing Raw versus VS (p = 0.0130) and ONH versus VS (p = 0.0011). There was no difference comparing Raw versus ONH (p = 0.1076).</p><p><strong>Conclusions: </strong>Overall intrasession and intersession repeatability of mfERG amplitude was relatively poor in our sample, though not markedly different than that reported in some other species and normalization methods did result in improved repeatability. As animal models are critical for vision research, these repeatability estimates will prove useful in interpreting future data collected following interventions or in longitudinal monitoring of disease models.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"117-126"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12216646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604279","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":"DTL versus skin electrodes in recording of multifocal pattern electroretinogram and multifocal photopic negative response.","authors":"Henrike Marie Nowitzki, Michael B Hoffmann, Khaldoon O Al-Nosairy","doi":"10.1007/s10633-025-10014-5","DOIUrl":"10.1007/s10633-025-10014-5","url":null,"abstract":"<p><strong>Objective: </strong>To compare the photopic negative response of the multifocal ERG (mfERG_PhNR) and the multifocal pattern electroretinogram (mfPERG) using DTL electrode (E_DTL) vs skin electrode (E_SKIN) in healthy young and old adults.</p><p><strong>Methods: </strong>Ten \"Young\" [20-27 years] and eight \"Old\" [60-72 years] participants took part in this study. The electrophysiological responses were recorded binocularly using E_DTL and E_SKIN. 5-way ANOVAs were applied to investigate the following factors on mfERG_PhNR: i) ELECTRODE, ii) DILATATION, iii) AGE, iv) EYE, and v) ECCENTRICITY. For mfPERG, the same factors, except dilatation, were investigated applying 4-way ANOVAs. These were conducted for amplitude and peak time of different components as well as signal-to-noise-ratio (SNR).</p><p><strong>Results: </strong>Amplitudes of mfERG_PhNR [mfPERG]-based E_SKIN recording were reduced to 32-38% [37-38%] compared to E_DTL, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> . This corresponded to SNR reduction to 80% [60%], <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> . E_SKIN based responses had shorter peak times, by 0.2-0.5 ms for N1 and P1, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.05</mn></mrow> </math> , [P1: 1.5 ms, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> ]. Both age groups had comparable amplitudes and SNRs, but Young had shorter peak times, by 1.5-2.2 ms for N1 and P1, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.05</mn></mrow> </math> [3.7-4.2 ms for N1, P1, N2, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.05</mn></mrow> </math> ]. Compared to dilated recordings, undilated mfERG_PhNR amplitudes were reduced to 47-87%, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.01</mn></mrow> </math> , and peak times were delayed by 2.0-11.8 ms, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> .</p><p><strong>Conclusions: </strong>mfPERG & mfERG_PhNR traces were similar for E_DTL and E_SKIN. However, for skin electrodes, amplitudes and SNRs were lower and peak times shorter. E_SKIN thus seem to be a viable alternative in patients in whom the use of corneal electrodes is precluded, e.g., children and disabled patients, but at the expense of SNR and with reference to E_SKIN normative data.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"137-153"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968977","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":"Guest editorial: ISCEV Symposium 2025, Utrecht, The Netherlands.","authors":"Maria M van Genderen, Herman E Talsma","doi":"10.1007/s10633-025-10033-2","DOIUrl":"10.1007/s10633-025-10033-2","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"1-3"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301350","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":"Case of uveitis with increased electroretinographic amplitudes following Nivolumab and Ipilimumab administration for malignant melanoma.","authors":"Kumiko Kato, Ryunosuke Nagashima, Hisashi Matsubara, Yuka Yonekawa, Yuzen Kashima, Keitaro Mizumoto, Mineo Kondo","doi":"10.1007/s10633-025-10011-8","DOIUrl":"10.1007/s10633-025-10011-8","url":null,"abstract":"<p><strong>Purpose: </strong>To report our flicker electroretinographic (ERG) findings in a patient who developed uveitis after treatment with immune checkpoint inhibitors (ICIs) for a metastatic malignant melanoma.</p><p><strong>Methods: </strong>ERGs were used to monitor retinal physiology in a patient with ocular complications following systemic ICI administration. Flicker ERGs were recorded using the RETeval system before and after the ICI treatments.</p><p><strong>Results: </strong>A 45-year-old woman was referred to our ophthalmologic clinic for baseline evaluations prior to initiating nivolumab/ipilimumab therapy. The patient had no ocular or ERG abnormalities at the initial visit, but three weeks after starting nivolumab/ipilimumab, she developed conjunctival hyperemia and tearing. Slit-lamp examination showed anterior chamber inflammation, and the ERGs showed a 40% increase in the amplitude from the baseline. However, optical coherence tomography (OCT) did not show any abnormalities. The anterior segment inflammation and increased ERG amplitude resolved with topical betamethasone. The patient developed significant liver damage after the second administration of nivolumab/ipilimumab, and this therapy was discontinued. Two steroid pulse therapies were followed by tapered oral prednisolone. During the follow-up period, no significant abnormalities were observed in the visual acuity or OCT images, but the ERG amplitudes increased from the first to the eighth month after the liver damage was detected. Five years later, the ERGs and OCT findings were within the normal limits, but she had developed a sunset glow fundus in both eyes.</p><p><strong>Conclusion: </strong>ERGs may be a useful objective test for posterior inflammation induced by administration of ICIs that is not evident in OCT images.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"183-188"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613708","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":"Aflibercept for the treatment of pigmentary retinopathy in Kearns-Sayre syndrome?","authors":"Josef Finsterer","doi":"10.1007/s10633-025-10022-5","DOIUrl":"10.1007/s10633-025-10022-5","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"197-198"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101635","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":"Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration.","authors":"Jorge Pincay, Bruna Lopes da Costa, Peter M J Quinn, Marilyn Rodriguez, Ashley Zhou, Maximilian D Kong, Janet R Sparrow, Stephen H Tsang","doi":"10.1007/s10633-025-10016-3","DOIUrl":"10.1007/s10633-025-10016-3","url":null,"abstract":"<p><strong>Purpose: </strong>The ciliopathies are a broad category of pleiotropic disease with numerous genes involved in pathogenesis. One of the genes implicated in the ciliopathies is WDR19, which can lead to several syndromic diseases that may manifest with a form of retinal degeneration. There is a lack of reporting on the WDR19-mediated retinal phenotype, and therefore warrants more clinical investigation. With retinal degeneration being the most prevalent symptom among the ciliopathies, phenotypic reporting is needed to enhance understanding of pathogenesis.</p><p><strong>Methods: </strong>Clinical, imaging, and diagnostic records of patients with two variants in the WDR19 gene and a form of retinal degeneration were retrospectively reviewed. Two different individuals analyzed the variants in the studied patients using SnapGene (Version 4.3.11), employing both the canonical NGG PAM and the NGA PAM prime editors.</p><p><strong>Results: </strong>Four patients from three families each carrying biallelic variants the WDR19 gene were reviewed. Two of the six unique variants identified among the patients were novel. Two identical twin patients presented with a recessive Stargardt (STGD)-like phenotype while the other two patients presented with a clinical picture more characteristic of retinitis pigmentosa (RP). Three of four patients had thickened external limiting membrane (ELM) on spectral-domain optical coherence tomography (SD-OCT). Full-field electroretinograms (ffERG) performed on two patients with the STGD-like phenotype showed a cone-rod pattern of degeneration. Quantitative short-wave fundus autofluorescence (qAF) performed on the two STGD-like patients was within the 95th percentile of normal eyes.</p><p><strong>Conclusions: </strong>WDR19-mediated retinal degeneration is heterogenous in presentation, and in some cases can phenocopy STGD. The foveal sparing phenotype was apparent in three of four patients with relatively preserved visual acuity, which may serve as a retinal prognostic factor in patients with pathogenic variants in WDR19. All six variants evaluated are correctable by prime editing, establishing a foundation for future research in therapeutic development.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"155-167"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778987","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}