Documenta Ophthalmologica最新文献

{"title":"Screening electro-oculography protocol as a part of full-field electroretinography.","authors":"Paula Djukanovic, Martina Jarc Vidmar, Maja Sustar Habjan","doi":"10.1007/s10633-024-09994-7","DOIUrl":"https://doi.org/10.1007/s10633-024-09994-7","url":null,"abstract":"<p><strong>Purpose: </strong>To simplify the electro-oculography (EOG) method and integrate it into the full-field electroretinogram (ffERG) protocol for screening purposes.</p><p><strong>Methods: </strong>20 control subjects and 5 patients with Best vitelliform macular dystrophy (BVMD) underwent EOG recording according to both the standard protocol and screening EOG protocol that was integrated as part of ffERG testing. Mean values of light peak-to-dark trough ratio (LP:DT ratio) were compared between both protocols using the Student's t-test, sensitivity and specificity for the detection of RPE dysfunction were evaluated with ROC analysis and a survey on the difficulty of each protocol was completed by each subject.</p><p><strong>Results: </strong>With the standard EOG mean LP:DT ratio was 2.67 ± 0.61 in controls and 1.12 ± 0.16 in BVMD patients (p < 0.001). With the screening protocol mean LP:DT ratio was 1.98 ± 0.33 in controls and 1.02 ± 0.14 in BVMD (p < 0.001). A comparison of LP:DT ratios showed significant difference between the standard and the screening protocol (p < 0.01 in controls; p = 0.02 in BVMD), however both protocols showed 100% sensitivity and 100% specificity for detection of BVMD. Patients stated that participation in the screening protocol was easier and less uncomfortable.</p><p><strong>Conclusions: </strong>Screening EOG performed as part of ffERG gives comparable results to standard EOG, examination is patient-friendly, time saving and can be used as a preliminary test for the assessment of RPE function.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616535","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":"Special issue on pupil function: trends and advances in technology and understanding and proceedings of the 34th international pupil colloquium, L V Prasad eye institute, Hyderabad, India.","authors":"Shrikant R Bharadwaj, Peter Howarth","doi":"10.1007/s10633-024-09992-9","DOIUrl":"https://doi.org/10.1007/s10633-024-09992-9","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567813","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 unexpected retained metallic intraocular foreign body.","authors":"Bangtao Yao, Yuhui Liu, Hao Yu","doi":"10.1007/s10633-024-09993-8","DOIUrl":"https://doi.org/10.1007/s10633-024-09993-8","url":null,"abstract":"<p><strong>Purpose: </strong>This case report aims to describe a rare case of asymptomatic retained metallic intraocular foreign body (IOFB) in the retina with reduced full-field electroretinography (ff-ERG) in a Chinese woman.</p><p><strong>Methods: </strong>This is a clinical investigation of a patient who unexpectedly presented with a metallic IOFB at the superior-temporal region of the left eye ring during a brain computed tomography.</p><p><strong>Results: </strong>Her best-corrected visual acuity was 20/20 in both eyes. The dilated fundus photograph of the left eye revealed a metallic IOFB in the retina. She reported no ocular symptoms. A diagnosis of asymptomatic metallic IOFB was made definitely. The subsequent ff-ERG demonstrated subnormal amplitudes of dark and light adaption in the left eye, whereas responses were normal in the right eye.</p><p><strong>Conclusions: </strong>Our findings suggest the application of ff-ERG has important benefits for evaluating the visual function in patients with retained IOFB.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564231","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":"A modified analysis protocol for the PhNR test.","authors":"William H Ridder, Jeffrey D Farmer","doi":"10.1007/s10633-024-09995-6","DOIUrl":"https://doi.org/10.1007/s10633-024-09995-6","url":null,"abstract":"<p><strong>Purpose: </strong>Several studies have reported that glaucoma patients have abnormal photopic negative response (PhNR) results compared to reference control subjects. The International Society for Clinical Electrophysiology of Vision (ISCEV) released an extended protocol for PhNR (I-PhNR) in 2018. The purpose of this study was to compare the I-PhNR protocol to a similar protocol modified (M-PhNR) to enhance the performance of the method in detecting glaucomatous damage.</p><p><strong>Methods: </strong>Thirty subjects were enrolled in this study (12 glaucoma patients, 10 glaucoma suspects, 8 normal controls). PhNR tests were conducted with a Diagnosys E3 mobile system (Diagnosys LLC, Lowell, MA). I-PhNR tests utilized all parameters specified by the ISCEV requirement. M-PhNR tests used the same parameters as the ISCEV tests with the exceptions of a 5-45 Hz bandpass filter and a novel, objective sweep-selection parameter. According to the ISCEV protocol, the PhNR relative to baseline (i.e., BT), a-wave and b-wave response amplitudes and BT/b-wave amplitude ratios were measured. Coefficients of variation, receiver operating characteristic (ROC) curves, and t-tests were used to assess the data from one randomly chosen eye per subject.</p><p><strong>Results: </strong>The M-PhNR protocol resulted in a decrease in the intra-subject repeat test coefficient of variation and a decrease in the average inter-subject coefficient of variation for the glaucoma subjects. The ROC curves demonstrated an increase in the area under the curve (AUC) for the M-PhNR compared to the I-PhNR protocol. The sensitivity and specificity were also greater for the M-PhNR protocol.</p><p><strong>Conclusions: </strong>The M-PhNR protocol resulted in a decrease in intra-subject and inter-subject data variability which resulted in a significant increase in the ROC AUC, sensitivity, and specificity for glaucoma. Thus, the M-PhNR protocol shows promise as a better diagnostic tool than the I-PhNR protocol for detecting glaucoma.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544326","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":"Vitamin A deficiency retinopathy in the setting of celiac disease and liver fibrosis.","authors":"Austin Pereira, Tom Wright, Daniel Weisbrod, Brian G Ballios","doi":"10.1007/s10633-024-09978-7","DOIUrl":"10.1007/s10633-024-09978-7","url":null,"abstract":"<p><strong>Purpose: </strong>Vitamin A is a lipid-soluble compound that is critical in maintaining phototransduction. Ocular manifestations of hypovitaminosis A may present with anterior segment signs of xeropthalmia, with advanced cases also causing classic retinal and electrophysiologic changes of vitamin A deficiency retinopathy. We present a case of vitamin A deficiency retinopathy, with corresponding retinal imaging and electrophysiology, in an adult patient with celiac disease and liver fibrosis.</p><p><strong>Methods: </strong>A single case report was conducted in Toronto, Canada.</p><p><strong>Results: </strong>A 77-year-old male with known celiac disease and liver fibrosis presented progressively worsening vision noticed primarily when driving. Vision was 20/50 OD and 20/200 OS. Bitot spots were noted on anterior segment examination. Fundus photography demonstrated bilateral peripheral macular hypopigmentation and far-peripheral granular retinal hypopigmentation with focal yellow dots and hyper-pigmented deposits. Optical coherence tomography (OCT) imaging demonstrated indistinct outer retinal banding with mild outer nuclear layer thinning, focal hyper-reflective deposits, and a thin choroid bilaterally. Full-field electroretinography (ERG) testing demonstrated reduced rod-isolated and combined rod-cone response amplitudes, and multifocal ERG testing demonstrated blunted individual responses throughout the field. The patient was treated with pulse vitamin A therapy. After 6 months of therapy, ERG responses were back within reference range, and the outer retinal changes reversed; visual acuity improved to 20/30 OD and 20/40 OS.</p><p><strong>Conclusion: </strong>This case represents the classic findings of vitamin A deficiency retinopathy on fundus examination and electrophysiologic testing secondary to gastrointestinal pathology. Prompt treatment of high dose vitamin A supplementation led to improvement of full-field and multifocal ERG results, as well as reconstitution of outer retinal architecture.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"125-131"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199447","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":"Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.","authors":"Prathiba Ramakrishnan, Matthew K Kenworthy, Jonathan A Alexis, Jennifer A Thompson, Tina M Lamey, Fred K Chen","doi":"10.1007/s10633-024-09983-w","DOIUrl":"10.1007/s10633-024-09983-w","url":null,"abstract":"<p><strong>Purpose: </strong>To report novel multimodal imaging features and long-term follow-up of Orthodenticle Homeobox 2 (OTX2)-associated pattern Gdystrophy.</p><p><strong>Methods: </strong>A 14-year-old boy referred with glaucoma suspect and macular pigmentation underwent fundus autofluorescence imaging, optical coherence tomography, fluorescein and indocyanine green angiography, visual field test, microperimetry and electrophysiology over a ten-year period. Next-generation sequencing panel identified a de novo heterozygous likely pathogenic OTX2 variant, c.259G>A, [p.(Glu87Lys)].</p><p><strong>Results: </strong>Visual acuity was 20/40 OD and 20/30 OS. Examination showed bilateral enlarged optic nerve heads and increased disc cupping, multiple cilioretinal arteries, a pigmentary maculopathy with stellate-shaped region of hypoautofluorescence, shallow serous macular detachment, subretinal deposits and temporal avascular retina. Angiography showed no source of leakage and absence of retinal neovascularisation despite extensive peripheral non perfusion. Electrophysiological assessments demonstrated mild progressive rod and cone pathway abnormalities, reduced light-adapted b:a ratio, and reduced Arden ratio on electro-oculogram. Ten-year follow-up confirmed a stable disease course despite persistent submacular fluid. There was no associated pituitary structural abnormality or dysfunction.</p><p><strong>Conclusions: </strong>This case study contributes to further understanding of OTX2-associated pattern dystrophy, highlighting its stability over 10 years. Further investigation into inter-individual and intrafamilial variability is warranted.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"115-123"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141632901","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":"Ambient lighting alters pattern electroretinogram P50 peak time and spatial sensitivity.","authors":"Lisa Tucker, Oliver R Marmoy, Siân E Handley, Dorothy A Thompson","doi":"10.1007/s10633-024-09984-9","DOIUrl":"10.1007/s10633-024-09984-9","url":null,"abstract":"<p><strong>Purpose: </strong>Our aim was to explore the effect of ambient lighting on the pattern ERG (PERG).</p><p><strong>Methods: </strong>We compared PERGs recorded in two conditions; room lights on and room lights off. PERGs from 21 adult participants were recorded from each eye to high contrast checks of 50' side width, reversing 3rps in a large (30°) and then standard (15°) field. This was performed first in lights-ON conditions, then 2 min after the room lights were switched off. A minimum of 2 averages of 300 trials were acquired for each condition. A subset of 10 participants had PERGs recorded to a 50' check width with a range of stimulus contrasts (96-18%), also to a range of different check widths (100'-12') at high contrast in both ambient lighting conditions in a 30° field.</p><p><strong>Results: </strong>The lights-ON P50 median peak time (PT) was 3 ms earlier than the lights-OFF P50 from the 30° field (range 0-5 ms) and 15° field (range 0-6 ms). The earlier lights-ON P50 PT was evident at different stimulus contrasts, even after accounting for stimulus contrast reductions associated with stray ambient lighting in lights-ON conditions. Lights-OFF and lights-ON P50 PT were similar to different check widths; the lights-OFF P50 PT to a 50' check width matched the lights-ON P50 PT to a 25' check width.</p><p><strong>Conclusion: </strong>PERG P50 PT in lights-ON ambient light conditions can be earlier than in lights-OFF ambient light conditions. The difference in P50 PT with ambient light may reflect alterations in spatial sensitivity associated with retinal adaptation. These results emphasise the clinical importance of consistent ambient lighting for PERG recording and calibration.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"77-86"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975287","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":"Partial rescue of the full-field electroretinogram in patients with RPE65-related retinal dystrophy following gene augmentation therapy with voretigene neparvovec-rzyl.","authors":"A Amato, W Tschetter, L Everett, S T Bailey, A K Lauer, P Yang, M E Pennesi","doi":"10.1007/s10633-024-09987-6","DOIUrl":"10.1007/s10633-024-09987-6","url":null,"abstract":"<p><strong>Purpose: </strong>To present a series of patients with RPE65-related retinal dystrophy showing a partial rescue of the full-field electroretinogram (ERG) following gene replacement therapy with voretigene neparovec-rzyl (Luxturna®).</p><p><strong>Methods: </strong>This retrospective chart review examined 17 patients treated with voretigene neparovec-rzyl (VN) at the Casey Eye Institute (2018-2022). The last pre-operative ERG and all available post-operative ERGs were analyzed to identify subjects with functional rescue. Measurements of amplitudes and implicit times were compared to data from age-matched controls and the attenuation relative to the lower limit of normal (LLN) was calculated. For comparison with other functional exams, the last pre-operative and all post-treatment best-corrected visual acuity (BCVA) data, visual field (VF) tests and full-field threshold stimulus tests (FST) were also described.</p><p><strong>Results: </strong>Of patients who underwent ERGs, most had unrecordable ERGs that did not change after treatment. However, we identified three patients, treated bilaterally, who demonstrated partial rescue of the full-field ERG in both eyes which was sustained during the course of the study.</p><p><strong>Conclusions: </strong>This is the largest series of patients treated with VN showing a partial rescue of the ERG. This is also the first report of bilateral ERG rescue, as well as the first description of ERG recovery occurring in non-pediatric subjects. Full-field ERG could be used in combination with other psychophysical tests and imaging modalities to detect and deepen our understanding of the response to this gene therapy approach.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"63-75"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975288","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":"Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.","authors":"Jorge Pincay, Marilyn Rodriguez, Divya Kaushal, Stephen H Tsang","doi":"10.1007/s10633-024-09985-8","DOIUrl":"10.1007/s10633-024-09985-8","url":null,"abstract":"<p><strong>Purpose: </strong>Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by pleiotropism that affects multiple organ systems. The primary features of BBS include rod-cone dystrophy, renal anomalies, post axial polydactyly, and neurologic deficits. The clinical picture of BBS is extensively heterogenous, with inter and intra familial patients varying in levels of syndromic manifestations and severity of symptoms.</p><p><strong>Methods: </strong>In this study we examined a monocular BBS patient who was compound heterozygous for mutations in the ARL6 (BBS3) gene.</p><p><strong>Results: </strong>The patient reported visual complaints consistent with a clinical picture of cone or cone-rod dystrophy. Fundus imaging showed retinal mottling on color photos and a parafoveal hyperfluorescent ring on short wave autofluorescence (SW-AF). Full field electroretinogram (ffERG) revealed normal scotopic step tracings and diminished amplitudes in the photopic steps.</p><p><strong>Conclusion: </strong>This rod-sparing result was consistent with cone-dystrophy and is the first known case of a rod-sparing ffERG phenotype in a BBS patient with mutations in the ARL6 gene. This contributes to the existing phenotype and may potentially contribute to furthering our understanding of BBS pathophysiology.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"133-138"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792197","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 FreiBurger: a new optotype for P300-based acuity estimation.","authors":"Céline Z Duval, Saskia B Kaczan, Sven P Heinrich","doi":"10.1007/s10633-024-09982-x","DOIUrl":"10.1007/s10633-024-09982-x","url":null,"abstract":"<p><strong>Purpose: </strong>Accurate objective assessment of visual acuity is crucial, particularly in cases of suspected malingering, or when the patient's inability to cooperate makes standard psychophysical acuity tests unreliable. The P300 component of the event-related potentials offers a potential solution and even allows for the use of standard optotypes like the Landolt C. However, low-vision patients with large eccentric visual field defects often struggle to locate the Landolt C gap quickly enough for a P300 to be reliably produced.</p><p><strong>Methods: </strong>Addressing this challenge, we introduce a novel optotype (the \"FreiBurger\") with a critical detail that extends through the optotype's center. Two experiments, with 16 and 12 participants, respectively, were conducted. In the first, psychophysical acuity estimates were obtained with both the FreiBurger and the Landolt C. In the second, we tested the performance of the FreiBurger, relative to the Landolt C, in eliciting a P300 with undegraded vision, simulated low vision, and in a simulated combination of low vision and visual field constriction.</p><p><strong>Results: </strong>Comparable psychophysical acuity values (average difference 0.03 logMAR) were obtained for both optotypes. In the P300 recordings, both optotypes produced similar P300 responses under conditions of undegraded vision and low vision. However, with the combination of low vision and constricted visual field, the P300 could only be reliably obtained with the FreiBurger, while the amplitude was drastically reduced with the Landolt C (9.1 µV vs. 2.2 µV; p < 0.0005).</p><p><strong>Conclusion: </strong>The new optotype extends the applicability of P300-based acuity estimation to the frequently encountered combination of low vision and constricted visual field, where Landolt C optotypes fail. Although impairments were simulated in the present study, we assume that the advantages of the new optotype will also manifest in patients with such impairments. We furthermore expect the advantages to apply to time-sensitive psychophysical examinations as well.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"87-98"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141445826","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}