Documenta Ophthalmologica最新文献

筛选
英文 中文
VEP examination with new portable device. 使用新的便携式设备进行VEP检查。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2023-02-01 DOI: 10.1007/s10633-022-09911-w
Miroslav Kuba, Jan Kremláček, František Vít, Zuzana Kubová, Jana Langrová, Jana Szanyi, Marie Chutná
{"title":"VEP examination with new portable device.","authors":"Miroslav Kuba,&nbsp;Jan Kremláček,&nbsp;František Vít,&nbsp;Zuzana Kubová,&nbsp;Jana Langrová,&nbsp;Jana Szanyi,&nbsp;Marie Chutná","doi":"10.1007/s10633-022-09911-w","DOIUrl":"https://doi.org/10.1007/s10633-022-09911-w","url":null,"abstract":"<p><strong>Introduction: </strong>We developed a new portable device called \"VEPpeak\" for the examination of visual evoked potentials (VEPs) to extend VEP examination beyond specialized electrophysiological laboratories and to simplify the use of this objective, noninvasive, and low-cost method for diagnostics of visual and central nervous system dysfunctions.</p><p><strong>Methods: </strong>VEPpeak consists of a plastic headset with a total weight of 390 g containing four EEG amplifiers, an A/D converter, a control unit, and a visual LED stimulator built in the front, vertically adjustable peak. The device is powered and controlled via USB connection from a standard PC/notebook using custom software for visual stimuli generation and for VEP recording and processing. Up to four electrodes can be placed at any scalp location or in combination with two dry electrodes incorporated into the headset. External visual stimulators, such as a tablet, can be used with synchronization. Feasibility and validation studies were conducted with 86 healthy subjects and 76 neuro-ophthalmological patients including 67 who were during the same session also tested with a conventional VEP system.</p><p><strong>Results: </strong>VEPpeak recordings to standard (pattern-reversal) and non-standard (motion-onset, red-green alternation) were robust and repeatable and obtained also in immobilized patients. Good comparability of results was achieved between VEPpeak and standard examination. Some systematic differences in peak latencies and amplitudes are consistent with differences in stimulus characteristics of the two compared systems.</p><p><strong>Discussion: </strong>VEPpeak provides an inexpensive system for clinical use requiring portability. In addition to ISCEV standard VEP protocols, free choice of stimuli and bio-signal recordings make the device universal for many electrophysiological purposes.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 1","pages":"79-91"},"PeriodicalIF":1.4,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9103013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Comparison of DTL and gold cup skin electrodes for recordings of the multifocal electroretinogram. DTL与金杯皮肤电极记录视网膜多焦电图的比较。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2023-02-01 DOI: 10.1007/s10633-022-09912-9
Theresa Eckermann, Michael B Hoffmann, Khaldoon O Al-Nosairy
{"title":"Comparison of DTL and gold cup skin electrodes for recordings of the multifocal electroretinogram.","authors":"Theresa Eckermann,&nbsp;Michael B Hoffmann,&nbsp;Khaldoon O Al-Nosairy","doi":"10.1007/s10633-022-09912-9","DOIUrl":"https://doi.org/10.1007/s10633-022-09912-9","url":null,"abstract":"<p><strong>Objective: </strong>To compare mfERG recordings with the Dawson-Trick-Litzkow (DTL) and gold cup skin electrode in healthy young and old adults and to test the sensitivity of both electrodes to age-related changes in the responses.</p><p><strong>Methods: </strong>Twenty participants aged 20-27 years (\"young\") and 20 participants aged 60-75 (\"old\") with a visual acuity of ≤ 0 logMAR were included. The mfERG responses were recorded simultaneously using DTL and skin electrodes. P1 amplitudes, peak times and signal-to-noise ratios (SNRs) were compared between both electrodes and across age groups, and correlation analyses were performed. The electrode's performance in discriminating between age groups was assessed via area under curve (AUC) of receiver operating characteristics.</p><p><strong>Results: </strong>Both electrodes reflected the typical waveform of mfERG recordings. For the skin electrode, however, P1 amplitudes were significantly reduced (p < 0.001; reduction by over 70%), P1 peak times were significantly shorter (p < 0.001; by approx. 1.5 ms), and SNRs were reduced [(p < 0.001; logSNR ± SEM DTL young (old) vs gold cup: 0.79 ± 0.13 (0.71 ± 0.15) vs 0.37 ± 0.15 (0.34 ± 0.13)]. All mfERG components showed strong significant correlations (R<sup>2</sup> ≥ 0.253, p < 0.001) between both electrodes for all eccentricities. Both electrodes allowed for the identification of age-related P1 changes, i.e., P1-amplitude reduction and peak-time delay in the older group. There was a trend to higher AUC for the DTL electrode to delineate these differences between age groups, which, however, failed to reach statistical significance.</p><p><strong>Conclusions: </strong>Both electrode types enable successful mfERG recordings. However, in compliant patients, the use of the DTL electrode appears preferable due to the larger amplitudes, higher signal-to-noise ratio and its better reflection of physiological changes, i.e., age effects. Nevertheless, skin electrodes appear a viable alternative for mfERG recordings in patients in whom the use of corneal electrodes is precluded, e.g., children and disabled patients.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 1","pages":"67-78"},"PeriodicalIF":1.4,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9107518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of COVID-19 on referral patterns for clinical electrophysiological testing. 新冠肺炎疫情对临床电生理检测转诊方式的影响
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2023-02-01 DOI: 10.1007/s10633-022-09908-5
Michael E Grinton, Peng Yan, Tom Wright
{"title":"The effect of COVID-19 on referral patterns for clinical electrophysiological testing.","authors":"Michael E Grinton,&nbsp;Peng Yan,&nbsp;Tom Wright","doi":"10.1007/s10633-022-09908-5","DOIUrl":"https://doi.org/10.1007/s10633-022-09908-5","url":null,"abstract":"<p><strong>Purpose: </strong>To provide an overview of the effect that the COVID-19 pandemic has had on visual electrophysiology referral patterns and the subsequent effect this may have on patients.</p><p><strong>Methods: </strong>All electrodiagnostic tests performed at Kensington Vision and Research Centre, Toronto Canada, in a 3-month period prior to the COVID-19 pandemic (1 September 2019 to 30 November 2019) were compared to a 3-month period after the start of the COVID-19 pandemic (1 September 2021 to 30 November 2021).</p><p><strong>Results: </strong>A total of 502 patients had electrodiagnostic testing carried out in the designated time periods: 292 in the time period prior to the COVID-19 pandemic and 210 patients after. There was a significant change in the reason for referral in patients pre-COVID compared to post-COVID (p = 0.004). There was a 43% reduction in referrals for drug monitoring, 25% reduction for hereditary pathology and a 27% increase in acquired pathology after the start of the COVID-19 pandemic compared to before.</p><p><strong>Conclusions: </strong>There was a substantial decrease in the total number of patients referred after the start of the COVID-19 pandemic compared to pre-COVID with inherited retinal pathology and drug monitoring patients being 2 populations most affected by the disruption to healthcare services.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 1","pages":"3-6"},"PeriodicalIF":1.4,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9734301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9107509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Temporal frequency dependence of the polarity inversion between upper and lower visual field in the pattern-onset steady-state visual evoked potential. 模式启动稳态视觉诱发电位中上下视野极性反转的时间频率依赖性。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2023-02-01 DOI: 10.1007/s10633-022-09904-9
Roman Kessler, Sven P Heinrich
{"title":"Temporal frequency dependence of the polarity inversion between upper and lower visual field in the pattern-onset steady-state visual evoked potential.","authors":"Roman Kessler,&nbsp;Sven P Heinrich","doi":"10.1007/s10633-022-09904-9","DOIUrl":"https://doi.org/10.1007/s10633-022-09904-9","url":null,"abstract":"<p><strong>Purpose: </strong>According to the cruciform model, the upper and lower halves of the visual field representation in the primary visual cortex are located mainly on the opposite sides of the calcarine sulcus. Such a shape would have consequences for the surface-recorded visual evoked potential (VEP), as V1 responses to stimulation of the upper and lower hemifield manifest with opposite polarity (i.e., polarity inversion). However, the steady-state VEP results from a complex superposition of response components from different cortical sources, which can obscure the inversion of polarity. The present study assesses the issue for different stimulation frequencies which result in different patterns of superposition in the steady-state response.</p><p><strong>Methods: </strong>Sequences of brief pattern-onset stimuli were presented at different stimulation rates ranging from 2 Hz (transient VEP) to 13 Hz (steady-state VEP). The upper and lower hemifields were tested separately and simultaneously. The data were assessed both in the time domain and in the frequency domain.</p><p><strong>Results: </strong>Comparing the responses to the stimulation of upper and lower hemifield, polarity inversion was present within a limited time interval following individual stimulus onsets. With increasing frequency, this resulted in an approximate inversion of the full steady-state response and consequently in a phase shift of approximately 180° in the time-domain response. Polarity inversion was more prominent at electrode Pz, also for transient responses. Our data also demonstrated that the sum of the hemifield responses is a good approximation of the full-field response.</p><p><strong>Conclusion: </strong>While the basic phenomenon of polarity inversion occurs irrespective of the stimulus frequency, its relative impact on the steady-state response as a whole is the largest for high stimulation rates. We propose that this is because longer-lasting response components from other visual areas are not well represented in the steady-state VEP at higher frequencies.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 1","pages":"53-63"},"PeriodicalIF":1.4,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9163713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic analysis and clinical features of three Chinese patients with Oguchi disease. 3例中国小口病的遗传分析及临床特点。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2023-02-01 DOI: 10.1007/s10633-022-09910-x
Xing Wei, Hui Li, Shijing Wu, Tian Zhu, Ruifang Sui
{"title":"Genetic analysis and clinical features of three Chinese patients with Oguchi disease.","authors":"Xing Wei,&nbsp;Hui Li,&nbsp;Shijing Wu,&nbsp;Tian Zhu,&nbsp;Ruifang Sui","doi":"10.1007/s10633-022-09910-x","DOIUrl":"https://doi.org/10.1007/s10633-022-09910-x","url":null,"abstract":"<p><strong>Background: </strong>Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness caused by disease-causing variants in the rhodopsin kinase gene (GRK1) or the arrestin gene (SAG). Our study aims to describe the clinical features and identify the genetic defects for three Chinese patients with Oguchi disease.</p><p><strong>Methods: </strong>We conducted detailed ophthalmologic examinations for three patients from three unrelated non-consanguineous Chinese families. Targeted next-generation sequencing (targeted NGS) and copy number variations (CNVs) analysis were applied to screen pathogenic variants. Sanger sequencing validation, quantitative real-time PCR (qPCR), and segregation analysis were further performed for confirmation. Subsequently, a combined genetic and structural biology approach was used to infer the likely functional consequences of novel variants.</p><p><strong>Results: </strong>All three patients presented with typical clinical features of Oguchi disease, including night blindness, characteristic fundus appearance (Mizuo-Nakamura phenomenon), attenuated rod responses, and negative ERG waveforms. Their visual acuity and visual field were normal. Genetic analysis revealed two pathogenic variants in SAG and four pathogenic variants in GRK1. Patient 1 was identified to harbor compound heterozygous SAG variants c.874C > T (p.R292*) and exon2 deletion. Compound heterozygous GRK1 variants c.55C > T (p.R19*) and c.1412delC (p.P471Lfs*52) were found in patient 2. In patient 3, compound heterozygous GRK1 variants c.946C > A (p.R316S) and c.1388 T > C (p. L463P) were detected.</p><p><strong>Conclusions: </strong>We reported the first two Chinese Oguchi patients with novel GRK1 pathogenic variants (P471Lfs*52, R316S, L463P) and one Oguchi case with SAG, indicating both GRK1 and SAG are important causative genes in Chinese Oguchi patients.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 1","pages":"17-32"},"PeriodicalIF":1.4,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9462214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Pattern ERGs suggest a possible retinal contribution to the visual acuity loss in acute optic neuritis. 急性视神经炎患者的视敏度下降可能与视网膜有关。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2022-12-01 DOI: 10.1007/s10633-022-09896-6
I Kleerekooper, L Del Porto, L Dell'Arti, J Guajardo, S Leo, A G Robson, S A Trip, A Petzold, G T Plant, G E Holder
{"title":"Pattern ERGs suggest a possible retinal contribution to the visual acuity loss in acute optic neuritis.","authors":"I Kleerekooper,&nbsp;L Del Porto,&nbsp;L Dell'Arti,&nbsp;J Guajardo,&nbsp;S Leo,&nbsp;A G Robson,&nbsp;S A Trip,&nbsp;A Petzold,&nbsp;G T Plant,&nbsp;G E Holder","doi":"10.1007/s10633-022-09896-6","DOIUrl":"https://doi.org/10.1007/s10633-022-09896-6","url":null,"abstract":"<p><strong>Purpose: </strong>Macular involvement in optic neuritis (ON) is well-recognised but poorly understood and may be of clinical relevance. This study explores macular structure-function correlates in acute ON.</p><p><strong>Methods: </strong>This cross-sectional cohort study recruited ON patients within 14 days of symptom onset. Subjects underwent pattern electroretinography (PERG), pattern visual evoked potentials (PVEP) and optical coherence tomography (OCT) imaging. PERG P50 and N95 components were correlated with OCT data.</p><p><strong>Results: </strong>Twenty-six individuals with ON were recruited, comprising eleven multiple sclerosis (MS-ON), six myelin oligodendrocyte glycoprotein associated (MOG-ON) and nine with isolated ON. These were compared with 28 healthy controls. PVEPs were undetectable in 11 (42%) of individuals with ON. When detectable, PVEP P100 was delayed (median 136 ms range 110-173 ms) and amplitude reduced (median 6 μV, range 3-14 μV) in ON compared with controls (both p < 0.001). PERG P50 component amplitudes, largely reflecting macular function, were reduced in affected eyes (median 2.3 μV; range 0.8-5.0 μV) compared with controls (3.3 μV; range 2.8-5.7 μV) and compared with fellow eyes (p < 0.001). The N95:P50 ratio was below the reference range in the affected eyes of five patients. Eight cases (32%) had subnormal P50 amplitudes (< 2.0 μV), and these patients had poorer visual acuity (p = 0.020). P50 amplitudes were positively correlated with an increase in inner nuclear layer thickness (r<sub>s</sub> = 0.36; p = 0.009) and macular ganglion cell and inner plexiform layer (mGCIPL) thickness (r<sub>s</sub> = 0.44, p = 0.022).</p><p><strong>Conclusion: </strong>PERG P50 component reduction reveals dysfunction of inner macular layers in acute ON and correlates with structural alterations on OCT. These early macular pathologic processes are likely to contribute to the visual loss.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"185-195"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10442140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Electronegative ERG or pseudo-negative ERG? 电负性ERG还是伪负性ERG?
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2022-12-01 DOI: 10.1007/s10633-022-09881-z
Graham E Holder, Omar Mahroo
{"title":"Electronegative ERG or pseudo-negative ERG?","authors":"Graham E Holder,&nbsp;Omar Mahroo","doi":"10.1007/s10633-022-09881-z","DOIUrl":"https://doi.org/10.1007/s10633-022-09881-z","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"283-286"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10431876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Flicker electroretinogram in newborn infants. 新生儿视网膜闪烁电图的研究。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2022-12-01 DOI: 10.1007/s10633-022-09889-5
James V M Hanson, Caroline Weber, Oliver A Pfäffli, Dirk Bassler, Daphne L McCulloch, Christina Gerth-Kahlert
{"title":"Flicker electroretinogram in newborn infants.","authors":"James V M Hanson,&nbsp;Caroline Weber,&nbsp;Oliver A Pfäffli,&nbsp;Dirk Bassler,&nbsp;Daphne L McCulloch,&nbsp;Christina Gerth-Kahlert","doi":"10.1007/s10633-022-09889-5","DOIUrl":"https://doi.org/10.1007/s10633-022-09889-5","url":null,"abstract":"<p><strong>Purpose: </strong>To develop and validate a flicker electroretinogram (ERG) protocol in term-born neonates as a potential tool for assessing preterm infants at risk of developing retinopathy of prematurity.</p><p><strong>Methods: </strong>A custom flicker ERG protocol was developed for use with the hand-held RETeval® electrophysiology device. Feasibility of measuring flicker ERG through closed eyelids and without mydriasis was established in a pilot study enabling optimisation of the test protocol. Following this, healthy term-born neonates (gestational age 37-42 weeks) were recruited at the Neonatology clinic of the University Hospital Zurich. Flicker ERG recordings were performed using proprietary disposable skin electrodes during the first four days of life when the infants were sleeping. Flicker stimuli were presented at 28.3 Hz for a stimulus series at 3, 6, 12, 30, and 50 cd·s/m<sup>2</sup>, with two measurements at each stimulus level. Results were analysed offline. Flicker ERG peak times and amplitudes were derived from the averaged measurements per stimulus level for each subject.</p><p><strong>Results: </strong>28 term-born neonates were included in the analysis. All infants tolerated the testing procedure well. Flicker ERG recording was achieved in all subjects with reproducible flicker ERG waveforms for 30 and 50 cd·s/m<sup>2</sup> stimuli. Reproducible ERGs were recorded in the majority of infants for the weaker stimuli (with detectable ERGs in 20/28, 25/28, and 27/28 at 3, 6, and 12 cd·s/m<sup>2</sup>, respectively). Flicker ERG amplitudes increased with increasing stimulus strength, with peak times concurrently decreasing slightly.</p><p><strong>Conclusion: </strong>Flicker ERG recording is feasible and reliably recorded in sleeping neonates through closed eyelids using skin electrodes and without mydriasis. Flicker ERG amplitude decreases for lower luminance flicker but remains detectable for 3 cd·s/m<sup>2</sup> flicker in the majority of healthy term-born neonates. These data provide a basis to study retinal function in premature infants using this protocol.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"175-184"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10499187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Two cases of unilateral cone-rod dysfunction presenting in adult females. 成年女性单侧锥杆功能障碍2例。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2022-12-01 DOI: 10.1007/s10633-022-09893-9
Stephanie Choi, Saagar A Pandit, Archana A Nair, Vivienne Greenstein, Steven L Galetta, Scott E Brodie
{"title":"Two cases of unilateral cone-rod dysfunction presenting in adult females.","authors":"Stephanie Choi,&nbsp;Saagar A Pandit,&nbsp;Archana A Nair,&nbsp;Vivienne Greenstein,&nbsp;Steven L Galetta,&nbsp;Scott E Brodie","doi":"10.1007/s10633-022-09893-9","DOIUrl":"https://doi.org/10.1007/s10633-022-09893-9","url":null,"abstract":"<p><strong>Purpose: </strong>To describe cases of unilateral cone-rod dysfunction presenting in two middle-aged females.</p><p><strong>Methods: </strong>This case series highlights two middle-aged female patients with progressive visual decline in one eye. Fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), multi-focal electroretinogram (mfERG), full-field electroretinogram(ffERG), and genetic testing were obtained.</p><p><strong>Results: </strong>In the first patient, mfERG showed an extinguished response and ffERG demonstrated markedly reduced a-wave and b-wave amplitudes (more pronounced under photopic conditions) in the right eye. SD-OCT showed attenuation of the ellipsoid zone of the right eye. Similar findings were appreciated in the second patient. Genetic testing in the first patient identified three heterozygous variants in PRPH2, RCBTB1, and USH2A. The second patient was found to have heterozygous variants in BBS1 and ABCA4.</p><p><strong>Conclusion: </strong>These two cases add to the literature of case reports of unilateral cone-rod and rod-cone dystrophies. However, the underlying etiology of the unilateral pattern of cone-rod dysfunction and the significance of the heterozygous mutations found in both cases remains uncertain.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"271-281"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10807269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Structure-function models for estimating retinal ganglion cell count using steady-state pattern electroretinography and optical coherence tomography in glaucoma suspects and preperimetric glaucoma: an electrophysiological pilot study. 使用稳态模式视网膜电成像和光学相干断层扫描估计青光眼和准周青光眼视网膜神经节细胞计数的结构-功能模型:一项电生理学先导研究。
IF 1.4 4区 医学
Documenta Ophthalmologica Pub Date : 2022-12-01 DOI: 10.1007/s10633-022-09900-z
Derek Orshan, Andrew Tirsi, Hosam Sheha, Vasiliki Gliagias, Joby Tsai, Sung Chul Park, Stephen A Obstbaum, Celso Tello
{"title":"Structure-function models for estimating retinal ganglion cell count using steady-state pattern electroretinography and optical coherence tomography in glaucoma suspects and preperimetric glaucoma: an electrophysiological pilot study.","authors":"Derek Orshan,&nbsp;Andrew Tirsi,&nbsp;Hosam Sheha,&nbsp;Vasiliki Gliagias,&nbsp;Joby Tsai,&nbsp;Sung Chul Park,&nbsp;Stephen A Obstbaum,&nbsp;Celso Tello","doi":"10.1007/s10633-022-09900-z","DOIUrl":"https://doi.org/10.1007/s10633-022-09900-z","url":null,"abstract":"<p><strong>Purpose: </strong>To derive and validate structure-function models for estimating retinal ganglion cell (RGC) count using optical coherence tomography (OCT) and steady-state pattern electroretinography (ssPERG) parameters in glaucoma suspects (GS) and preperimetric glaucoma (PPG).</p><p><strong>Methods: </strong>In this prospective cross-sectional study, 25 subjects (50 eyes) were recruited at the Manhattan Eye, Ear, and Throat Hospital. Subjects underwent comprehensive eye examinations, OCT, standard automated perimetry (SAP), and ssPERG testing. Eyes were divided into three groups based on the Global Glaucoma Staging System: healthy (N = 30), GS (N = 10), and PPG (N = 10) eyes. The combined structure-function index (CSFI), which estimates retinal ganglion cell count (eRGC<sub>CSFI</sub>) from SAP and OCT parameters, was calculated in each study subject. Two prediction formulas were derived using a generalized linear mixed model (GLMM) to predict eRGC<sub>CSFI</sub> from ssPERG parameters, age, and average retinal nerve fiber layer thickness (ARNFLT) in 30 eyes selected at random (training group). GLMM predicted values were cross-validated with the remaining 20 eyes (validation group).</p><p><strong>Results: </strong>The ARNFLT, ssPERG parameters magnitude (Mag) and magnitudeD (MagD), and eRGC<sub>CSFI</sub> were significantly different among study groups (ANOVA p ≤ 0.001). Pearson correlations demonstrated significant associations among ARNFLT, ssPERG parameters, and eRGC<sub>CSFI</sub> (r<sup>2</sup> ≥ 0.31, p < 0.001). Two GLMMs predicted eRGC<sub>CSFI</sub> from Mag (eRGC<sub>Mag</sub>) and MagD (eRGC<sub>MagD</sub>), respectively, with significant equations (F(3,18), F(3,19) ≥  58.37, R<sup>2</sup> = 0.90, p < 0.001). eRGC<sub>Mag</sub> and eRGC<sub>MagD</sub> in the validation group (R<sup>2</sup> = 0.89) correlated with eRGC<sub>CSFI</sub> similarly to the training group. Multivariate pairwise comparisons revealed that eRGC<sub>Mag</sub> and eRGC<sub>MagD</sub> distinguished between healthy, GS, and PPG eyes (p ≤ 0.035), whereas independent Mag, MagD, and ARNFLT measures did not distinguish between GS and PPG eyes.</p><p><strong>Conclusion: </strong>This pilot study offers the first combined structure-function models for estimating RGC count using ssPERG parameters. RGC counts estimated with these models were generalizable, strongly associated with CSFI estimates, and performed better than individual ssPERG and OCT measures in distinguishing healthy, GS, and PPG eyes.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"221-235"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653319/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10807282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信