Documenta Ophthalmologica最新文献

{"title":"Melanoma-associated retinopathy with anti-TRPM1 autoantibodies showing concomitant Off-bipolar cell dysfunction.","authors":"Wei-Che Hung,&nbsp;Hui-Chen Cheng,&nbsp;An-Guor Wang","doi":"10.1007/s10633-022-09901-y","DOIUrl":"https://doi.org/10.1007/s10633-022-09901-y","url":null,"abstract":"<p><strong>Background: </strong>To report the clinical features of a patient with melanoma-associated retinopathy (MAR) with anti-transient receptor potential cation channel, subfamily M, member 1 (TRPM1) autoantibodies showing concomitant Off-bipolar cell dysfunction.</p><p><strong>Methods: </strong>We evaluated a patient with a past history of scalp melanoma presented with sudden-onset shimmering photopsia in both eyes. MAR was confirmed with complete ophthalmic examinations, electronegative electroretinogram (ERG), and the presence of anti-TRPM1 autoantibodies by Western blot analysis. S-cone ERG and photopic On-Off ERG were studied in this patient as well.</p><p><strong>Results: </strong>The patient's best-corrected visual acuity was 6/30 in the right eye and 6/8.6 in the left eye. Fundus and OCT findings were unremarkable. Visual field test showed severe constriction in both eyes. His full-field ERG was electronegative. S-cone ERG recorded preservation of L/M-cone-mediated response and undetectable S-cone-mediated response. Photopic On-Off ERG disclosed attenuated On- and Off-response. Western blot analysis confirmed immunoreactivity of the patient's serum to a 30 kDa TRPM1 recombinant protein. Whole-body positron emission tomography scan detected lymph node metastases in the neck.</p><p><strong>Conclusions: </strong>Anti-TRPM1 autoantibody-positive MAR varies greatly in its presentation and clinical course. We present a case of anti-TRPM1 autoantibody-positive MAR with atypical feature of Off-bipolar cell involvement. A complete electroretinographic study together with identification of the pathogenic antiretinal autoantibodies may help better understand and subclassify the disease in the future.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"263-270"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10788934","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":"Fullfield and extrafoveal visual evoked potentials in healthy eyes: reference data for a curved OLED display.","authors":"Sabine Baumgarten,&nbsp;Tabea Hoberg,&nbsp;Tibor Lohmann,&nbsp;Babac Mazinani,&nbsp;Peter Walter,&nbsp;Antonis Koutsonas","doi":"10.1007/s10633-022-09897-5","DOIUrl":"https://doi.org/10.1007/s10633-022-09897-5","url":null,"abstract":"<p><strong>Purpose: </strong>Visual evoked potentials (VEP) present an important diagnostic tool in various ophthalmologic and neurologic diseases. Quantitative response data varied among patients but are also dependent on the recording and stimulating equipment. We established VEP reference values for our setting which was recently modified by using a curved OLED display as visual stimulator. Distinction is made between fullfield (FF) and extrafoveal (EF) conduction, and the effect of sex, age and lens status was determined.</p><p><strong>Methods: </strong>This prospective cross-sectional study included 162 healthy eyes of 162 test persons older than 10 years. A fullfield pattern-reversal visual evoked potential (FF-PR-VEP) with two stimulus sizes (ss) (20.4' and 1.4°) as well as an extrafoveal pattern onset-offset VEP (EF-P-ON/OFF-VEP) (ss 1.4° and 2.8°) was derived in accordance with the International Society for Clinical Electrophysiology of Vision guidelines. Amplitudes and latencies were recorded, and the mean values as well as standard deviations were calculated. Age- and sex-dependent influences and the difference between phakic and pseudophakic eyes were examined. A subanalysis of EF-P-ON/OFF-VEP and fullfield pattern onset-offset VEP (FF-P-ON/OFF-VEP) was performed. A 55-inch curved OLED display (LG55EC930V, LG Electronics Inc., Seoul, South Korea) was used as visual stimulator.</p><p><strong>Results: </strong>Mean P100 latency of the FF-PR-VEP was 103.81 ± 7.77 ms (ss 20.4') and 102.58 ± 7.26 ms (ss 1.4°), and mean C2 latency of the EF-P-ON/OFF-VEP was 102.95 ± 11.84 ms (ss 1.4°) and 113.58 ± 9.87 ms (ss 2.8°). For all stimulation settings (FF-PR-VEP, EF-P-ON/OFF-VEP), a significant effect of age with longer latencies and smaller amplitudes in older subjects and higher amplitudes in women was observed. We saw no significant difference in latency or amplitude between phakic and pseudophakic eyes and between EF-P-ON/OFF-VEP and FF-P-ON/OFF-VEP.</p><p><strong>Conclusions: </strong>A curved OLED visual stimulator is well suited to obtain VEP response curves with a reasonable interindividual variability. We found significant effects of age and gender in our responses but no effect of the lens status. EF-P-ON/OFF-VEP tends to show smaller amplitudes.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"247-262"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10446901","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":"Safety of intravitreal metoprolol in eyes with central serous chorioretinopathy.","authors":"Annelise Nicotti Gonçalves,&nbsp;André Messias,&nbsp;Leandro Chaves,&nbsp;Thaís Marino de Azeredo Bastos,&nbsp;Rodrigo Jorge","doi":"10.1007/s10633-022-09895-7","DOIUrl":"https://doi.org/10.1007/s10633-022-09895-7","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate ocular safety of intravitreal metoprolol in eyes with central serous chorioretinopathy.</p><p><strong>Methods: </strong>Five eyes of five patients diagnosed with chronic central serous chorioretinopathy (cCSC) previously treated unsuccessfully with oral spironolactone, micropulse laser and intravitreal anti-vascular endothelial growth factor agents were enrolled and received off-label intravitreal metoprolol (50 µg/0.05 ml). Baseline and follow-up examinations included measurement of best-corrected visual acuity (BCVA), intraocular pressure, anterior chamber cellular/flare scores, vitritis classification, fluorescein and indocyanine green angiography, spectral domain optical coherence tomography and electroretinography (ERG), recorded by means of DTL electrodes and following the standard suggested by the International Society for Clinical Electrophysiology of Vision (ISCEV). The total follow-up period was 4 weeks.</p><p><strong>Results: </strong>There were no significant differences between baseline and follow-up ERG parameters: scotopic or photopic, a- and b-wave amplitude and implicit time, nor oscillatory potentials amplitude, or whatsoever. No intraocular inflammation sign was observed. In addition, BCVA showed small improvement in 4 or kept baseline values in 1 patient. The subretinal and/or intraretinal fluid volume reduced in all patients at 1 month after treatment.</p><p><strong>Conclusion: </strong>Patients with refractory cCSC treated with intravitreal 50 µg/0.05 ml metoprolol showed no signs of acute ocular toxicity, along with intraretinal fluid reduction and slight BCVA improvement 1 month after injection. This data suggest that intravitreal metoprolol may be a safe alternative for cCSC.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"211-219"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10442679","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":"Visual evoked potentials as a method for the prospective assessment of tacrolimus neurotoxicity in patients after kidney transplantation.","authors":"Sebastian Sirek,&nbsp;Aureliusz Kolonko,&nbsp;Dorota Pojda-Wilczek","doi":"10.1007/s10633-022-09898-4","DOIUrl":"https://doi.org/10.1007/s10633-022-09898-4","url":null,"abstract":"<p><strong>Introduction: </strong>Neurotoxicity, including optic nerve injury, is one of the most common adverse effects of tacrolimus, the principal calcineurin inhibitor used after kidney transplantation (KTx). The electrophysiologic measurements of both pattern visual evoked potentials (PVEP) and flash visual evoked potentials (FVEP) are valuable when drug-induced optic neuropathy is suspected.</p><p><strong>Objectives: </strong>To determine whether VEP measurement is a sensitive and repeatable method for monitoring tacrolimus neurotoxicity.</p><p><strong>Material and methods: </strong>This prospective study focused on 35 patients (20 M, 15F, 69 eyes, mean age 43 ± 11 years) who were at a median of 3.0 (IQR, 2.2-3.7) months after KTx at the time of the initial VEP evaluation and were treated with tacrolimus since KTx. The follow-up VEP examination was done after a median of 24 (22-27) months (both VEP measurements followed the ISCEV standards). The P100 wave latency and amplitude for the 1° and 15' PVEP simulations, and the P2 wave latency and amplitude for the FVEP were analyzed.</p><p><strong>Results: </strong>For the 1° checks, the P100 wave latency and amplitude values were significantly worse in the follow-up examination compared to the early post-transplant time-point. Independent associations between FVEP parameters and the tacrolimus blood trough level were observed in the follow-up examination but not at the early post-transplant period. The P2 wave latency correlated with the tacrolimus trough level only in patients treated with the twice-daily, but not the once-daily, tacrolimus formulation. The brain derived neurotrophic factor (BDNF) level correlated with the P100 (15') latency (R = 0.499; p = 0.005) and the P2 latency (R = 0.409; p = 0.025) only in patients treated with the once-daily, but not the twice-daily, tacrolimus formulation.</p><p><strong>Conclusion: </strong>The observations in this study may support the rationale for the use of VEP measurements as non-invasive monitoring of subclinical tacrolimus neurotoxicity.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"197-209"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10447404","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":"Residual rod function in CNGB1 mutant dogs.","authors":"Simon M Petersen-Jones,&nbsp;Nathaniel Pasmanter,&nbsp;Laurence M Occelli,&nbsp;Janice R Querubin,&nbsp;Paige A Winkler","doi":"10.1007/s10633-022-09899-3","DOIUrl":"https://doi.org/10.1007/s10633-022-09899-3","url":null,"abstract":"<p><strong>Purpose: </strong>Mutations in the cyclic nucleotide-gated (CNG) channel beta subunit (CNGB1) are an important cause of recessive retinitis pigmentosa. We identified a large animal model with a truncating mutation of CNGB1. This study reports the persistence of small, desensitized rod ERG responses in this model.</p><p><strong>Methods: </strong>Dark-, light-adapted and chromatic ERGs were recorded in CNGB1 mutant dogs and age and breed matched controls. Comparisons were made with a dog model known to completely lack rod function; young dogs with a mutation in the rod phosphodiesterase 6 alpha subunit (PDE6A^-/-). Immunohistochemistry (IHC) to label the rod CNG alpha (CNGA1) and CNGB1 subunits was performed.</p><p><strong>Results: </strong>The dark-adapted ERG of CNGB1 mutant dogs had a raised response threshold with lack of normal rod response and a remaining cone response. Increasing stimulus strength resulted in the appearance of a separate, slower positive waveform following the dark-adapted cone b-wave. With increasing stimulus strength this increased in amplitude and became faster to merge with the initial b-wave. Comparison of responses from PDE6A^-/- (cone only dogs) with CNGB1 mutant dogs to red and blue flashes and between dark-adapted and light-adapted responses supported the hypothesis that the CNGB1 mutant dog had residual desensitized rod responses. CNGB1 mutant dogs had a small amount of CNGA1 detectable in the outer segments.</p><p><strong>Conclusions: </strong>CNGB1 mutant dogs have a residual ERG response from desensitized rods. This may be due to low levels of CNGA1 in outer segments.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 3","pages":"237-246"},"PeriodicalIF":1.4,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10442128","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 clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.","authors":"P Weston,&nbsp;D Taranath,&nbsp;J Liebelt,&nbsp;N Smith","doi":"10.1007/s10633-022-09892-w","DOIUrl":"https://doi.org/10.1007/s10633-022-09892-w","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this paper is to present a case study illustrating the importance of electrophysiological investigation in the diagnosis and serial monitoring of isolated congenital nystagmus.</p><p><strong>Results: </strong>Serial electophysiological monitoring was undertaken in the male proband over a 9-year period commencing with initial assessment at 12 weeks of age: Skin electroretinograms (sERGs) were initially absent but subsequently revealed low-amplitude responses, electronegative morphologies and notched flicker responses suggestive of incomplete congenital stationary night blindness (CSNB2), but with an absent dark-adapted rod-specific response, while flash visual evoked potentials (fVEPs) demonstrated persistent crossed asymmetry, typical of albinoid misrouting of the optic nerves. Molecular investigation confirmed a novel hemizygous frame shift mutation in the CACNA1F gene, considered to be pathogenic and causative of X-linked CSNB2; additionally, a novel heterozygous missense variation in one copy of the RIMS1 gene was identified, pathogenic mutations of which underpin late-onset autosomal dominant cone-rod dystrophy (type 7). Segregation studies confirmed maternal inheritance of both mutations in the clinically asymptomatic mother in whom depressed rod-specific responses were confirmed on sERG. The child's visual acuity has remained stable as have the sERGs which have been verified by recordings using scleral electrodes.</p><p><strong>Conclusions: </strong>The importance of recording ERGs as part of evaluating infants who present with nystagmus, even with a normal fundus appearance, is supported. Further, sERGs were able to distinguish an apparent variant of CSNB2 and could give consistent results over many years. FVEP results add to the evidence that albinoid misrouting of the optic nerves may occur in cases of CSNB2. ERGs and fVEPs can provide valuable information in discriminating the relative diagnostic importance of multiple genetic abnormalities.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 2","pages":"163-174"},"PeriodicalIF":1.4,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9106000","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 59th annual ISCEV symposium Liverpool, United Kingdom, 3rd-6th August 2022.","authors":"Dorothy Thompson","doi":"10.1007/s10633-022-09884-w","DOIUrl":"https://doi.org/10.1007/s10633-022-09884-w","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 Suppl 1","pages":"1-2"},"PeriodicalIF":1.4,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40514295","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":"ISCEV 2022 Symposium Author Index.","authors":"","doi":"10.1007/s10633-022-09885-9","DOIUrl":"https://doi.org/10.1007/s10633-022-09885-9","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 Suppl 1","pages":"37-41"},"PeriodicalIF":1.4,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40628312","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 relation of the multifocal electroretinographic response to macular layer volume.","authors":"Mariana I Fonseca,&nbsp;Alexandra Nouck-A-Nwal,&nbsp;Lucia Ambrosio,&nbsp;Pablo Altschwager,&nbsp;Ronald M Hansen,&nbsp;Anne B Fulton,&nbsp;James D Akula","doi":"10.1007/s10633-022-09873-z","DOIUrl":"https://doi.org/10.1007/s10633-022-09873-z","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the association of the multifocal electroretinographic (mfERG) response amplitude with the volumes of the inner, postreceptor, and photoreceptor retinal layers in the region stimulated by each mfERG element.</p><p><strong>Methods: </strong>Sixteen healthy, young adult control subjects were studied. Each of the 103 hexagonal elements of the standard, scaled mfERG were aligned, where possible, with patches of retina imaged using optical coherence tomography. Stimuli falling on the fovea and on the optic nerve head were excluded. Linear mixed-effects modeling was then used to derive estimated coefficients (voltage/volume) for the mfERG response throughout the full 80 ms standard epoch. The resulting predicted response amplitudes originating in each layer were then compared to pharmacologically \"dissected\" mfERGs obtained from other studies in monkey eyes.</p><p><strong>Results: </strong>Across the duration of the response, the amplitude of the modeled contribution from (1) the inner retina was small-to-modest, (2) the postreceptor retina was larger and contained two prominent peaks, and (3) the photoreceptor response was the largest and most closely paralleled the overall (i.e., intact) response, including late-appearing oscillations. The significance of each layer's contribution was greatest when the absolute amplitude of that layer's response was largest. The contribution of the inner retina was maximally significant in the interval between the prominent troughs and peaks of the intact response. The contributions of the postreceptor and photoreceptor responses were maximally significant at the prominent troughs and peaks of the intact response.</p><p><strong>Conclusions: </strong>The results of the model were in good overall agreement with previous interpretations of the cellular contributions to the mfERG. There was also fair agreement with pharmacologically dissected monkey mfERG responses. Thus, the estimations of the contributions of the retinal layers to the mfERG so produced appeared plausible.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"145 1","pages":"1-10"},"PeriodicalIF":1.4,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9770218","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":"Abstracts of the 59th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV): Liverpool, 3-6 August, 2022.","authors":"","doi":"10.1007/s10633-022-09886-8","DOIUrl":"10.1007/s10633-022-09886-8","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"3-36"},"PeriodicalIF":1.4,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40625550","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}