Documenta Ophthalmologica最新文献

{"title":"Full-field electroretinogram recorded with skin electrodes in 6- to 12-year-old children.","authors":"Jiajun Wang, Yalan Wang, Weichen Guan, Yun-E Zhao","doi":"10.1007/s10633-023-09944-9","DOIUrl":"10.1007/s10633-023-09944-9","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the full-field electroretinogram (ffERG) parameters, including the light-adapted (LA) 3 ERG and the photopic negative response (PhNR), in 6- to 12-year-old children.</p><p><strong>Methods: </strong>ffERG data were obtained from 214 eyes of 214 healthy subjects. The amplitudes and peak time of the ffERG responses were obtained from children divided into 6- to 8-year-old and 9- to 12-year-old groups. Using a skin electrode, electrical signals were measured in response to white stimulating light and white background light (LA 3 ERG). A blue background light and red flashes were then used to elicit the PhNR.</p><p><strong>Results: </strong>The a-wave amplitude ranged from 0.40 to 9.20 μV, the b-wave ranged from 4.70 to 30.80 μV, and the PhNR ranged from 1.30 to 39.90 μV. The b-wave peak time (33.20 ms) of 6- to 8-year-old groups was slightly shorter than that of the 9- to 12-year-old groups (33.60 ms, P = 0.01), but no differences in amplitudes or in peak time of other components. There were significant correlations between the amplitudes (a-wave and b-wave: r = 0.43, p < 0.001; a-wave and PhNR: r = 0.25, p < 0.001; b-wave and PhNR: r = 0.45, p < 0.001). There was a moderate correlation between the a-wave and b-wave peak time (r = 0.31, P < 0.001).</p><p><strong>Conclusions: </strong>We determined the largest dataset of the LA 3 ERG and PhNR parameters in a population of healthy children, aged 6-12 years, which may provide a useful reference value when evaluating children with potential retinal defects.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"179-188"},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10278229","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":"ISCEV standard pattern reversal VEP development: paediatric reference limits from 649 healthy subjects.","authors":"Dorothy A Thompson, Eszter Mikó-Baráth, Sharon E Hardy, Gábor Jandó, Martin Shaw, Ruth Hamilton","doi":"10.1007/s10633-023-09952-9","DOIUrl":"10.1007/s10633-023-09952-9","url":null,"abstract":"<p><strong>Purpose: </strong>To establish the extent of agreement for ISCEV standard reference pattern reversal VEPs (prVEPs) acquired at three European centres, to determine any effect of sex, and to establish reference intervals from birth to adolescence.</p><p><strong>Methods: </strong>PrVEPs were recorded from healthy reference infants and children, aged 2 weeks to 16 years, from three centres using closely matched but non-identical protocols. Amplitudes and peak times were modelled with orthogonal quadratic and sigmoidal curves, respectively, and two-sided limits, 2.5th and 97.5th centiles, estimated using nonlinear quantile Bayesian regression. Data were compared by centre and by sex using median quantile confidence intervals. The 'critical age', i.e. age at which P100 peak time ceased to shorten, was calculated.</p><p><strong>Results: </strong>Data from the three centres were adequately comparable. Sex differences were not clinically meaningful. The pooled data showed rapid drops in P100 peak time which stabilised by 27 and by 34 weeks for large and small check widths, respectively. Post-critical-age reference limits were 87-115 ms and 96-131 ms for large and small check widths, respectively. Amplitudes varied markedly and reference limits for all ages were 5-57 μV and 3.5-56 μV for large and small check widths, respectively.</p><p><strong>Conclusions: </strong>PrVEP reference data could be combined despite some methodology differences within the tolerances of the ISCEV VEP Standard, supporting the clinical benefit of ISCEV Standards. Comparison with historical data is hampered by lack of minimum reporting guidelines. The reference data presented here could be validated or transformed for use elsewhere.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"147-164"},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.","authors":"Mohamed M Sylla, Masha Kolesinkova, Bruna Lopes da Costa, Irene H Maumenee, Stephen H Tsang, Peter M J Quinn","doi":"10.1007/s10633-023-09951-w","DOIUrl":"10.1007/s10633-023-09951-w","url":null,"abstract":"<p><strong>Introduction: </strong>Leber Congenital Amaurosis (LCA) is an inherited retinal disease that presents in infancy with severely decreased vision, nystagmus, and extinguished electroretinography findings. LCA8 is linked to variants in the Crumbs homolog 1 (CRB1) gene.</p><p><strong>Case description: </strong>We report a novel CRB1 variant in a 14-year-old male presenting with nystagmus, worsening vision, and inability to fixate on toys in his infancy. Color fundus photography revealed nummular pigments in the macula and periphery. Imaging studies revealed thickened retina on standard domain optical coherence tomography and widespread atrophy of the retinal pigment epithelium on autofluorescence. Full-field electroretinography revealed extinguished scotopic and significantly reduced photopic responses. Genetic testing demonstrated a novel homozygous variant, c.3057 T > A; p.(Tyr1019Ter), in the CRB1 gene. This variant is not currently amenable to base editing, however, in silico analysis revealed several potential prime editing strategies for correction.</p><p><strong>Conclusion: </strong>This case presentation is consistent with LCA8, suggesting pathogenicity of this novel variant and expanding our knowledge of disease-causing CRB1 variants.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"217-224"},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11149456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41105963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population.","authors":"Shaun M Leo, Magella M Neveu, Patrick Yu-Wai-Man, Omar A Mahroo, Anthony G Robson","doi":"10.1007/s10633-023-09956-5","DOIUrl":"10.1007/s10633-023-09956-5","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the diagnostic accuracy of the photopic negative response (PhNR) elicited by red-blue (RB) and white-white (WW) stimuli, for detection of retinal ganglion cell (RGC) dysfunction in a heterogeneous clinical cohort.</p><p><strong>Methods: </strong>Adults referred for electrophysiological investigations were recruited consecutively for this single-centre, prospective, paired diagnostic accuracy study. PhNRs were recorded to red flashes (1.5 cd·s·m^-2) on a blue background (10 cd·m^-2) and to white flashes on a white background (the latter being the ISCEV standard LA 3 stimulus). PhNR results were compared with a reference test battery assessing RGC/optic nerve structure and function including optical coherence tomography (OCT) retinal nerve fibre layer thickness and mean RGC volume measurements, fundus photography, pattern electroretinography and visual evoked potentials. Primary outcome measures were differences in sensitivity and specificity of the two PhNR methods.</p><p><strong>Results: </strong>Two hundred and forty-three participants were initially enrolled, with 200 (median age 54; range 18-95; female 65%) meeting inclusion criteria. Sensitivity was 53% (95% confidence intervals [CI] 39% to 68%) and 62% (95% CI 48% to 76%), for WW and RB PhNRs, respectively. Specificity was 80% (95% CI 74% to 86%) and 78% (95% CI 72% to 85%), respectively. There was a statistically significant difference between sensitivities (p = 0.046) but not specificities (p = 0.08) of the two methods. Receiver operator characteristic (ROC) area under the curve (AUC) values were 0.73 for WW and 0.74 for RB PhNRs.</p><p><strong>Conclusion: </strong>PhNRs to red flashes on a blue background may be more sensitive than white-on-white stimuli, but there is no significant difference between specificities. This study highlights the value and potential convenience of using white-on-white stimuli, already used widely for routine ERG assessment.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"165-177"},"PeriodicalIF":2.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54228200","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":"An early onset cone dystrophy due to CEP290 mutation: a case report.","authors":"Anastasia Binder, Susanne Kohl, Ute Grasshoff, Karin Schäferhoff, Katarina Stingl","doi":"10.1007/s10633-023-09940-z","DOIUrl":"10.1007/s10633-023-09940-z","url":null,"abstract":"<p><strong>Purpose: </strong>Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of achromatopsia or slowly progressing cone dystrophy.</p><p><strong>Methods: </strong>We present 13 years of follow-up of a female patient who presented first with symptoms and findings typical for achromatopsia. The patient underwent functional and morphologic examinations, including fundus autofluorescence imaging, spectral-domain optical coherence tomography, electroretinography, color vision and visual field testing.</p><p><strong>Results: </strong>Diagnostic genetic testing via whole genome sequencing and virtual inherited retinal disease gene panel evaluation finally identified two compound heterozygous variants c.4452_4455del;p.(Lys1484Asnfs*4) and c.2414T > C;p.(Leu805Pro) in the CEP290 gene.</p><p><strong>Conclusions: </strong>CEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"203-209"},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10103235","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":"Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.","authors":"Xing Wei, Tian Zhu, Lei Wang, Ruifang Sui","doi":"10.1007/s10633-023-09953-8","DOIUrl":"10.1007/s10633-023-09953-8","url":null,"abstract":"<p><strong>Purpose: </strong>Autoimmune polyglandular syndrome Type 1 (APS-1) is a rare autosomal recessive disorder caused by defects in the autoimmune regulator (AIRE) gene. Patients are generally diagnosed at ages between five and fifteen years when they exhibit three or more manifestations, most typically mucocutaneous candidiasis, autoimmune Addison's disease, and hypoparathyroidism. Our study aims to report the first case of a Chinese APS-1 patient, presented with LCA as the initial and essential clinical feature of this rare syndrome.</p><p><strong>Methods: </strong>Detailed medical and family history were recorded for the patient. Also, the comprehensive ophthalmological examinations were conducted. Whole exome sequencing (WES) was applied to screen pathogenic variants. Sanger sequencing validation and segregation analysis were further performed for confirmation.</p><p><strong>Results: </strong>A 3-year-old boy with severely impaired vision and initially referred as LCA. However, with a detailed history review, oral candidiasis, dental enamel hypoplasia, and nail candida infection were revealed. Moreover, genetic analysis revealed the homozygous c.769C>T (p.R257X) in AIRE gene (NM_000383.3) as the causative variant.</p><p><strong>Conclusion: </strong>We presented one case diagnosed with APS-1 based on clinical characteristics and genetic analysis. Our study demonstrated that LCA could serve as a warning sign for APS-1 and a potential trigger of early screening, which might prevent life-threatening complications.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"225-232"},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10261219","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 mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.","authors":"Takaaki Hayashi,&nbsp;Kei Mizobuchi,&nbsp;Shuhei Kameya,&nbsp;Shinji Ueno,&nbsp;Tomokazu Matsuura,&nbsp;Tadashi Nakano","doi":"10.1007/s10633-023-09936-9","DOIUrl":"https://doi.org/10.1007/s10633-023-09936-9","url":null,"abstract":"<p><strong>Purpose: </strong>Biallelic variants in POC1B are rare causes of autosomal recessive cone dystrophy associated with generalized cone system dysfunction. In this report, we describe the clinical characteristics of a Japanese male patient with POC1B-associated retinopathy with relatively preserved cone system function.</p><p><strong>Methods: </strong>We performed whole-exome sequencing (WES) to identify the disease-causing variants and a comprehensive ophthalmic examination, including full-field and multifocal electroretinography (ffERG and mfERG).</p><p><strong>Results: </strong>Our WES analysis identified novel compound heterozygous POC1B variants (p.Arg106Gln and p.Arg452Ter) in the patient. His unaffected mother carried the p.Arg452Ter variant heterozygously. The patient experienced decreased visual acuity in his 50s. At the age of 63, his corrected visual acuity was 20/22 in the right and 20/20 in the left eye. Fundus and fundus autofluorescence images for each eye showed no remarkable finding, except for a subtle hyperautofluorescent spot in the fovea of the left eye. Cross-sectional optical coherence tomography demonstrated blurred but a relatively preserved ellipsoid zone. The ffERG showed that amplitudes of rod and standard-flash responses were within the reference range, whereas the cone and light-adapted 30-Hz flicker amplitudes were close to, or slightly below, the reference range. The mfERG revealed substantially reduced responses with relative preservation of central function.</p><p><strong>Conclusions: </strong>We reported the case of an older patient with POC1B-associated retinopathy, demonstrating late-onset visual decrease, good visual acuity, and relatively preserved cone system function. The disease condition was much milder than previously reported in patients with POC1B-associated retinopathy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"147 1","pages":"59-70"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9785374","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":"Age-associated changes in electroretinography measures in companion dogs.","authors":"Michele M Salzman, Natascha Merten, Wojciech K Panek, Gilad Fefer, Alejandra Mondino, Hans D Westermeyer, Margaret E Gruen, Natasha J Olby, Freya M Mowat","doi":"10.1007/s10633-023-09938-7","DOIUrl":"10.1007/s10633-023-09938-7","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the association between age and retinal full-field electroretinographic (ERG) measures in companion (pet) dogs, an important translational model species for human neurologic aging.</p><p><strong>Methods: </strong>Healthy adult dogs with no significant ophthalmic abnormalities were included. Unilateral full-field light- and dark-adapted electroretinography was performed using a handheld device, with mydriasis and topical anaesthesia. Partial least squares effect screening analysis was performed to determine the effect of age, sex, body weight and use of anxiolytic medication on log-transformed ERG peak times and amplitudes; age and anxiolytic usage had significant effects on multiple ERG outcomes. Mixed model analysis was performed on data from dogs not receiving anxiolytic medications.</p><p><strong>Results: </strong>In dogs not receiving anxiolytics, median age was 118 months (interquartile range 72-140 months, n = 77, 44 purebred, 33 mixed breed dogs). Age was significantly associated with prolonged peak times of a-waves (dark-adapted 3 and 10 cds/m² flash p < 0.0001) and b-waves (cone flicker p = 0.03, dark-adapted 0.01 cds/m² flash p = 0.001). Age was also significantly associated with reduced amplitudes of a-waves (dark-adapted 3 cds/m² flash p < 0.0001, 10 cds/m² flash p = 0.005) and b-waves (light-adapted 3 cds/m² flash p < 0.0001, dark-adapted 0.01 cds/m² flash p = 0.0004, 3 cds/m² flash p < 0.0001, 10 cds/m² flash p = 0.007) and flicker (light-adapted 30 Hz 3 cds/m² p = 0.0004). Within the Golden Retriever breed, these trends were matched in a cross-sectional analysis of 6 individuals that received no anxiolytic medication.</p><p><strong>Conclusions: </strong>Aged companion dogs have slower and reduced amplitude responses in both rod- and cone-mediated ERG. Consideration of anxiolytic medication use should be made when conducting ERG studies in dogs.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"147 1","pages":"15-28"},"PeriodicalIF":2.6,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10330826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9787579","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":"Long-term blue light rearing does not affect in vivo retinal function in young rhesus monkeys.","authors":"Linjiang Lou,&nbsp;Laura J Frishman,&nbsp;Krista M Beach,&nbsp;Lakshmi Rajagopalan,&nbsp;Li-Fang Hung,&nbsp;Zhihui She,&nbsp;Earl L Smith,&nbsp;Lisa A Ostrin","doi":"10.1007/s10633-023-09931-0","DOIUrl":"https://doi.org/10.1007/s10633-023-09931-0","url":null,"abstract":"<p><strong>Purpose: </strong>Exposure to blue light is thought to be harmful to the retina. The purpose of this study was to determine the effects of long-term exposure to narrowband blue light on retinal function in rhesus monkeys.</p><p><strong>Methods: </strong>Young rhesus monkeys were reared under short-wavelength \"blue\" light (n = 7; 465 nm, 183 ± 28 lx) on a 12-h light/dark cycle starting at 26 ± 2 days of age. Age-matched control monkeys were reared under broadband \"white\" light (n = 8; 504 ± 168 lx). Light- and dark-adapted full-field flash electroretinograms (ERGs) were recorded at 330 ± 9 days of age. Photopic stimuli were brief red flashes (0.044-5.68 cd.s/m²) on a rod-saturating blue background and the International Society for Clinical Electrophysiology of Vision (ISCEV) standard 3.0 white flash on a 30 cd/m² white background. Monkeys were dark adapted for 20 min and scotopic stimuli were ISCEV standard white flashes of 0.01, 3.0, and 10 cd.s/m². A-wave, b-wave, and photopic negative response (PhNR) amplitudes were measured. Light-adapted ERGs in young monkeys were compared to ERGs in adult monkeys reared in white light (n = 10; 4.91 ± 0.88 years of age).</p><p><strong>Results: </strong>For red flashes on a blue background, there were no significant differences in a-wave (P = 0.46), b-wave (P = 0.75), and PhNR amplitudes (P = 0.94) between white light and blue light reared monkeys for all stimulus energies. ISCEV standard light- and dark-adapted a- and b-wave amplitudes were not significantly different between groups (P > 0.05 for all). There were no significant differences in a- and b-wave implicit times between groups for all ISCEV standard stimuli (P > 0.05 for all). PhNR amplitudes of young monkeys were significantly smaller compared to adult monkeys for all stimulus energies (P < 0.05 for all). There were no significant differences in a-wave (P = 0.19) and b-wave (P = 0.17) amplitudes between young and adult white light reared monkeys.</p><p><strong>Conclusions: </strong>Long-term exposure to narrowband blue light did not affect photopic or scotopic ERG responses in young monkeys. Findings suggest that exposure to 12 h of daily blue light for approximately 10 months does not result in altered retinal function.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"147 1","pages":"45-57"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10148015","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":"Pediatric abusive head trauma: visual outcomes, evoked potentials, diffusion tensor imaging, and relationships to retinal hemorrhages.","authors":"John P Kelly,&nbsp;Kenneth W Feldman,&nbsp;Jason N Wright,&nbsp;James B Metz,&nbsp;Avery Weiss","doi":"10.1007/s10633-023-09927-w","DOIUrl":"https://doi.org/10.1007/s10633-023-09927-w","url":null,"abstract":"<p><strong>Purpose: </strong>Function and anatomy of the visual system were evaluated in children with abusive head trauma (AHT). The relationships between retinal hemorrhages at presentation were examined with outcome measures.</p><p><strong>Methods: </strong>Retrospective review of data in children with AHT for 1) visual acuity at last follow-up, 2) visual evoked potentials (VEP) after recovery, 3) diffusion metrics of white matter tracts and grey matter within the occipital lobe on diffusion tensor imaging (DTI), and 4) patterns of retinal hemorrhages at presentation. Visual acuity was converted into logarithm of minimum angle of resolution (logMAR) after correction for age. VEPs were also scored by objective signal-to-noise ratio (SNR).</p><p><strong>Results: </strong>Of 202 AHT victims reviewed, 45 met inclusion criteria. Median logMAR was reduced to 0.8 (approximately 20/125 Snellen equivalent), with 27% having no measurable vision. Thirty-two percent of subjects had no detectable VEP signal. VEPs were significantly reduced in subjects initially presenting with traumatic retinoschisis or hemorrhages involving the macula (p < 0.01). DTI tract volumes were decreased in AHT subjects compared to controls (p < 0.001). DTI metrics were most affected in AHT victims showing macular abnormalities on follow-up ocular examination. However, DTI metrics were not correlated with visual acuity or VEPS. There was large inter-subject variability within each grouping.</p><p><strong>Discussion: </strong>Mechanisms causing traumatic retinoschisis, or traumatic abnormalities of the macula, are associated with significant long-term visual pathway dysfunction. AHT associated abnormalities of the macula, and visual cortical pathways were more fully captured by VEPs than visual acuity or DTI metrics.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"147 1","pages":"1-14"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9791246","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}