Documenta Ophthalmologica最新文献

{"title":"Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).","authors":"Kei Mizobuchi,&nbsp;Takaaki Hayashi,&nbsp;Ryo Ohira,&nbsp;Tadashi Nakano","doi":"10.1007/s10633-023-09935-w","DOIUrl":"https://doi.org/10.1007/s10633-023-09935-w","url":null,"abstract":"<p><strong>Purpose: </strong>Alport syndrome comprises a heterogeneous group of inherited kidney diseases that are associated with ocular complications. In this study, we aimed to detail the clinical characteristics of a patient with X-linked Alport syndrome.</p><p><strong>Methods: </strong>We performed next-generation sequencing (NGS) with hybridization capture to identify the disease-causing variant of Alport syndrome and a comprehensive ophthalmic examination, including full-field electroretinography (FF-ERG).</p><p><strong>Results: </strong>Genetic testing using NGS with hybridization capture revealed a novel hemizygous variant [c.51_52delGA (p.Trp20GlyfsTer19)] in exon 1 of COL4A5. The patient underwent cataract surgery in both eyes because of decreased visual acuity and photophobia. The best-corrected visual acuity improved from 0.9 and 0.7 in the right and left eyes, respectively, to 1.5 in both eyes. Anterior-segment optical coherence tomography (OCT) revealed anterior and posterior lenticonus. Fundus photographs showed central and peripheral fleck retinopathy. Wide-field fundus autofluorescence (AF) imaging showed mottled hyper- and hypo-AF in the peripheral retina, which was consistent with peripheral fleck retinopathy. Furthermore, OCT revealed thinning of the inner retinal layers, especially at the temporal macular, but the outer retinal layers were preserved. Ganglion cell analysis showed no progression for 5 years. FF-ERG was performed at 41 (phakia) and 46 (pseudophakia) years of age. The amplitudes of dark-adapted (DA) and light-adapted (LA) responses showed selective b-wave abnormalities. The b/a-wave ratios of DA 3.0 were 1.22 and 1.16 in the right and left eyes, respectively. The amplitudes of DA 3.0 oscillatory potentials (OP) were reduced. Five years later, the amplitudes of DA and LA responses revealed no remarkable changes, except for an OP wave of DA 3.0, which was substantially reduced.</p><p><strong>Conclusions: </strong>Our findings revealed electroretinographic abnormalities in a patient with Alport syndrome, which predominantly indicated impairment of the inner retina. Notably, little short-term progression was observed.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"281-291"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9684039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.","authors":"Megan Soucy,&nbsp;Masha Kolesnikova,&nbsp;Angela H Kim,&nbsp;Stephen H Tsang","doi":"10.1007/s10633-022-09916-5","DOIUrl":"https://doi.org/10.1007/s10633-022-09916-5","url":null,"abstract":"<p><strong>Introduction: </strong>Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We describe a novel presentation of the c.623G > A; p.(Gly208Asp) variant in association with cone-rod dystrophy and reduced penetrance.</p><p><strong>Case description: </strong>A 39-year-old man presents with a history of decreased visual acuity, photophobia, and dyschromatopsia. Fundus examination was largely unremarkable while spectral-domain optical coherence tomography (SD-OCT) demonstrated diffuse granularity at the ellipsoid zone. Full-field electroretinogram (ffERG) revealed a cone-rod dystrophy. Genetic testing revealed a heterozygous pathogenic variant, c.623G > A; p.(Gly208Asp), in the PRPH2 gene, also found in an unaffected brother. The 50-year-old brother had no visual symptoms and no findings on fundus examination. SD-OCT showed normal retinal architecture and ffERG was within normal limits bilaterally.</p><p><strong>Conclusion: </strong>This case report broadens the known phenotypic presentations of PRPH2-associated retinopathy and suggests that the PRPH2 variant c.623G > A; p.(Gly208Asp) may be associated with reduced penetrance.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"267-272"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9602999","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":"Evaluation of correlation between Diopsys® NOVA™ fixed-luminance flicker ERG and Diagnosys® Espion 2™ flicker ERG parameters.","authors":"Jonathan Regenold,&nbsp;Hien Luong Doan,&nbsp;Hashem Ghoraba,&nbsp;Hassan Khojasteh,&nbsp;Jaclyn Joyce Jaclyn Hwang,&nbsp;Negin Yavari,&nbsp;Amir Akhavanrezayat,&nbsp;Ngoc Trong Tuong Than,&nbsp;Anthony Huy Dinh Le,&nbsp;Muhammad Sohail Halim,&nbsp;Quan Dong Nguyen","doi":"10.1007/s10633-023-09934-x","DOIUrl":"https://doi.org/10.1007/s10633-023-09934-x","url":null,"abstract":"<p><strong>Purpose: </strong>Diopsys® NOVA™ is a novel full-field electroretinography (ffERG) device that can make rapid measurements of retinal electrophysiologic function. Diagnosys® Espion 2™ is a clinical gold-standard ERG device. This study aimed to investigate whether light-adapted Diopsys® NOVA™ fixed-luminance flicker ffERG magnitude and implicit time (converted from phase) measurements correlate with light-adapted Diagnosys® Espion 2™ flicker ffERG amplitude and implicit time measurements, respectively.</p><p><strong>Methods: </strong>Twelve patients (22 eyes) with various retinal and uveitic diseases underwent light-adapted Diagnosys® Espion 2™ and Diopsys® NOVA™ fixed-luminance flicker testing. Diopsys® magnitude and implicit time (converted from phase) measurements were compared to Diagnosys® amplitude and implicit time measurements, and a Pearson correlation was used to evaluate any existing correlation. Groups were also compared using generalized estimating equations. Bland-Altman plots were utilized to determine agreement between the comparison groups.</p><p><strong>Results: </strong>Age of patients ranged from 14 to 87 years. 58% (n = 7/12) of patients were female. A significant, positive correlation (r = 0.880, P < 0.001) was observed between magnitude (Diopsys®) and amplitude (Diagnosys®) measurements. Amplitude increases by 6.69 µV for each 1 µV increase in Magnitude (p-value < 0.001). A statistically significant, strong positive correlation was observed between Diopsys® implicit time measurements (converted from phase) and Diagnosys® implicit time measurements (r = 0.814, p-value < 0.001). For each 1 ms increase in Diopsys® implicit time, Diagnosys® implicit time increases by 1.13 ms (p-value < 0.001).</p><p><strong>Conclusions: </strong>There is a statistically significant positive correlation between light-adapted Diopsys® NOVA™ fixed-luminance flicker amplitude and Diagnosys® flicker magnitude values. Additionally, there is a statistically significant positive correlation between Diopsys® NOVA™ fixed-luminance flicker implicit time (converted from phase) and Diagnosys® flicker implicit time values. These results imply that the Diopsys® NOVA™ module, which utilizes the nonstandard shortened International Society for Clinical Electrophysiology of Vision (ISCEV) ERG protocol, can produce reliable light-adapted flicker ffERG measurements.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"257-266"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9598792","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":"Multifocal electroretinography increases following experimental glaucoma in nonhuman primates with retinal ganglion cell axotomy.","authors":"T Michael Nork, Charlene B Y Kim, Alexander W Katz, Carol A Rasmussen, Mark Banghart, James N Ver Hoeve","doi":"10.1007/s10633-023-09922-1","DOIUrl":"10.1007/s10633-023-09922-1","url":null,"abstract":"<p><strong>Purpose: </strong>To determine whether short-latency changes in multifocal electroretinography (mfERG) observed in experimental glaucoma (EG) are secondary solely to retinal ganglion cell (RGC) loss or whether there is a separate contribution from elevated intraocular pressure (IOP).</p><p><strong>Methods: </strong>Prior to operative procedures, a series of baseline mfERGs were recorded from six rhesus macaques using a 241-element unstretched stimulus. Animals then underwent hemiretinal endodiathermy axotomy (HEA) by placing burns along the inferior 180° of the optic nerve margin in the right eye (OD). mfERG recordings were obtained in each animal at regular intervals following for 3-4 months to allow stabilization of the HEA effects. Laser trabecular meshwork destruction (LTD) to elevate IOP was then performed; first-order kernel (K1) waveform root-mean-square (RMS) amplitudes for the short-latency segment of the mfERG wave (9-35 ms) were computed for two 7-hexagon groupings-the first located within the superior (non-axotomized) macula and the second within the inferior (axotomized) macula. Immunohistochemistry for glial fibrillary acidic protein (GFAP) was done.</p><p><strong>Results: </strong>By 3 months post HEA, there was marked thinning of the inferior nerve fiber layer as measured by optical coherence tomography. Compared with baseline, no statistically significant changes in 9-35 ms K1 RMS amplitudes were evident in either the axotomized or non-axotomized portions of the macula. Following LTD, mean IOP in HEA eyes rose to 46 ± 9 compared with 20 ± 2 mmHg (SD) in the fellow control eyes. In the HEA + EG eyes, statistically significant increases in K1 RMS amplitude were present in both the axotomized inferior and non-axotomized superior portions of the OD retinas. No changes in K1 RMS amplitude were found in the fellow control eyes from baseline to HEA epoch, but there was a smaller increase from baseline to HEA + EG. Upregulation of GFAP in the Müller cells was evident in both non-axotomized and axotomized retina in eyes with elevated IOP.</p><p><strong>Conclusions: </strong>The RMS amplitudes of the short-latency mfERG K1 waveforms are not altered following axotomy but undergo marked increases following elevated IOP. This suggests that the increase in mfERG amplitude was not solely a result of RGC loss and may reflect photoreceptor and bipolar cell dysfunction and/or changes in Müller cells.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 2","pages":"97-112"},"PeriodicalIF":2.6,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10284020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9705376","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":"Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency.","authors":"Austin Pereira,&nbsp;Birgit Ertl-Wagner,&nbsp;Anupreet Tumber,&nbsp;Ajoy Vincent,&nbsp;Michael J Wan","doi":"10.1007/s10633-022-09918-3","DOIUrl":"https://doi.org/10.1007/s10633-022-09918-3","url":null,"abstract":"<p><strong>Purpose: </strong>Vitamin A plays a crucial role in rod phototransduction, with deficient levels manifesting as night blindness. Animal models have demonstrated bone dysplasia in the setting of hypovitaminosis A. We present a rare case of bony overgrowth leading to bilateral compressive optic neuropathy, combined with outer retinopathy, in a paediatric patient secondary to isolated vitamin A deficiency.</p><p><strong>Methods: </strong>A single case report was conducted from Toronto, Canada.</p><p><strong>Results: </strong>A 12-year-old boy with known autism spectrum disorder presented with a 9-month history of progressive painless vision loss. Vision was 20/300 and hand motion in the right and left eye, respectively. Fundus photography demonstrated bilateral optic atrophy and yellow lesions notably in the right eye far periphery. Optical coherence tomography (OCT) imaging demonstrated thinning of the retinal nerve fibre layer, alterations in the ellipsoid zone, as well as retinal pigment epithelium deposits. Computed tomography imaging demonstrated sphenoid bone thickening with narrow optic canals and moderate optic atrophy bilaterally. Full-field electroretinogram (ERG) demonstrated mildly reduced dark adapted (DA) 0.01 b-wave amplitudes and electronegative configuration of DA 3.0 and DA 10.0 ERG; the light adapted ERGs were normal. The patient was treated with pulse vitamin A therapy. Subsequently, the DA ERG normalized, outer retinal changes reversed and vision stabilised; no surgical intervention was conducted.</p><p><strong>Conclusion: </strong>This case represents a rare presentation of compressive optic neuropathy with concomitant outer retinopathy secondary to isolated vitamin A deficiency. Despite improvement in outer retinal integrity on OCT imaging and ERG testing results following vitamin A supplementation, no functional improvement was obtained due to severe optic atrophy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 2","pages":"173-180"},"PeriodicalIF":1.4,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9311591","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":"Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.","authors":"Tamaki Morohashi,&nbsp;Takaaki Hayashi,&nbsp;Kei Mizobuchi,&nbsp;Tadashi Nakano,&nbsp;Ichiro Morioka","doi":"10.1007/s10633-022-09915-6","DOIUrl":"https://doi.org/10.1007/s10633-022-09915-6","url":null,"abstract":"<p><strong>Background: </strong>Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central obesity, polydactyly, cognitive impairment, hypogonadism and/or genitourinary malformations, and kidney abnormalities. At least 21 genes associated with BBS have been reported. To date, BBS associated with BBS12 variants has never been described in the Japanese population. We report a Japanese infant female with BBS with compound heterozygous BBS12 variants.</p><p><strong>Methods: </strong>In addition to the pediatric examination, fundus photography, full-field electroretinogram(ffERG) and whole exome sequencing (WES) were underwent.</p><p><strong>Results: </strong>The infant exhibited obesity, polydactyly, cognitive impairment, genitourinary malformations, and kidney dysfunction. At the age of 2 years, ffERG revealed severe reduction in both rod- and cone-mediated electroretinographic responses consistent with a severe form of rod-cone dystrophy, with minimal retinal abnormalities. WES revealed novel compound heterozygous BBS12 variants (c.591T > A, p.Tyr197* and c.1372dupA, p.Thr458Asnfs*5) in the infant. Her parents carried each of the variants, as confirmed by Sanger sequencing.</p><p><strong>Conclusions: </strong>The current observations will contribute to an expanded understanding of genotype-phenotype associations in BBS12-associated BBS.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 2","pages":"165-171"},"PeriodicalIF":1.4,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9304938","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":"Occult retinopathy following treatment of Hepatitis C with glecaprevir/pibrentasvir (Mavyret).","authors":"Michael T Massengill,&nbsp;Jason C Park,&nbsp;J Jason McAnany,&nbsp;Robert A Hyde","doi":"10.1007/s10633-023-09923-0","DOIUrl":"https://doi.org/10.1007/s10633-023-09923-0","url":null,"abstract":"<p><strong>Background/purpose: </strong>Medication-induced ocular toxicity is an important consideration in the differential diagnosis of unexplained visual disturbance. We present a case of visual disturbance after starting treatment with glecaprevir/pibrentasvir (Mavyret), a therapy for Hepatitis C virus approved by the FDA in 2017.</p><p><strong>Methods: </strong>A 50-year-old male with no significant ocular history experienced bilateral visual disturbance, including visual field and acuity loss, shortly after initiating treatment with Mavyret for Hepatitis C. Examination of the anterior and posterior segments was unremarkable, and no abnormalities could be identified on multimodal imaging of the eye and brain, including MRI, SD-OCT, and fundus autofluorescence. Extensive testing for inflammatory, infectious, nutritional, and genetic etiologies for optic neuropathy and retinopathy was negative.</p><p><strong>Results: </strong>Electrophysiology testing was pursued to narrow the broad differential diagnosis. Full-field electroretinography and multi-focal electroretinography detected deficiencies in the rod and cone visual pathways and attenuated electrophysiologic responses in the fovea. Pattern electroretinography and visually-evoked potentials demonstrated macula dysfunction. Taken together, electrophysiologic data suggested diffuse retinal dysfunction, which was most pronounced in the macula.</p><p><strong>Conclusions: </strong>Given the temporal relationship between Mavyret administration and vision loss in our patient, and the absence of an underlying cause after extensive evaluation, we propose that Mavyret may be associated with a toxic occult retinopathy characterized by panretinal dysfunction without clinically apparent structural findings.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 2","pages":"191-197"},"PeriodicalIF":1.4,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9312748","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":"Comparing the RETeval^® portable ERG device with more traditional tabletop ERG systems in normal subjects and selected retinopathies.","authors":"Jia Yue You,&nbsp;Allison L Dorfman,&nbsp;Mathieu Gauvin,&nbsp;Dylan Vatcher,&nbsp;Robert C Polomeno,&nbsp;John M Little,&nbsp;Pierre Lachapelle","doi":"10.1007/s10633-022-09903-w","DOIUrl":"https://doi.org/10.1007/s10633-022-09903-w","url":null,"abstract":"<p><strong>Purpose: </strong>Our study aimed to determine if ISCEV standard-like ERGs recorded with the LKC RETeval^® portable ERG unit compared to those obtained using the more traditional tabletop unit.</p><p><strong>Methods: </strong>ERGs recorded from normal subjects and patients affected with retinal ON and OFF pathway anomalies were compared. Analysis included peak time and amplitude measurements as well as time-frequency domain analysis with the discrete wavelet transform of waveforms obtained with the two systems.</p><p><strong>Results: </strong>Although both systems were similarly able to record reliable and highly reproducible ERG responses, there were major discrepancies in ERG responses between the portable and tabletop units, pointing toward a weaker stimulation of the retinal OFF pathway with the portable RETeval^® unit.</p><p><strong>Conclusion: </strong>The portable RETeval^® unit appears to be able to record highly reproducible and diagnostically useful clinical ERGs, albeit with some significant differences in waveform composition compared to those obtained with more standard tabletop systems. Given the unknown origin of these waveform discrepancies, if left uncorrected, these differences could potentially lead to erroneous interpretation when used in the clinical context and/or compared to ERGs recorded using more traditional table top units. Clearly, more research is warranted before handheld devices, such as the RETeval^®, can be homologated as a diagnostically sound ERG devices.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 2","pages":"137-150"},"PeriodicalIF":1.4,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9304454","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 role of visual electrodiagnostics in management of children with neurofibromatosis type 1.","authors":"Manca Tekavčič Pompe,&nbsp;Nuška Pečarič Meglič,&nbsp;Maja Šuštar Habjan","doi":"10.1007/s10633-023-09920-3","DOIUrl":"https://doi.org/10.1007/s10633-023-09920-3","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the role of visual electrodiagnostic testing in children with neurofibromatosis type 1 (NF1) despite improved accessibility to magnetic resonance imaging (MRI).</p><p><strong>Methods: </strong>The records from 39 children (78 eyes, 15 boys, 24 girls, average age at last visit of 11.5 ± 4.3 years, average follow-up time of 7.8 ± 3.9 years) with genetically confirmed NF1 were retrospectively analysed. They all underwent a thorough ophthalmological investigation, including age-appropriate visual acuity testing, anterior segment evaluation for Lisch nodules and a dilated fundus examination. If children were cooperative enough, colour vision was tested using the Hardy-Rand-Rittler test, visual fields were evaluated with Goldmann perimetry. All performed MRI of the brain and orbits as part of the standard of care protocol. Visual electrodiagnostics included electroretinography (ERG) and visual evoked potentials (VEP) using a standard protocol in older children, whereas with less cooperative children a modified protocol according to the Great Ormond Street Hospital (GOSH protocol) was used.</p><p><strong>Results: </strong>The average visual acuity was 0.8 ± 0.3, colour vision was abnormal in 6%, perimetry in 8%, Lisch nodules were present in 62%, and the optic disc was pale in 66% of all eyes. Plexiform neurofibroma of the eyelid/orbit was present in 4%. Optic pathway glioma (OPG) was detected with MRI in 22 (57%) and in 6/22 treatment was indicated. Other intracranial NF1-related lesions were documented in 70% of children. VEP were abnormal in 16/39 of all children with NF1 (41%) comprising 14/22 (65%) of children with confirmed OPG and 2/17 (12%) of children without OPG. All full-field and pattern ERG responses were within normal limits. All individual VEP results are described and three cases from this cohort of children are presented in detail to illustrate the importance of VEP testing. In Case 1, VEP abnormality suggested subsequent MRI of the brain under general anaesthesia, which was otherwise contraindicated according to normal clinical findings and his young age. In Cases 2 and 3, VEP provided more precise functional information during the follow-up of OPG, while other psychophysical tests remained unchanged.</p><p><strong>Conclusions: </strong>Electrodiagnostics has multifactorial role and importance in children with NF1, either when visual pathway function is impaired in young children, even before MRI under general anaesthesia and other psychophysical tests can be performed, as well as for a more precise monitoring of the visual pathway function before potential treatment of OPG, or after it, to evaluate its success.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 2","pages":"121-136"},"PeriodicalIF":1.4,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9312896","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":"Macular function in patients with medium myopia.","authors":"Ewa Małgorzata Grudzińska,&nbsp;Wojciech Lubiński,&nbsp;Monika Modrzejewska","doi":"10.1007/s10633-022-09907-6","DOIUrl":"https://doi.org/10.1007/s10633-022-09907-6","url":null,"abstract":"<p><strong>Purpose: </strong>This work aims at assessing whether electrophysiological functional changes in the macular region appear in medium myopia, even in the presence of a normal macular OCT scan and how axial length correlates with macular OCT parameters in medium myopia.</p><p><strong>Methods: </strong>The study included right eyes of 17 patients with myopia of medium degree (SE <  - 6D to >  - 3D). Control group consisted of 20 eyes of patients of age and sex that matched healthy controls with normal macular and optic nerve OCT results and normal axial length. Full ophthalmic examination (the distance best-corrected visual acuity, intraocular pressure, refractive error, the anterior and posterior segment of the eye in a slit lamp, the axial length of the eyeball) with OCT of the macular and optic disk and the PERG test were performed in the study and control groups. Only the patients with normal ophthalmic and OCT examination results were qualified. The interview covering questions on risk factors of myopia onset and progression such as prematurity, family history of myopia was carried out in both groups. In myopic group, the question relating to time of near work was also asked. Study and control groups were tested with the use of Shapiro-Wilk, Mann-Whitney, Student's t test, Pearson and Spearman's rank correlation tests.</p><p><strong>Results: </strong>AL was significantly longer in myopia group (p < 0.01), and SE value was lower (p < 0.01). Longer implicit time of P50 was found in the study group, but amplitudes of P50 and N95 waves were not significantly reduced (p < 0.05). AL showed correlations with P50 implicit time (p < 0.05) and with reduction in retinal fiber nerve layer and ganglion cells and inner plexus layer (p < 0.05).</p><p><strong>Conclusion: </strong>Patients with myopia of medium degree have a dysfunction of retinal cone system of the macular region even when OCT scans show no abnormalities. Elongation of AL correlates with reduction in retinal fiber nerve layer and ganglion cells and inner plexus layer. Longitudinal follow-up studies may answer the question whether this increase in implicit time may be indicative of a faster myopia progression or of myopic retinal pathology, i.e., whether it may help to determine which patient would benefit from earlier or more intensive management of myopia progression.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 2","pages":"113-120"},"PeriodicalIF":1.4,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9871054","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}