Documenta Ophthalmologica最新文献

{"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}

{"title":"Assessment of the uniform field electroretinogram for mouse retinal ganglion cell functional analysis.","authors":"Pamela S Lagali,&nbsp;Ushananthini Shanmugalingam,&nbsp;Adam N Baker,&nbsp;Natalie Mezey,&nbsp;Patrice D Smith,&nbsp;Stuart G Coupland,&nbsp;Catherine Tsilfidis","doi":"10.1007/s10633-023-09933-y","DOIUrl":"https://doi.org/10.1007/s10633-023-09933-y","url":null,"abstract":"<p><strong>Purpose: </strong>The uniform field electroretinogram (UF-ERG) has been suggested as an alternative to the pattern electroretinogram (PERG) for non-invasive assessment of retinal ganglion cell (RGC) function in primates. We evaluated the validity of the UF-ERG to assess mouse RGC activity in vivo.</p><p><strong>Methods: </strong>Unilateral optic nerve crush (ONC) was performed on adult C57BL/6J mice. Contralateral eyes with uncrushed optic nerves and eyes from surgically naive mice served as experimental controls. Electrophysiological visual assessment was performed at 12 weeks post-ONC. Flash-mediated visual-evoked cortical potentials (VEPs) were measured to confirm the robustness of the ONC procedure. Full-field flash ERGs were used to interrogate photoreceptor and retinal bipolar cell function. RGC function was assessed with pattern ERGs. Summed onset and offset UF-ERG responses to alternating dark and light uniform field flash stimuli of different intensities and wavelengths were recorded from ONC and control eyes, and relative differences were compared to the PERG results. Following electrophysiological analysis, RGC loss was monitored by immunohistochemical staining of the RGC marker protein, RBPMS, in post-mortem retinal tissues.</p><p><strong>Results: </strong>ONC dramatically impacts RGC integrity and optic nerve function, demonstrated by reduced RGC counts and near complete elimination of VEPs. ONC did not affect scotopic ERG a-wave and b-wave amplitudes, while PERG amplitudes of eyes subjected to ONC were reduced by approximately 50% compared to controls. Summation of ON and OFF UF-ERG responses did not reveal statistically significant differences between ONC and control eyes, regardless of visual stimulus.</p><p><strong>Conclusions: </strong>PERG responses are markedly impaired upon ONC, while UF-ERG responses are not significantly affected by surgical trauma to RGC axons in mice. The more closely related pattern and uniform field ERGs recorded in primates suggests species-specific differences in RGC features or subpopulations corresponding to PERG and UF-ERG response generators, limiting the utility of the UF-ERG for mouse RGC functional analysis.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"147 1","pages":"29-43"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9791883","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":"Intravitreal acetazolamide implant for pseudophakic cystoid macular edema.","authors":"Rodrigo Jorge,&nbsp;Isabela Franco Villela,&nbsp;Christian Fernandes,&nbsp;Thais Marino de Azevedo Bastos,&nbsp;Ingrid U Scott,&nbsp;Armando da Silva Cunha,&nbsp;Silvia Ligório Fialho,&nbsp;Pedro Henrique Reis da Silva,&nbsp;André Messias","doi":"10.1007/s10633-023-09939-6","DOIUrl":"https://doi.org/10.1007/s10633-023-09939-6","url":null,"abstract":"<p><strong>Background: </strong>Pseudophakic cystoid macular edema (PCME) is the most common cause of visual acuity deterioration after uncomplicated cataract surgery. There is no consensus regarding how to manage recurrent or refractory cases.</p><p><strong>Report: </strong>A 54-year-old woman complained of decreased vision and central metamorphopsia in the right eye (OD) 3 months after uneventful cataract surgery. Visual acuity was 0.3 logMAR (20/40) OD and 0.1 logMAR (20/25) OS. Reduced macular brightness was seen OD on funduscopy associated with increased macular thickness on optical coherence tomography (OCT). Pseudophakic cystoid macular edema (PCME) was diagnosed, and treatment with oral acetazolamide was tried without success. The patient underwent a single intravitreal injection of an acetazolamide implant (260 μg) OD as off-label treatment. Four weeks following the injection, she reported complete resolution of her metamorphopsia and visual loss OD. Four months later, her visual acuity was 0.0 logMAR (20/20) in OD and 0.1 logMAR (20/25) in OS. The patient reported no discomfort after the injection procedure. Laboratory and ophthalmologic tests did not identify any adverse effects of the medication.</p><p><strong>Conclusion: </strong>We show that PCME refractory to conventional treatment improved after intravitreal acetazolamide implant injection. Further investigation is warranted to confirm these preliminary findings.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"147 1","pages":"71-75"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9803100","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":"Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.","authors":"Dhimas H Sakti, Elisa E Cornish, Clare L Fraser, Benjamin M Nash, Trent M Sandercoe, Michael M Jones, Neil A Rowe, Robyn V Jamieson, Alexandra M Johnson, John R Grigg","doi":"10.1007/s10633-023-09930-1","DOIUrl":"10.1007/s10633-023-09930-1","url":null,"abstract":"<p><strong>Background: </strong>Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficult. This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy.</p><p><strong>Methods: </strong>Retrospective review of 5 confirmed CLN3 patients in our eye clinic. Best corrected visual acuity (BCVA), electroretinogram (ERG), ultra-widefield (UWF) fundus photography and fundus autofluorescence (FAF), and optical coherence tomography (OCT) studies were undertaken.</p><p><strong>Results: </strong>Five unrelated children, 4 females and 1 male, with median age of 6.2 years (4.6-11.7) at first assessment were investigated at the clinic from 2016 to 2021. Four homozygous and one heterozygous pathogenic CLN3 variants were found. Best corrected visual acuities (BCVAs) ranged from 0.18 to 0.88 logMAR at first presentation. Electronegative ERGs were identified in all patients. Bull's eye maculopathies found in all patients. Hyper-autofluorescence ring surrounding hypo-autofluorescence fovea on FAF was found. Foveal ellipsoid zone (EZ) disruptions were found in all patients with additional inner and outer retinal microcystic changes in one patient. Neurological problems noted included autism, anxiety, motor dyspraxia, behavioural issue, and psychomotor regression.</p><p><strong>Conclusions: </strong>CLN3 patients presented at median age 6.2 years with visual decline. Early onset maculopathy with an electronegative ERG and variable cognitive and motor decline should prompt further investigations including neuropaediatric evaluation and genetic assessment for CLN3 disease. The structural parameters such as EZ and FAF will facilitate ocular monitoring.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"241-256"},"PeriodicalIF":2.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9658572","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":"Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.","authors":"Thiago Gonçalves Dos Santos Martins,&nbsp;Ana Luiza Fontes de Azevedo Costa,&nbsp;Sérgio Luís Gianotti Pimentel,&nbsp;Maria Kiyoko Oyamada,&nbsp;Simone Finzi","doi":"10.1007/s10633-023-09924-z","DOIUrl":"https://doi.org/10.1007/s10633-023-09924-z","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.</p><p><strong>Methods: </strong>Fundus photography, total field electroretinogram, ultrasound, computerized visual field examination, biochemical examination and genetic testing were obtained.</p><p><strong>Results: </strong>The fundus exam showed diffuse arteriolar attenuation, optic disc with regular contours, and pigment agglomerates like \"bone spicules\" in the middle periphery. Ultrasound examination revealed scleral thickening and short axial diameter in both eyes. The total field electroretinogram exam showed a subnormal result with greater impairment of the scotopic phase of the exam. Computerized visual field examination demonstrated a diffuse reduction in retinal sensitivity in the periphery. Biochemical examination showed increased urine glycosaminoglycan excretion and iduronate-2-sulphatase activity (IDS) deficiency in leukocytes, confirming the type II mucopolysaccharidosis. Molecular analysis revealed a novel missense mutation (p.A77D) in the IDS gene.</p><p><strong>Conclusion: </strong>The case report is about a patient presented an attenuated form of the syndrome, with no cognitive impairment. Ophthalmologic follow-up is still an important part of multidisciplinary treatment for Hunter's syndrome.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"273-279"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9604750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rod photoreceptor activation and deactivation in early-stage diabetic eye disease.","authors":"J Jason McAnany,&nbsp;Jason C Park","doi":"10.1007/s10633-023-09925-y","DOIUrl":"https://doi.org/10.1007/s10633-023-09925-y","url":null,"abstract":"<p><strong>Purpose: </strong>To infer rod phototransduction activation and deactivation characteristics in diabetics who have mild or no clinically-apparent retinopathy.</p><p><strong>Methods: </strong>Fifteen non-diabetic controls, 15 diabetics with no clinically-apparent diabetic retinopathy (NDR), and 15 diabetics with mild non-proliferative diabetic retinopathy (MDR) participated. Dark-adapted flash electroretinograms (3.2 to 4.4 log scot td-s) were recorded to assess rod activation. The a-waves were fit with a Gaussian model to derive R_mp3 (maximum photoreceptor response amplitude) and S (phototransduction sensitivity). Rod deactivation was assessed with a paired flash paradigm, in which a-waves were measured for two flashes separated by inter-stimulus intervals (ISIs) of 0.125 to 16 s. The ISI needed for the a-wave amplitude of the second flash to recover to 50% of the first flash (t₅₀) was determined. The effect of stimulus retinal illuminance on activation and deactivation was evaluated in a subset of control subjects.</p><p><strong>Results: </strong>Analysis of variance indicated that both diabetic groups had significant log S reductions compared to controls (p < 0.001). Mean S was reduced by approximately 49% and 78% for the NDR and MDR groups, respectively. In contrast, log R_mp3 and log t₅₀ did not differ significantly among the groups (both p > 0.08). Reducing stimulus retinal illuminance significantly reduced S, but did not significantly affect R_max or t₅₀.</p><p><strong>Conclusions: </strong>Only phototransduction sensitivity was abnormal in this sample of diabetic subjects. The normal deactivation kinetics suggests that circulating rod current is normal. These findings begin to constrain possible explanations for abnormal rod function in early diabetic retinal disease.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"229-239"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9657401","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 guidelines for calibration and verification of stimuli and recording instruments (2023 update).","authors":"Daphne L McCulloch,&nbsp;Michael Bach,&nbsp;Mitchell Brigell,&nbsp;Hoover Chan,&nbsp;Ruth Hamilton,&nbsp;Chris Hogg,&nbsp;J Vernon Odom,&nbsp;Anthony G Robson","doi":"10.1007/s10633-023-09932-z","DOIUrl":"https://doi.org/10.1007/s10633-023-09932-z","url":null,"abstract":"<p><p>This document developed by the International Society for Clinical Electrophysiology of Vision (ISCEV) provides guidance for calibration and verification of stimulus and recording systems specific to clinical electrophysiology of vision. This guideline provides additional information for those using ISCEV Standards and Extended protocols and supersedes earlier Guidelines. The ISCEV guidelines for calibration and verification of stimuli and recording instruments (2023 update) were approved by the ISCEV Board of Directors 01, March 2023.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"199-210"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9607569","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":"Frequency-domain analysis of transient visual evoked potentials in schizophrenia.","authors":"Yu-Ting Tsai,&nbsp;James Gordon,&nbsp;Pamela Butler,&nbsp;Vance Zemon","doi":"10.1007/s10633-023-09921-2","DOIUrl":"https://doi.org/10.1007/s10633-023-09921-2","url":null,"abstract":"<p><strong>Purpose: </strong>Frequency-domain measures were applied to characterize neural deficits in individuals with schizophrenia using transient visual evoked potentials (tVEP). These measures were compared with conventional time-domain measures to elucidate underlying neurophysiological mechanisms and examine the value of frequency analysis.</p><p><strong>Methods: </strong>Four frequency bands of activity identified in previous work were explored with respect to magnitude (spectral power), timing (phase), a combined measure, magnitude-squared coherence (MSC), and compared to amplitudes and times of prominent deflections in the response.</p><p><strong>Results: </strong>Band 2 power/MSC (14-28 Hz) captured the major deflections in the waveform and its power predicted N75-P100 amplitude for patients and controls. Band 3 power/MSC (30-40 Hz) correlated highly with the earliest deflection (P60-N75), reflecting input to primary visual cortex (V1) and produced the largest magnitude effect. Phase of the 24th harmonic component predicted P100 peak time for patients and controls and yielded the largest group difference. Cluster analyses including time- and frequency-domain measures identified subgroups of patients with differential neurophysiological effects. A small but significant difference in visual acuity was found between groups that appears to be neurally based: Acuity (range 0.63-1.6) was not correlated with any tVEP measures in controls nor with input timing to V1 (P60 peak time) in patients, but was correlated with later tVEP measures in patients. All but two of the patients were on antipsychotic medication: Medication level (chlorpromazine equivalents) was correlated negatively with tVEP time measures and positively with certain magnitude measures yielding responses similar to controls at high levels.</p><p><strong>Conclusions: </strong>Overall, frequency-domain measures were shown to be objective and recommended as an alternative to conventional, subjective time-domain measures for analyzing tVEPs and in distinguishing between groups (patients vs. controls and patient subgroups). The findings implicated a loss of excitatory input to V1 in schizophrenia. Acuity as measured in the current study reflected disease status, and medication level was associated with improved tVEP responses. These novel tVEP techniques may be useful in revealing neurophysiological processes affected in schizophrenia and as a clinical tool.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"211-227"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9607256","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":"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}