Documenta Ophthalmologica最新文献

{"title":"Diagnostic accuracy of B scan ultrasound for posterior segment ocular disorders: a meta-analysis.","authors":"Fujin Wu, Qing Wang, Tongmei Zheng, Xiuchun Wang, Chaobin Lin","doi":"10.1007/s10633-025-10005-6","DOIUrl":"https://doi.org/10.1007/s10633-025-10005-6","url":null,"abstract":"<p><strong>Purpose: </strong>B-scan ultrasound is widely utilized for diagnosing posterior segment ocular disorders due to its non-invasive nature and ability to provide real-time imaging. This meta-analysis evaluates the diagnostic accuracy of B-scan ultrasound in detecting various posterior segment ocular disorders.</p><p><strong>Methods: </strong>A comprehensive search was conducted across multiple databases including Medline, EMBASE, Cochrane Library, and SCOPUS, from their inception until May 2024. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool was employed to assess the risk of bias in the included studies. A bivariate meta-analysis was performed to calculate pooled estimates of sensitivity, specificity, and other diagnostic performance measures. Statistical analyses were conducted using STATA 14.2, which included generating summary receiver operating characteristic curves and diagnostic odds ratios.</p><p><strong>Results: </strong>Ten studies met the inclusion criteria, encompassing a total of 1,617 reference-tested units. The pooled sensitivity and specificity of B-scan ultrasound for diagnosing posterior segment ocular disorders were remarkably high at 96% (95% CI 91-98%) and 94% (95% CI 87-98%), respectively. The diagnostic odds ratio was 363 (95% CI 94-1406), indicating substantial diagnostic accuracy. The area under the curve (AUC) was 0.99, confirming the excellent capability of B-scan ultrasound. Notable heterogeneity was observed (I² = 86%), and no significant publication bias was detected.</p><p><strong>Conclusion: </strong>B-scan ultrasound demonstrates high sensitivity and specificity in diagnosing posterior segment ocular disorders, confirming its utility as a reliable diagnostic tool in clinical practice.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794397","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 spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration.","authors":"Jorge Pincay, Bruna Lopes da Costa, Peter M J Quinn, Marilyn Rodriguez, Ashley Zhou, Maximilian D Kong, Janet R Sparrow, Stephen H Tsang","doi":"10.1007/s10633-025-10016-3","DOIUrl":"https://doi.org/10.1007/s10633-025-10016-3","url":null,"abstract":"<p><strong>Purpose: </strong>The ciliopathies are a broad category of pleiotropic disease with numerous genes involved in pathogenesis. One of the genes implicated in the ciliopathies is WDR19, which can lead to several syndromic diseases that may manifest with a form of retinal degeneration. There is a lack of reporting on the WDR19-mediated retinal phenotype, and therefore warrants more clinical investigation. With retinal degeneration being the most prevalent symptom among the ciliopathies, phenotypic reporting is needed to enhance understanding of pathogenesis.</p><p><strong>Methods: </strong>Clinical, imaging, and diagnostic records of patients with two variants in the WDR19 gene and a form of retinal degeneration were retrospectively reviewed. Two different individuals analyzed the variants in the studied patients using SnapGene (Version 4.3.11), employing both the canonical NGG PAM and the NGA PAM prime editors.</p><p><strong>Results: </strong>Four patients from three families each carrying biallelic variants the WDR19 gene were reviewed. Two of the six unique variants identified among the patients were novel. Two identical twin patients presented with a recessive Stargardt (STGD)-like phenotype while the other two patients presented with a clinical picture more characteristic of retinitis pigmentosa (RP). Three of four patients had thickened external limiting membrane (ELM) on spectral-domain optical coherence tomography (SD-OCT). Full-field electroretinograms (ffERG) performed on two patients with the STGD-like phenotype showed a cone-rod pattern of degeneration. Quantitative short-wave fundus autofluorescence (qAF) performed on the two STGD-like patients was within the 95th percentile of normal eyes.</p><p><strong>Conclusions: </strong>WDR19-mediated retinal degeneration is heterogenous in presentation, and in some cases can phenocopy STGD. The foveal sparing phenotype was apparent in three of four patients with relatively preserved visual acuity, which may serve as a retinal prognostic factor in patients with pathogenic variants in WDR19. All six variants evaluated are correctable by prime editing, establishing a foundation for future research in therapeutic development.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778987","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 standard full-field ERG reference limits from 407 healthy subjects, derived from transference and validation of reference data between electrode types and centres.","authors":"Rebecca A Baker, Shaun M Leo, William I N Clowes, Isabelle Chow, Xiaofan Jiang, Anne L Georgiou, Antonio Calcagni, Christopher J Hammond, Magella M Neveu, Omar A Mahroo, Anthony G Robson","doi":"10.1007/s10633-025-10009-2","DOIUrl":"https://doi.org/10.1007/s10633-025-10009-2","url":null,"abstract":"<p><strong>Purpose: </strong>To establish age-adjusted reference intervals for the ISCEV standard full-field electroretinogram (ERG) recorded with silver thread electrodes in the lower fornix, based on a combined reference sample involving recordings from reference subjects and transference of data between two centres and two types of electrode.</p><p><strong>Methods: </strong>Silver thread lower fornix ERG reference data from two centres underwent verification for inclusion in the reference sample (n = 251). Comparison analysis was performed to determine whether gold foil reference data could be included in the silver thread reference range, directly or with adjustment. Reference subjects and patients underwent ERG testing with both silver thread and gold foil electrodes (n = 53) and skin electrodes (n = 41). A linear model, fitted to the electrode comparison data, was used to transform gold foil ERG reference data for inclusion in the reference sample (n = 156). The combined sample of 407 reference individuals was used to derive age-adjusted reference limits for the main DA 0.01, DA 3, DA 10, LA 30 Hz and LA 3 ERG components.</p><p><strong>Results: </strong>Silver thread ERG reference data was sufficiently similar across two centres to justify combination into a single reference sample. Peak times for gold foil and silver thread ERGs were closely comparable (r² 0.75-0.98, Bland-Altman bias ≤ 1.6 ms for all ERG components), with LA 30 Hz peak time showing the highest agreement (bias: - 0.2 ms, 95% limits of agreement (LOA): - 1.1 to 0.7 ms, 'silver thread-gold foil'). There was a clinically significant amplitude difference between electrode types: silver thread ERGs were 55-65% of the amplitude of gold foil ERGs (LOA ranged from 29 to 90%) and skin ERGs were 35-38% of the amplitude of silver thread ERGs (LOA ranged from 18 to 54%). Pooled reference data formed a sufficient sample covering 8 decades, from which age-adjusted parametric and nonparametric reference limits were calculated with reference to current guidelines.</p><p><strong>Conclusions: </strong>ISCEV standard silver thread ERG data were consistent across the two centres, allowing transference of reference data. Reference data recorded with gold foil electrodes can be transformed for inclusion in a silver thread ERG reference range. The study highlights methods of pooling multiple sources of reference data into a larger, more robust sample, pertinent to standardization, clinical management, and multi-centre studies. These reference data could be adopted by other centres or combined with other datasets, following suitable verification.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751580","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":"Multi-channel pattern VEPs with full and half field stimulation: methods of interpretation and diagnostic evaluation.","authors":"Dorothy A Thompson, Oliver R Marmoy, Joanne Cowe, Siân E Handley","doi":"10.1007/s10633-025-10012-7","DOIUrl":"https://doi.org/10.1007/s10633-025-10012-7","url":null,"abstract":"<p><strong>Aim: </strong>To describe methods of evaluating multichannel full and half field pattern VEPs using the ISCEV VEP Standard montage.</p><p><strong>Methods: </strong>The dependence of full field and half field pattern VEPs on retinal areas and cortical generators is reviewed and applied to the interpretation and evaluation of multichannel half field pattern VEPs.</p><p><strong>Results: </strong>There are predictable differences in the trans-occipital distributions of components of monocular full, and half field, pattern-reversal and full field, onset-offset VEPs. In combination, the differing distribution and dependence of these components on foveal and macular fields can help to identify and localise chiasmal and retro-chiasmal dysfunction and distinguish this from trans-occipital distribution due to individual variations of cortical architecture. A decision tree synthesising published evidence and current practice is suggested to guide interpretation of trans-occipital VEP distributions.</p><p><strong>Conclusion: </strong>The routine application of two additional lateral channels to acquire multichannel VEPs is quick, easy and adds clinical diagnostic value. The combination of full and half field pattern-reversal and fullfield, onset-offset VEPs can help evaluate chiasmal and retro-chiasmal visual pathway function, and minimise false positive interpretation of asymmetric VEP distributions, which may be due to cortical architecture or cranial anatomy alone.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699976","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":"Reference ranges of light-adapted full-field electroretinogram and associated factors in a large cohort of healthy school-aged children and adolescents.","authors":"Sonia Seen-Hang Chan, Kai Yip Choi, Natalie Yu-Yan Chan, Vivian Wai Ying Lo, Angela Hing-Yiu Hung, Henry Ho-Lung Chan","doi":"10.1007/s10633-025-10015-4","DOIUrl":"https://doi.org/10.1007/s10633-025-10015-4","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to establish a reference data set of light-adapted full-field electroretinograms (ffERG) of healthy primary and secondary schoolchildren and investigate the relationship among refraction, ocular biometry, and ffERG.</p><p><strong>Methods: </strong>Healthy children aged between 6 and 17 years were recruited. Cycloplegic spherical equivalent refraction (SER), axial length (AL) and keratometry (K) measurements were performed. Standardized ffERGs, including light-adapted flash and 30-Hz flicker, were measured using a portable device with skin electrodes. The percentiles of peak time and amplitude of a- and b-waves and 30-Hz flicker of ffERG waveform were reported, and their relationships with age, SER, AL, K were investigated.</p><p><strong>Results: </strong>Among the 445 participants (45.4% female), the SER (mean ± standard deviation) was - 0.72 ± 2.06 D and AL was 23.56 ± 1.15 mm. The 90% confidence interval (CI) of 5th reference limit of amplitudes of a- and b-wave were 5.0-5.8 µV and 15.0-17.6 µV, while 95th reference limit of peak times were 13.2-13.4 ms and 29.8-30.0 ms, respectively. The amplitude and peak time of the 30-Hz flicker waveform were 21.5-23.9 µV and 26.0-26.2 ms, respectively. In general, more myopic SER, and longer AL were associated with delayed and reduced ffERG waveforms. Older age and male sex were weakly correlated with ffERGs with minimal clinical significance.</p><p><strong>Conclusions: </strong>A reference data set of light-adapted ffERG in children and adolescents was established for clinical and research purposes.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691468","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":"Case of uveitis with increased electroretinographic amplitudes following Nivolumab and Ipilimumab administration for malignant melanoma.","authors":"Kumiko Kato, Ryunosuke Nagashima, Hisashi Matsubara, Yuka Yonekawa, Yuzen Kashima, Keitaro Mizumoto, Mineo Kondo","doi":"10.1007/s10633-025-10011-8","DOIUrl":"https://doi.org/10.1007/s10633-025-10011-8","url":null,"abstract":"<p><strong>Purpose: </strong>To report our flicker electroretinographic (ERG) findings in a patient who developed uveitis after treatment with immune checkpoint inhibitors (ICIs) for a metastatic malignant melanoma.</p><p><strong>Methods: </strong>ERGs were used to monitor retinal physiology in a patient with ocular complications following systemic ICI administration. Flicker ERGs were recorded using the RETeval system before and after the ICI treatments.</p><p><strong>Results: </strong>A 45-year-old woman was referred to our ophthalmologic clinic for baseline evaluations prior to initiating nivolumab/ipilimumab therapy. The patient had no ocular or ERG abnormalities at the initial visit, but three weeks after starting nivolumab/ipilimumab, she developed conjunctival hyperemia and tearing. Slit-lamp examination showed anterior chamber inflammation, and the ERGs showed a 40% increase in the amplitude from the baseline. However, optical coherence tomography (OCT) did not show any abnormalities. The anterior segment inflammation and increased ERG amplitude resolved with topical betamethasone. The patient developed significant liver damage after the second administration of nivolumab/ipilimumab, and this therapy was discontinued. Two steroid pulse therapies were followed by tapered oral prednisolone. During the follow-up period, no significant abnormalities were observed in the visual acuity or OCT images, but the ERG amplitudes increased from the first to the eighth month after the liver damage was detected. Five years later, the ERGs and OCT findings were within the normal limits, but she had developed a sunset glow fundus in both eyes.</p><p><strong>Conclusion: </strong>ERGs may be a useful objective test for posterior inflammation induced by administration of ICIs that is not evident in OCT images.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613708","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":"SLC37A3-associated retinitis pigmentosa: a case report of clinical features and three-year follow up.","authors":"Maximilian D Kong, Johnathan A Bailey, Abdhel Exinor, Chanakarn Piamjitchol, Aykut Demirkol, Stephen H Tsang","doi":"10.1007/s10633-025-10013-6","DOIUrl":"https://doi.org/10.1007/s10633-025-10013-6","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of SLC37A3-associated retinitis pigmentosa (RP) and associated imaging and electroretinography findings.</p><p><strong>Methods: </strong>The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography. Functional assessments were conducted using full-field electroretinography (ERG), following the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity.</p><p><strong>Results: </strong>A 58-year-old male presented with night blindness beginning in early adulthood. Family history was positive for consanguinity. Dilated fundus exam revealed mild optic disc pallor, small perivenous hyperpigmentation greater nasally, and spared foveal islands in both eyes. FAF demonstrated a hyperautofluorescent ring around the macula in a bull's eye pattern and hypoautofluorescent lesions along the arcades and nasally. ERG results supported a diagnosis of rod-cone dystrophy. Initial genetic panel testing and whole exome sequencing were inconclusive, but whole genome sequencing identified homozygous mutations in the SLC37A3 gene.</p><p><strong>Discussion: </strong>This report expands upon the sparse clinical data on SLC37A3-associated RP and supports the observation that a nasal predominance of retinal pigment may be a distinguishing clinical feature. Additionally, this case underscores the diagnostic value of whole-genome sequencing, especially when initial targeted genetic panels or whole-exome sequencing yield negative results. The metabolic role of SLC37A3, potentially linked to intracellular glucose transport, suggests a novel pathway in RP pathogenesis that warrants further study. Advances in gene-specific natural history characterization will be critical as gene-targeted therapies evolve, particularly for rare genetic forms of RP such as this case.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604282","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":"Evaluating the repeatability of the multifocal electroretinogram in the cone dominant 13-lined ground squirrel.","authors":"Nicole Manfredonia, Hannah M Follett, Phyllis Summerfelt, James A Kuchenbecker, Joseph Carroll, Ching Tzu Yu","doi":"10.1007/s10633-025-10010-9","DOIUrl":"https://doi.org/10.1007/s10633-025-10010-9","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the repeatability of the multifocal electroretinogram (mfERG) in the 13-lined ground squirrel (13-LGS).</p><p><strong>Methods: </strong>13-LGS (Ictidomys tridecemlineatus, 2 M/4F, n = 12 eyes) were equally divided between 61-segment or 103-segment protocols containing two consecutive mfERG scans per session, and two total sessions performed one week apart per eye. The trough-to-peak amplitudes were analyzed under three conditions: raw, normalized to the optic nerve head (ONH), and normalized to the visual streak (VS). For intrasession repeatability, the two consecutive scans within each session were analyzed. For intersession repeatability analyses, one scan was randomly chosen from each day.</p><p><strong>Results: </strong>Intrasession repeatability of the mfERG trough-to-peak amplitude data averaged at 63% (Raw), 55% (ONH), and 50% (VS). There was no significant difference in repeatability between each day's intrasession repeatability values for all normalization conditions (Raw: Wilcoxon t-test, p = 0.2334; ONH: Paired t-test, p = 0.7803; VS: Wilcoxon t-test, p = 0.3804). Intersession percent repeatability of mfERG trough-to-peak amplitude data averaged at 72% (Raw), 61% (ONH), and 53% (VS). There was a statistically significant difference between the groups (Friedman test, p = 0.0038). This was evident in the Benjamini-Hochberg method of controlling the false discovery rate (FDR) where there was a significant difference comparing Raw versus VS (p = 0.0130) and ONH versus VS (p = 0.0011). There was no difference comparing Raw versus ONH (p = 0.1076).</p><p><strong>Conclusions: </strong>Overall intrasession and intersession repeatability of mfERG amplitude was relatively poor in our sample, though not markedly different than that reported in some other species and normalization methods did result in improved repeatability. As animal models are critical for vision research, these repeatability estimates will prove useful in interpreting future data collected following interventions or in longitudinal monitoring of disease models.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604279","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":"Unilateral best vitelliform macular dystrophy- a case series.","authors":"Dhanashree Ratra, Abhishek Karra","doi":"10.1007/s10633-025-10008-3","DOIUrl":"https://doi.org/10.1007/s10633-025-10008-3","url":null,"abstract":"<p><strong>Purpose: </strong>To report 2 cases with unilateral Best vitelliform macular dystrophy (VMD) and describe their multimodal investigations findings.</p><p><strong>Methods: </strong>Two patients in their fifties who were misdiagnosed as central serous chorioretinopathy were carefully evaluated using multimodal imaging and electrooculography (EOG) investigations.</p><p><strong>Results: </strong>Both patients showed neurosensory elevation at the macula in one eye only leading to reduced vision. The optical coherence tomography showed subretinal hyperreflective material lining the undersurface of the elevated retina with thinning of the overlying photoreceptor layer. There was no choroidal thickening or pachy vessels. There was no leakage seen on fluorescein angiography nor any choroidal hyperpermeability on indocyanine green angiography. There was no choroidal neovascular membrane noted. The left eye was clinically unaffected for both. The EOG showed a reduced light peak to dark trough (LP:DT) ratio in both the eyes of these patients confirming the diagnosis of Best VMD. No change was seen in the eye condition over 2 years.</p><p><strong>Conclusions: </strong>Best VMD can present in unilateral fashion in rare instances. EOG can be confirmatory along with genetic testing. It can be misdiagnosed as CSCR where multimodal imaging and EOG can help differentiate it as Best VMD.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482425","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":"Relatively preserved retinal function in RPE65-associated retinopathy: a case report.","authors":"Kei Mizobuchi, Takaaki Hayashi, Shuhei Kameya, Yuri Ohta, Kohei Kuribayashi, Kei Shinoda","doi":"10.1007/s10633-025-10007-4","DOIUrl":"https://doi.org/10.1007/s10633-025-10007-4","url":null,"abstract":"<p><strong>Purpose: </strong>RPE65-associated retinopathy is a rare form of inherited retinal dystrophy. This case report aimed to describe a patient with biallelic RPE65 variants who demonstrated a milder phenotype compared to previous cases.</p><p><strong>Case presentation: </strong>A 9-year-old male patient was referred to The Jikei University Hospital for clinical and genetic assessments. The patient underwent ophthalmic examinations, including full-field electroretinography (ERG) in the left eye (LE) and in right eye (RE) after 30 min and 24 h of dark adaptation, respectively, and genetic testing using whole exome sequencing analysis. The genetic analysis revealed a known variant [(c.1543C > T, p.Arg515Trp)] and a novel variant [c.462G > T, (p.Lys154Asn)] in the compound heterozygous state in the RPE65 gene. Fundus photograph showed a normal appearance at the posterior pole and multiple white dots in the midperipheral retina. Fundus autofluorescence imaging showed diffusely decreased autofluorescence. Optical coherence tomography showed a normal appearance, including the outer retinal layers. Dark-adapted (DA) ERGs. (DA 0.01, DA 3.0, and DA 10.0) were reduced in amplitude in both eyes (BE), whereas a slight recovery of amplitude was observed in the RE. The b/a-wave ratios of DA 3.0 and 10.0 were 1.31 and 1.30 in the RE, and 1.16 and 1.25 in the LE. Light-adapted ERGs (LA 3.0 and LA 30-Hz flicker) were also reduced in amplitude in BE.</p><p><strong>Conclusions: </strong>Our findings suggest that RPE65-associated retinopathy should be considered in the differential diagnosis, even in patients with preserved retinal structure and function.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457163","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}