Documenta Ophthalmologica最新文献

{"title":"New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.","authors":"Anna Baldaquí-Baeza, Jesús Díaz-Cascajosa, Delia Yubero-Siles, Gema Escribano-Serrano, Diana Salinas-Chaparro, Cinthia Aguilera, Anna Esteve-Garcia, Itziar Alonso-Colmenero, Jaume Català-Mora","doi":"10.1007/s10633-026-10106-w","DOIUrl":"10.1007/s10633-026-10106-w","url":null,"abstract":"<p><strong>Objective: </strong>To describe the genetic mutation and its action mechanism in patients with compatible diagnosis of fundus albipunctatus (FAP).</p><p><strong>Subjects and methods: </strong>We describe the clinical evolution and genetic findings of two female Spanish children of 14 and 16 years old who have been followed at the children's hospital Sant Joan de Déu (Barcelona, Spain). Nyctalopia without detectable field constriction was the initial symptom. Retinal fundus was compatible with FAP or retinitis punctata albescens (RPA). We have registered ophthalmological examination from each visit, including visual acuity, visual field assessment, wide-field fundoscopy imaging, fundus autofluorescence and optical coherence tomography. Full-field electroretinogram (ERG) was also performed. DNA sampling was analysed by next-generation sequency (NGS).</p><p><strong>Results: </strong>Compound heterozygous pathogenic variants in the LRAT gene were identified in both children. Interestingly, these were the same two pathogenic variants, despite the families being unrelated. No additional genetic alterations were found that could explain the disease in our patients.</p><p><strong>Conclusions: </strong>To the best of our knowledge, up to the present time, only a single clinical case involving a genetic variant in the LRAT gene leading to an FAP phenotype has been reported in the literature. LRAT genetic variants, despite their low frequency in clinical practice, seem to lead to a FAP-like phenotype, in addition to their established association with Leber congenital amaurosis (LCA) and Early Onset Severe Retinal Dystrophy (EOSRD).</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"255-264"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147812057","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":"Bilateral retinal astrocytic hamartomas in retinitis pigmentosa: two case reports and systematic review.","authors":"Ru-Yi Zhai, Cong Duan, Yuan Zong, Qing Chang, Ge-Zhi Xu, Feng-Juan Gao","doi":"10.1007/s10633-026-10110-0","DOIUrl":"10.1007/s10633-026-10110-0","url":null,"abstract":"<p><strong>Purpose: </strong>To report two novel cases of retinitis pigmentosa (RP) associated with bilateral retinal astrocytic hamartomas (RAHs) and to conduct a systematic review of this rare association.</p><p><strong>Design: </strong>Retrospective observational case series and literature review.</p><p><strong>Methods: </strong>We describe the clinical, multimodal imaging, and genetic findings of two male patients with genetically confirmed RP (RP2 and CDH23 mutations) and bilateral peripapillary RAHs. A comprehensive review of all previously reported cases of RP with RAH was performed to summarize demographic, clinical, and imaging characteristics.</p><p><strong>Results: </strong>Both patients presented with advanced RP and characteristic mulberry-like, calcified lesions at the optic disc margins. Optical coherence tomography angiography (OCTA) demonstrated intrinsic vascularization within the lesions, a key feature distinguishing RAH from optic disc drusen. Systemic and genetic evaluations ruled out phakomatoses. Literature review identified 10 prior cases. Analysis of all 12 cases (including ours) revealed a strong male predominance (10:2), with RAHs typically being bilateral (9/12), peripapillary (11/12), and often multifocal (9/12). Follow-up data showed lesion progression in half of the cases. Genetic heterogeneity was noted, with our cases expanding the mutational spectrum to include RP2 and CDH23.</p><p><strong>Conclusions: </strong>RAH is a rare but important finding in RP, most commonly presenting as bilateral, peripapillary lesions in male patients. Multimodal imaging, particularly OCTA confirmation of intralesional flow, is crucial for accurate diagnosis and differentiation from drusen. Recognition of this association can prevent misdiagnosis and guide appropriate long-term monitoring for potential lesion progression.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"265-273"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147940583","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":"Effects of short-term moderate versus high intraocular pressure elevation on flicker-induced changes in full-field electroretinogram.","authors":"Milan Rai, Xiayin Yang, Kai Yip Choi, Shaoying Tan, Henry Ho-Lung Chan","doi":"10.1007/s10633-026-10129-3","DOIUrl":"10.1007/s10633-026-10129-3","url":null,"abstract":"<p><strong>Purpose: </strong>Transient flickering light stimulation (FLS) enhances the electrical activity in the middle retinal layer (MRL) of wild-type mice. This study investigates how short-term moderate and high intraocular pressure (IOP) elevation influences flicker-induced enhancement in the retinal activity using full-field electroretinograms (ffERG).</p><p><strong>Methods: </strong>Baseline blood pressure (BP), IOP, mean ocular perfusion pressure (OPP), and ffERG were measured before and after FLS in eighteen C57BL/6 J mice. The mice were subsequently divided into two groups: ocular hypertension (OHT, n = 9) and control (n = 9). In the OHT group, IOP was firstly transiently elevated to ~ 35 mm Hg for 5 min (termed as Loop on Phase-1 (LOP-1)) using an adjustable vascular loop in one randomly chosen eye, while the control group had the loop placed without IOP elevation. IOP was further elevated to ~ 65 mm Hg in the same eye for another 5 min (termed as Loop on Phase-2 (LOP-2)) in the OHT group, while the control group had the loop placed in the same eye without IOP increase. The BP, IOP, mean OPP and ffERG measurements were repeated before and after FLS in each condition.</p><p><strong>Results: </strong>While BP showed no significant differences, mean OPP was significantly reduced at LOP-1 and LOP-2 in the OHT group compared to both baseline (p < 0.001) and to the control group (p < 0.001). The b-wave amplitudes recorded after FLS were significantly higher than those before FLS at baseline and LOP-1 conditions in both control (p < 0.01) and OHT groups (p < 0.001). In the LOP-2 condition, the OHT group showed no significant difference (p > 0.05) between pre- and post-FLS b-wave amplitudes, while the control group exhibited a significant increase (p < 0.001). The percentage change in b-wave amplitude was significantly reduced in the OHT group at LOP-2 condition (Pre-Loop vs LOP-2: p < 0.01; LOP-1 versus LOP-2: p < 0.001), while the control group maintained a consistent percentage increase in b-wave amplitudes. No such significant changes were found in other parameters of ffERG response after FLS.</p><p><strong>Conclusions: </strong>Short-term high IOP elevation (~ 65 mm Hg), but not moderate (~ 35 mm Hg), disrupted flicker-induced enhancement of MRL electrical activity. This implies that the retina can adapt to a short period of moderate IOP, sustaining a normal increase in the retinal electrical activity in response to FLS. However, even a short period of high IOP would cause certain physiological damage to the retina.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"149-164"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13619646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148387514","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":"Multifocal visual evoked potential in thyroid associated ophthalmopathy.","authors":"Mohamed Ibrahim Salah, Amany Abd Al-Fattah El-Shazly, Doaa Maamoun Ashour, Mahmoud Ahmed Elsamkary, Mohamed Nabil Hamza, Randa Hesham Ali Abdelgawad","doi":"10.1007/s10633-026-10113-x","DOIUrl":"10.1007/s10633-026-10113-x","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the visual function in patients with thyroid associated ophthalmopathy (TAO) without clinical optic neuropathy by multifocal visual evoked potential (mfVEP) and to correlate the findings with Humphrey visual field (HVF) and optical coherence tomography (OCT).</p><p><strong>Methods: </strong>This observational case-control study recruited a consecutive group of euthyroid TAO patients (excluding those with optic neuropathy) and a healthy matched control group. Ophthalmological assessment was done followed by HVF test, OCT retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC), and mfVEP. For mfVEP, results were reported as mean signal-to-noise ratio (SNR) of upper and lower sectors of rings 5-6 (9.9°-22°).</p><p><strong>Results: </strong>Thirty patients were included in each group (TAO patients and controls). No significant differences were observed between the groups in RNFL thickness, GCC thickness, or upper/lower hemifield VF parameters. Analysis of the mfVEP revealed that, before multiple comparisons correction, SNR was lower in TAO patients. A repeated measures analysis of variance confirmed significant main effects for both patient group (p = 0.004), and test location (comparing SNR in the upper vs. lower sectors of rings 5-6) (p < 0.001), but no significant interaction.</p><p><strong>Conclusion: </strong>In this limited cohort, initial analysis of mfVEP results suggested reduction of the SNR in TAO patients without clinical optic neuropathy, but these findings did not remain statistically robust after adjustment for multiple comparisons. mfVEP alterations occurred despite normal OCT and visual field findings and warrant further evaluation in larger, longitudinal studies.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"189-198"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13619650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147971290","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":"Blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel OPN1LW p.Ile109Asn variant.","authors":"Jessie Huang, Scott E Brodie, Jian Kong, Megan Soucy, Irene H Maumenee, Stephen H Tsang","doi":"10.1007/s10633-026-10118-6","DOIUrl":"10.1007/s10633-026-10118-6","url":null,"abstract":"<p><strong>Background: </strong>Blue Cone Monochromacy is a rare X-linked retinal disorder characterized by the selective loss of long-(L) and medium-(M) wavelength-sensitive cone function. While typically caused by large-scale genomic deletions or rearrangements within the OPN1LW/OPN1MW gene cluster, missense mutations are less common. Because blue cone monochromacy is often considered a stationary, congenital condition, sporadic cases lacking a family history can often be misidentified.</p><p><strong>Case presentation: </strong>A 12-year-old boy presented with reduced visual acuity and a parafoveal hyperautofluorescent ring pattern on fundus autofluorescence and was initially referred for work-up of CRX-related maculopathy. However, electroretinography (ERG) revealed preserved S-cone and rod function with moderately reduced photopic responses. Genetic sequencing identified a novel, maternally inherited, hemizygous missense mutation in the gene encoding OPN1LW (c.326T > A; p.Ile109Asn). AlphaFold simulations demonstrated that the substitution disrupts the 11-cis-retinal binding pocket by altering the hydrogen bonding network near the critical Lys312 residue. This structural instability likely impairs the phototransduction cascade and delays chromophore clearance, contributing to localized foveal photoreceptor stress and the observed macular structural changes.</p><p><strong>Conclusions: </strong>This report identifies a novel OPN1LW missense variant and provides a mechanistic basis for its pathogenicity through advanced structural modeling. Our findings demonstrate that blue cone monochromacy can present with atypical, progressive-appearing macular features, potentially mimicking Stargardt disease or other maculopathies. Furthermore, this case highlights the utility of in silico protein modeling in bridging the gap between variants and clinical phenotypes, expanding the known molecular spectrum of X-linked cone disorders.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"289-295"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148216850","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":"Inner retinal cavitations in three cases of NR2E3-associated retinopathy.","authors":"Prithvi Naveen, Camiel J F Boon, Srikanta Kumar Padhy","doi":"10.1007/s10633-026-10109-7","DOIUrl":"10.1007/s10633-026-10109-7","url":null,"abstract":"<p><strong>Purpose: </strong>To describe previously unrecognized inner retinal cavitations in patients with Enhanced S-cone syndrome (ESCS) carrying specific NR2E3 mutations, and to evaluate their structural characteristics using multimodal imaging.</p><p><strong>Methods: </strong>Three patients with molecularly confirmed ESCS, each harboring homozygous NR2E3 variants (c.290G > A [p.Arg97His] and c.229C > T [p.Arg77Trp]), were evaluated. Detailed clinical assessments included fundus examination, full-field electroretinography (ERG), and multimodal retinal imaging, including swept-source optical coherence tomography (SS-OCT), fundus autofluorescence (FAF), and red-free photography.</p><p><strong>Results: </strong>All patients exhibited classical ESCS functional features: nyctalopia, hyperopia with full-field ISCEV-standard ERGs demonstrating pathognomonic changes consistent with ESCS and additional S-cone ERGs of greater amplitude than standard light-adapted (LA 3.0) ERGs. Bilateral, perhaps oblong like, hypopigmented retinal cavitations were observed along the vascular arcades and nasal to the optic disc. SS-OCT localized these lesions primarily to the ganglion cell and inner plexiform layers, occasionally extending to the outer plexiform layer. Red-free imaging delineated cavitations more clearly than FAF. Hyperautofluorescent foci partially overlapped with the cavitations but did not match their shape.</p><p><strong>Conclusions: </strong>In this case series, inner retinal cavitations were observed in NR2E3-associated enhanced S-cone syndrome and may represent a previously underrecognized structural feature. Larger studies are needed to establish the broader prevalence of this finding across NR2E3 genotypes.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"243-251"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147940634","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 assessment of retinal function in preterm infants using the RETeval™ device: a proposal for reference data.","authors":"Viviane Lanzelotte, Eduardo F Damasceno, Bárbara Gonet, Carolina do Val F Ramos, Christina Gerth-Kahlert, James V M Hanson, José Eduardo da Silva, Saint Clair Gomes Junior, Arnaldo Costa Bueno, Tatiana Guimarães de Noronha","doi":"10.1007/s10633-026-10152-4","DOIUrl":"https://doi.org/10.1007/s10633-026-10152-4","url":null,"abstract":"<p><strong>Purpose: </strong>To establish age-adjusted flicker ERG reference values in premature infants through serial recordings, aiming to characterize retinal functional maturation and support diagnostic interpretation in retinopathy of prematurity screening.</p><p><strong>Methods: </strong>This prospective longitudinal study was conducted between April 2022 and October 2023 across six public neonatal care centers in Rio de Janeiro, Brazil. Premature infants eligible for ROP screening (birth weight ≤1500 g and/or gestational age ≤32 weeks) underwent serial retinal examinations with binocular indirect ophthalmoscopy and flicker electroretinography. Examinations were discontinued at ROP treatment indication or at 42 weeks postmenstrual age. Flicker ERG recordings were performed using a hand-held RETeval® device equipped with small-sized Sensor Strip™ skin electrodes. A 30 cd·s/m² white flicker stimulus at 28.3 Hz was delivered according to a standardized protocol. Recordings were repeated to ensure reproducibility and analyzed according to postmenstrual age (PMA).</p><p><strong>Results: </strong>Of the 199 premature infants, 94 (171 eyes) who never progressed beyond stage 0 ROP were included in the reference analysis. Serial ERG recordings demonstrated a consistent decrease in implicit time and increase in amplitude with advancing PMA. At 32-34 weeks PMA, the upper reference limits (97.5th percentile) were 44.8 ms and 8.5 µV, respectively, compared with 43.5 ms and 24.9 µV at 40-42 weeks PMA.</p><p><strong>Conclusion: </strong>Age-adjusted ERG reference values derived from serial recordings characterize retinal functional maturation in preterm infants, providing a framework for ERG interpretation during routine ROP screening and future studies of retinal development.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149069234","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":"Automated pupillometric quantification of relative afferent pupillary defect: comparison with neutral density filter grading in unilateral/asymmetric optic neuropathy.","authors":"Paromita Dutta, Namita Kedia, Parul Jain, Yashita Rao, Sukirti Bhaskar, Taniksha Singh","doi":"10.1007/s10633-026-10154-2","DOIUrl":"https://doi.org/10.1007/s10633-026-10154-2","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the diagnostic performance of automated pupillometric relative afferent pupillary defect (RAPD) scores based on constriction amplitude and latency and to assess their relationship with conventional neutral density filter (NDF) grading in patients with unilateral or asymmetric optic neuropathy.</p><p><strong>Methods: </strong>Dynamic automated pupillometry was used to calculate RAPD amplitude and latency scores in 100 patients with clinically evident asymmetric optic neuropathy and 97 controls. RAPD was clinically graded using NDF. All participants underwent pattern visual evoked potential and retinal nerve fibre layer thickness assessment by optical coherence tomography. Diagnostic discrimination was assessed using receiver operating characteristic (ROC) analysis. Agreement with NDF grading was assessed using weighted Cohen's κ and exploratory Bland-Altman analysis. Correlations with inter-eye differences in RNFL thickness and pVEP latency were also evaluated.</p><p><strong>Results: </strong>Both RAPD amplitude and latency scores were significantly higher in patients than in controls (p < .001). The area under the ROC curve was 0.850 (95% CI, 0.793-0.906) for RAPD amplitude and 0.799 (95% CI, 0.735-0.863) for RAPD latency. An exploratory amplitude cutoff of approximately 0.5 LU yielded 83% sensitivity and 80% specificity. The corresponding latency cutoff of approximately 0.24 LU yielded 87% sensitivity and 68% specificity. RAPD amplitude showed stronger correlation with NDF grading (Spearman ρ = 0.78) and greater quadratic weighted agreement (κ = 0.42) than latency (ρ = 0.68; κ = 0.36). RAPD amplitude showed weak correlations with inter-eye differences in pVEP latency (ρ = 0.25) and RNFL thickness (ρ = - 0.22). The difference between amplitude and latency AUCs was not statistically significant (ΔAUC = 0.051; p = 0.162).</p><p><strong>Conclusion: </strong>Automated RAPD amplitude and latency measurements demonstrated good and fair discriminatory performance, respectively, in this predefined case-control cohort. Amplitude showed numerically better discrimination and stronger agreement with NDF than latency, but superiority was not demonstrated statistically. The approximately 0.5-LU amplitude threshold is consistent with thresholds reported in previous studies but should be considered exploratory and hypothesis-generating, given the two-gate design, lack of independent validation, and absence of repeatability assessment. Automated pupillometry may have potential as an objective adjunct to clinical RAPD assessment, but further prospective validation using standardised protocols and an independent reference standard is required.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149073760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of high-frequency light flicker on pattern-reversal and steady-state visual evoked potentials in healthy subjects.","authors":"Stephanie Ancheta, Suhayla Karzazi, Maibritt Horning, Carsten Dam-Hansen, Henning Engelbrecht Larsen, Paul Michael Petersen, Martin Ballegaard","doi":"10.1007/s10633-026-10151-5","DOIUrl":"https://doi.org/10.1007/s10633-026-10151-5","url":null,"abstract":"<p><strong>Purpose: </strong>We investigated the effect of screen technology on visual evoked potentials (VEPs) by comparing a standard Cathode Ray Tube (CRT) screen with two Liquid Crystal Display (LCD) Light-Emitting Diode (LED) screens with differing levels of latency and high-frequency backlight flicker.</p><p><strong>Methods: </strong>All screens were calibrated to emit the same luminance and color composition. 19 young healthy subjects underwent VEP recording using checkerboard patterns with check widths of 0.26 degrees (º), 0.51º and 1.03º. Pattern Reversal VEPs (prVEPs) were recorded from occipital (O1, Oz, and O2) electrodes referenced to a frontal electrode (Fz), and Steady State VEPs (SSVEPs) were recorded using a standard International 10-20 electrode cap.</p><p><strong>Results: </strong>prVEP peak latencies were prolonged and amplitudes were slightly larger with LCD screens compared to the CRT screen, though the high-flicker LCD screen had slightly shorter peak latencies. Pattern-reversal SSVEP at 10 and 12 reversals/s entrained cortical activity to a comparable level across all screens, with no representation of high-frequency backlight flicker or its subharmonics detected in the SSVEP signal.</p><p><strong>Conclusion: </strong>Backlight flicker characteristics, timing jitter and latency affects VEP.</p><p><strong>Significance: </strong>These findings suggest that backlight flicker, timing jitter and latency should be considered when selecting LCD screens for clinical VEP recordings.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149037075","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":"Tapetal-like reflex in RPGR-associated retinal dystrophies: two cases with distinct phenotypes.","authors":"Patchrapa Wattanawinitchai, Parith Wongkittichote, Boontip Tipsuriyaporn, Tharikarn Sujirakul","doi":"10.1007/s10633-026-10150-6","DOIUrl":"https://doi.org/10.1007/s10633-026-10150-6","url":null,"abstract":"<p><strong>Introduction: </strong>Retinitis pigmentosa GTPase regulator (RPGR) mutations are associated with X-linked inherited retinal diseases (IRDs), with variable phenotypes including retinitis pigmentosa (RP), cone-rod dystrophy (CRD), and cone dystrophy (CD). Tapetal-like reflex (TLR) is commonly observed in female carriers and has more recently been reported in hemizygous male patients with cone-dominant or cone-rod phenotypes. Here, we report two male patients with RPGR mutations and TLR.</p><p><strong>Materials and methods: </strong>Clinical history, ophthalmic examination, multimodal retinal imaging, and genetic testing were reviewed in two unrelated Thai males with confirmed RPGR mutations.</p><p><strong>Results: </strong>The first patient was a 9-year-old boy with sector RP and progressive bilateral blurred vision. The second was a 24-year-old man with sector RP and CD. Both exhibited a characteristic TLR at the posterior pole despite being affected males. These cases illustrate the phenotypic variability associated with RPGR mutations and the occurrence of TLR in affected males.</p><p><strong>Conclusion: </strong>TLR may serve as a useful clinical clue to RPGR-related disease in both female carriers and affected males, including those with milder phenotypes such as sector RP. In affected males, the presence of TLR may be associated with preserved outer retinal structures and could indicate a milder phenotype, an earlier disease stage, or a more favorable prognosis.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149001407","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}