Documenta Ophthalmologica最新文献

{"title":"The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.","authors":"Srikanta Kumar Padhy, Paul A Constable","doi":"10.1007/s10633-026-10081-2","DOIUrl":"10.1007/s10633-026-10081-2","url":null,"abstract":"<p><strong>Purpose: </strong>The clinical electrooculogram (EOG) is used for the diagnosis of bestrophinopathies to evaluate the function of the retinal pigment epithelium. The current ISCEV test protocol uses a broad band white light with luminance of 100 cd/m². An alternative monochromatic 448 nm short wavelength (SW-EOG) has been proposed but to date has not been evaluated in clinical cases where the standard EOG is abnormal.</p><p><strong>Methods: </strong>To evaluate the clinical potential of the SW-EOG four genetically confirmed cases of Best Vitelliform Macular Dystrophy were tested using the standard white (100 cd/m²) and SW-EOG (448 nm) at 30 cd/m² to ascertain if the SW-EOG was also affected. In addition, a qualitative 5-point Likert survey was conducted to gauge overall patient comfort.</p><p><strong>Results: </strong>In all four cases the SW-EOG was reduced and provided an equivalent clinical measure for RPE dysfunction. All four participants rated the SW-EOG as being more comfortable than the white standard EOG test.</p><p><strong>Conclusions: </strong>This is the first demonstration of an alternative stimulus for the EOG that provided clinically valid results with greater comfort than the current ISCEV protocol. Further studies are required to validate the SW-EOG as an alternative to the white broad band stimulus.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"117-127"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146104280","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":"Unilateral pigmentary retinopathy in an Asian population.","authors":"George N Thomas, Sze Chuan Ong, Hwei Wuen Chan, Melissa Tien, Philip F Stanley, Adrian H C Koh, Graham E Holder","doi":"10.1007/s10633-025-10058-7","DOIUrl":"10.1007/s10633-025-10058-7","url":null,"abstract":"<p><strong>Purpose: </strong>To report a series of Asian patients with unilateral pigmentary retinopathy.</p><p><strong>Methods: </strong>Retrospective case series. Clinical features, fundus photography, fundus autofluorescence imaging (FAF), visual fields, optical coherence tomography (OCT) and electrophysiology were reviewed in 6 patients referred to two Singaporean inherited retinal disease clinics with suspected \"unilateral retinitis pigmentosa\".</p><p><strong>Results: </strong>Four patients presented with unilateral blurring of vision; 2 were asymptomatic. All index eyes and one fellow eye had FAF abnormalities consistent with visible fundus abnormalities. Visual fields were abnormal in all index and 2 fellow eyes. Macular OCT showed disruption of outer retinal layers in all index eyes and 1 fellow eye. Five index eyes had abnormal rod and cone full field electroretinogram (ERG) amplitudes, while one index eye had localized rod ERG amplitude abnormality. Two index eyes had 30 Hz flicker peak time delay. Three index eyes displayed cone greater than rod system involvement. Pattern electroretinography (PERG) demonstrated macular dysfunction in 5 index eyes and 2 fellow eyes. One case was diagnosed with possible RP. Alternative diagnoses (trauma and autoimmune retinopathy) were ascertained in 4 cases.</p><p><strong>Conclusion: </strong>Electrophysiology was more sensitive than clinical examination and imaging in detecting retinopathy or maculopathy. In only 1 of 6 patients referred for possible unilateral RP was that diagnosis sustainable; four could be attributed to an identified acquired etiology. Although the diagnosis was unclear in the remaining case, the clinical findings and investigations were not compatible with an inherited disorder.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"103-116"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145522544","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":"Calculation of silent substitution stimuli for full-field electroretinography using the SilentSubstiTutor application.","authors":"Cord Huchzermeyer, Jan Kremers","doi":"10.1007/s10633-026-10090-1","DOIUrl":"10.1007/s10633-026-10090-1","url":null,"abstract":"<p><strong>Purpose: </strong>The silent substitution technique allows photoreceptor directed stimulation (i.e., the selective stimulation of different photoreceptor types or a specific combination of photoreceptor types).</p><p><strong>Methods: </strong>Calculation of these stimuli is not trivial, requiring complex matrix calculations based on specific datasets (spectral power distributions of primary lights, photoreceptor fundamentals, and optical densities of pre-receptoral filters). Several tools have been published that facilitate these calculations, including an excel file and a python library, but these are difficult to use without prior knowledge.</p><p><strong>Results: </strong>We introduce an online application that allows calculation of silent substitution stimuli in a graphical user interface (GUI) for common use-cases (3 to 5 primary lights, periodic stimuli modulated around an average setting of the test field, 10° standard observers).</p><p><strong>Conclusion: </strong>The goal is to provide a practical tool that can be used in these cases, but that can also be used as a teaching tool for beginners who plan to use the more sophisticated methods.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"259-265"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147456239","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 retinal dysfunction in Posner-Schlossman syndrome: subclinical abnormalities revealed by full-field electroretinography.","authors":"Xin Ge, Jingyi Li, Xin Xie, Xiaojun He, Zhaoxiang Lu, Yun Feng","doi":"10.1007/s10633-025-10063-w","DOIUrl":"10.1007/s10633-025-10063-w","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to investigate whether Posner-Schlossman Syndrome (PSS), is strictly unilateral, to determine the presence of subclinical abnormalities in the contralateral eye, and to analyze the relationship between retinal function and the corneal sub-basal nerve in such patients.</p><p><strong>Methods: </strong>The patients included in this study were diagnosed with PSS. 14 patients with PSS and 21 healthy controls were recruited for this study. Both eyes of the patients and one eye of the healthy controls underwent full-field electroretinography (ffERG) examination. Additionally, in vivo confocal microscopy (IVCM) was performed on the affected eyes of the patients to assess the status of their corneal sub-basal nerve.</p><p><strong>Results: </strong>Compared with healthy controls, patients with PSS exhibited significantly reduced amplitudes and abnormal peak times in dark-adapted oscillatory potentials, light-adapted 3 ERG, and light-adapted 30 Hz flicker ERG in both eyes. However, no statistically significant differences were observed in dark-adapted 0.01 ERG, dark-adapted 3.0 ERG, and dark-adapted 10.0 ERG. All ffERG parameters in the affected eyes of patients showed no significant correlations with the total nerve length of corneal sub-basal nerve.</p><p><strong>Conclusions: </strong>The results demonstrate that PSS is not a strictly unilateral disease. Through ffERG, it is possible to identify cases of bilateral involvement that are difficult to detect, thereby enabling early intervention against potential disease progression.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"211-222"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145523108","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":"Retinal electrophysiological responses to dopaminergic therapy in treatment naïve Parkinson's disease.","authors":"Merve Ergun Yildiz, Hidayet Sener, Murat Gultekin, Hatice Kubra Sonmez, Osman Ahmet Polat, Fatih Horozoglu","doi":"10.1007/s10633-025-10076-5","DOIUrl":"10.1007/s10633-025-10076-5","url":null,"abstract":"<p><strong>Purpose: </strong>Parkinson's disease (PD) is a progressive neurodegenerative disorder in which the retina acts as a dopaminergic extension of the central nervous system. This study aimed to evaluate the effects of dopaminergic therapy on retinal electrophysiological responses in newly diagnosed, treatment-naïve PD patients and to compare these findings with those of healthy controls.</p><p><strong>Methods: </strong>Forty eyes from 20 PD patients underwent full-field electroretinography (ffERG). Photopic a-wave, b-wave, and photopic negative response (PhNR) wave amplitudes and implicit times were recorded before and after one month of dopaminergic therapy. For comparison, one randomly selected eye from each of 20 age- and sex-matched healthy control subjects also underwent the same ffERG protocol.</p><p><strong>Results: </strong>Following dopaminergic treatment, a-wave (- 6.6 ± 1.4 µV, p < 0.001), b-wave (20.0 ± 4.8 µV, p = 0.001), and PhNR wave amplitudes (- 7.9 ± 1.8 µV, p < 0.001) significantly increased. Pre-treatment, a-wave (- 8.9 ± 3.5 µV, p = 0.014), b-wave (38.3 ± 9.8 µV, p < 0.001), and PhNR-wave (- 17.6 ± 2.8 µV, p < 0.001) amplitudes were significantly lower in the PD group compared with controls. Post-treatment, a- and b-wave amplitudes became comparable to those of the control group (p > 0.05), while PhNR-wave amplitude remained significantly reduced (- 9.7 ± 4.1 µV, p = 0.023).</p><p><strong>Conclusion: </strong>Dopaminergic therapy significantly improved retinal electrophysiological responses in treatment-naïve PD patients. After treatment, the a- and b-wave amplitudes approached control levels, whereas the PhNR amplitude remained significantly reduced. These findings suggest that retinal dopaminergic dysfunction in PD may be partially reversible, and ffERG parameters can serve as sensitive biomarkers for monitoring treatment response.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"197-209"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145910896","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":"Functional and structural outcomes in paediatric myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD): a prospective study.","authors":"Flavia C Gericke, James V M Hanson, Annette Hackenberg, Christina Gerth-Kahlert","doi":"10.1007/s10633-026-10082-1","DOIUrl":"10.1007/s10633-026-10082-1","url":null,"abstract":"<p><strong>Purpose: </strong>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune disease affecting the central nervous system, frequently manifesting with optic neuritis (ON). Despite often favourable functional visual recovery, structural retinal changes may persist. This prospective study assessed the utility of functional and structural visual outcome measures in paediatric MOGAD.</p><p><strong>Methods: </strong>Children with serologically confirmed MOGAD were recruited from across Switzerland, alongside age-matched healthy controls. All participants underwent pattern-reversal visual evoked potentials (VEP; 15' and 60' check sizes), spectral-domain optical coherence tomography (OCT), high- and low-contrast distance visual acuity (VA), near VA, and colour vision testing. VEP outcomes were P100 peak times, and OCT outcomes were peripapillary retinal nerve fibre layer (pRNFL) thickness (global, temporal, nasal, and papillomacular bundle (PMB)), macular volume, and central retinal thickness. Discriminative performance was assessed using receiver operating characteristic (ROC) analysis.</p><p><strong>Results: </strong>Twelve paediatric MOGAD patients (10.9 ± 3.1 years) and twelve age-matched controls (11.5 ± 2.8 years) were included. VEP P100 peak times were generally comparable between patients and controls. pRNFL thickness appeared lower in patients than controls. ROC analysis showed excellent to outstanding discrimination for global, PMB, temporal, and nasal pRNFL sectors, both overall and in ON+ and ON- subgroups. VEP P100 peak times exhibited fair or poor discrimination overall, however 15' check sizes showed excellent discrimination between ON+ and control eyes.</p><p><strong>Conclusions: </strong>In our cohort, OCT-derived pRNFL thickness differentiated MOGAD from controls with high accuracy, including in eyes without prior ON. VEPs showed limited utility, supporting OCT as a more sensitive marker of subclinical structural involvement.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"171-184"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146219271","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 extended protocol for the photoreceptor directed ERG using full-field silent substitution stimuli.","authors":"Jan Kremers, Mirella T S Barboni, Andrew J Zele, Beatrix Feigl, J Jason McAnany, Anthony G Robson, Balázs Vince Nagy, Neil Parry, Omar A Mahroo, Cord Huchzermeyer","doi":"10.1007/s10633-026-10087-w","DOIUrl":"10.1007/s10633-026-10087-w","url":null,"abstract":"<p><p>The International Society for Clinical Electrophysiology of Vision (ISCEV) Standard for full-field electroretinography (ERG) describes a minimum procedure, but encourages more extensive testing. This ISCEV extended protocol describes an extension to the full-field ERG Standard, namely the ERG responses to silent substitution stimuli that are directed at the response modulation of single photoreceptor types. The method can be used to detect selective defects in distinct photoreceptor types and post-receptoral retinal pathways. This document, based on existing literature, provides protocols for recording and analyzing the responses to a single class of photoreceptor directed stimuli. For each photoreceptor type (rods, L-, M- and S-cones), optimal luminance conditions and temporal frequencies for Ganzfeld recordings are provided. The exact stimulus conditions depend on the spectral properties of the stimulator. An accompanying technical report describes an app that is meant to provide support in calculating stimuli for individual stimulators.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"247-256"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147270119","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":"Electroretinography (ERG) alterations following positional changes in gas-filled eyes after a vitrectomy.","authors":"Hiroshi Ichinohe, Yuki Yamabe, Shotaro Fujibayashi, Eitaro Imura, Yuka Odagiri, Tomohiro Narumi, Satoshi Okado, Shinji Ueno","doi":"10.1007/s10633-025-10075-6","DOIUrl":"10.1007/s10633-025-10075-6","url":null,"abstract":"<p><strong>Background: </strong>Recording electroretinograms (ERGs) in eyes with intraocular gas tamponade is difficult, and the mechanism remains unclear. We evaluated the effect of intraocular gas on ERGs by comparing recordings at different body positions.</p><p><strong>Methods: </strong>This study included 31 patients who underwent vitrectomy with sulfur hexafluoride (SF6) or air tamponade at Hirosaki University (between May 2023 and October 2024). The patients included those with retinal detachment (25 patients), macular holes (4 patients), and epiretinal membranes (2 patients). ERGs were recorded using skin electrodes when approximately 50% of the vitreous cavity was filled with the intraocular gas. ERGs were recorded in sitting, supine, and face-down positions. Amplitudes and latencies of the LA 3 b-wave and LA 30 Hz were compared using the Wilcoxon signed-rank and Friedman tests.</p><p><strong>Results: </strong>In the gas-filled eyes, amplitudes in the face-down position were smaller, and latencies were longer than those in the other positions (p < 0.05). Median amplitudes in the gas-filled eyes in the sitting, supine, and face-down positions were 20.4, 19.5, and 10.1 µV for LA 3 and 14.4, 15.5, and 7.11 for LA 30 Hz, respectively; median latencies were 32.5, 33.0, and 34.3 ms for LA 3 and 30.8, 30.0, and 34.3 for LA 30 Hz, respectively.</p><p><strong>Conclusions: </strong>ERG amplitudes were reduced and latencies were prolonged in the face-down position, which may be attributed to a larger retinal area being covered by intraocular gas. The gas acts as an insulator, and the gas-covered retina may not effectively generate or transmit electrical signals.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"223-234"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146104285","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":"Keeping kids engaged: the effects of superimposed single-line cartoons on pattern reversal VEPs.","authors":"Herman E Talsma, Frank P Hoeben, Maria M van Genderen, Gerard C de Wit","doi":"10.1007/s10633-026-10085-y","DOIUrl":"10.1007/s10633-026-10085-y","url":null,"abstract":"<p><strong>Purpose: </strong>Recording reliable pattern-reversal VEPs (prVEPs) in children is challenging due to limited attention. Superimposing dynamic cartoons may enhance engagement, but their effects on the prVEP are unclear.</p><p><strong>Methods: </strong>Fifteen healthy adults underwent prVEP testing under three conditions: (F) fixation on a central target (standard condition); (C) free viewing of a single-line cartoon superimposed onto the checkerboard pattern; and (M) a mixed condition, in which participants maintained fixation on the central target while the overlaid cartoon played. Eye movements were tracked to verify stable gaze in conditions F and M and to record gaze positions and velocities during condition C. P100 amplitude and peak time were analyzed for check sizes of 60' and 15'.</p><p><strong>Results: </strong>Under condition (C) (free viewing), P100 was significantly reduced to 74% of that observed during F (standard fixation) at 60' (***p = 0.001) and to 82% at 15' (**p = 0.004), along with a reduction in peak time (60': - 2.4 ms, ***p < 0.001; 15': - 3.1 ms, **p = 0.009). The M condition (mixed condition, fixation with the cartoon) produced minor, mostly non-significant changes in amplitude (60': 88%, p = 0.076; 15': 96%, p = 0.383) and peak time (60': - 1.7 ms, *p = 0.045; 15': 1.1 ms, p = 0.056). Eye tracking confirmed that 90% (C) to 96% (F and M) of reversals occurred during stable gaze. In condition (C), gaze was on average directed approximately 2° below the central position used for fixation in the other conditions.</p><p><strong>Conclusions: </strong>The effect of cartoon overlays on the P100 component of adult prVEPs is small, albeit statistically significant. The effects likely reflect subtle influences of attention and adaptation rather than eye movements. These findings support the use of a single-line cartoon in pediatric testing to enhance engagement and response reliability without compromising clinical interpretation.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"159-169"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146219231","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":"Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.","authors":"Nagham Maher Elbagoury, Mona Lotfi Essawi, Heba Mahmoud Fathy, Ola Mohamed Eid, Mostafa Nabih, Amal Mahmoud Mohamed, Caroline Atef Tawfik","doi":"10.1007/s10633-025-10053-y","DOIUrl":"10.1007/s10633-025-10053-y","url":null,"abstract":"<p><strong>Background: </strong>Foveoschisis refers to the splitting of retinal layers involving the macula that may have different causes with variable structural-functional natural histories. Idiopathic cases are seen in the absence of inherited or acquired predisposing conditions and referred to as stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR). Our study aimed to clinically and genetically characterize females presenting with foveoschisis (including affected male siblings where present).</p><p><strong>Methods: </strong>Five patients (3 females and 2 males) from 3 consanguineous families presenting with foveoschisis underwent complete ophthalmological evaluation, multimodal imaging including color, infrared, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), electroretinogram (ERG), and molecular evaluation including Sanger sequencing of the RS1 gene and whole exome sequencing (WES). Main outcome measures were age at first visit, best-corrected visual acuity (BCVA), peripheral retinal changes, FAF pattern, ERG findings, and RS1 variants.</p><p><strong>Results: </strong>The mean age was 21.8 years. The BCVA ranged from 20/100 to 20/20. Peripheral retinal changes ranged from a tapetal reflex, peripheral retinoschisis, vitreous veils, to vitreoretinal traction. A ring of increased signal was the most common FAF abnormality, while one patient exhibited a double-ring hyperautofluorescence. All patients demonstrated an electronegative ERG. One female was considered to have a molecularly undiagnosed inherited retinal disease (IRD). Another female was considered stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) after exclusion of other causes. Three patients showed a novel nonsense variant in the RS1 gene; homozygous in the female sibling and hemizygous in the male siblings. Familial segregation revealed an unaffected father and a carrier mother. Trio SNP array confirmed maternal segmental uniparental isodisomy (seg UPiD).</p><p><strong>Conclusion: </strong>This is the first reported X-linked retinoschisis (XLRS) case with seg UPiD. We emphasize the significance of SNP arrays in elucidating non-Mendelian inheritance cases. We report a novel variant, which is the first to be detected in the RS1 domain in a female.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"145-158"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145344085","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}