Stephanie Quinn, Vasileios T Papastavrou, Clare Warriner, Jill M O'Brien, Michael E Grinton, Andrew C Browning
{"title":"Early retinal electrophysiology changes in quinine overdose.","authors":"Stephanie Quinn, Vasileios T Papastavrou, Clare Warriner, Jill M O'Brien, Michael E Grinton, Andrew C Browning","doi":"10.1007/s10633-025-10034-1","DOIUrl":"https://doi.org/10.1007/s10633-025-10034-1","url":null,"abstract":"<p><strong>Purpose: </strong>To report the early and subsequent electrophysiological findings of 2 patients following quinine overdose.</p><p><strong>Methods: </strong>Serial assessments including: Medical history, visual acuity (VA), fundus autofluorescence, spectral-domain macular optical coherence tomography (OCT) and full-field electroretinogram (ffERG) were performed on 2 patients, between 2 and 47 days after quinine overdose.</p><p><strong>Results: </strong>Both patients experienced a similar clinical course. After almost total vision loss within the first 24 h, VA dramatically improved by day 3. Early OCT changes demonstrated central macula hyperautofluorescence, which coincided with a hyperreflectivity of the macular inner retina on OCT. The initial ffERG findings demonstrated changes consistent with marked inner retinal dysfunction of the cone system, affecting both the cone ON- and OFF-bipolar cell pathways. In contrast, rod bipolar cell function was unaffected in the early phase of toxicity. Between days 10 and 17, the retinal arterioles showed narrowing which coincided with attenuation of ffERG parameters of rod system inner retinal function between days 10-40.</p><p><strong>Conclusions: </strong>These cases suggest the early stages of quinine toxicity affect function of the presynaptic cone bipolar cell junction. This is then followed by retinal arteriolar attenuation and the well described electronegative scotopic ffERG.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316111","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":"Author index for the 2025 ISCEV symposium abstracts.","authors":"","doi":"10.1007/s10633-025-10032-3","DOIUrl":"https://doi.org/10.1007/s10633-025-10032-3","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301349","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}
Jonathan A Alexis, Prathiba Ramakrishnan, Matthew K Kenworthy, Jennifer A Thompson, Enid S Chelva, Fred K Chen
{"title":"CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.","authors":"Jonathan A Alexis, Prathiba Ramakrishnan, Matthew K Kenworthy, Jennifer A Thompson, Enid S Chelva, Fred K Chen","doi":"10.1007/s10633-025-10027-0","DOIUrl":"https://doi.org/10.1007/s10633-025-10027-0","url":null,"abstract":"<p><strong>Purpose: </strong>To describe multimodal imaging and electrophysiology features of CTNNA1-associated retinal dystrophy in a family with p.(Leu318Ser) substitution.</p><p><strong>Methods: </strong>Three family members including a 48-year-old male proband, his 52-year-old sister, and their 67-year-old mother, were evaluated with multimodal imaging and electrophysiology. The proband, referred with suspected Best's disease, underwent a retinal dystrophy panel and two affected family members were target sequenced for the familial variant.</p><p><strong>Results: </strong>The NM_001903.5:c.953T > C variant in CTNNA1 segregated with affected family members. They maintained a visual acuity of 20/25 or better throughout 2-4 years of follow-up. The proband exhibited butterfly-shaped pigment dystrophy whilst his sister had no macular lesions, and their mother had foveal pigmentary changes. All three displayed peripheral retinal reticular pigmentation with variable atrophy. Microperimetry demonstrated enlarging paracentral scotoma in the proband whilst Esterman binocular suprathreshold test showed reproducible peripheral loss in the proband's sister. Multifocal electroretinography (ERG) confirmed central macular dysfunction in the proband. In all three, full-field ERG showed mildly delayed dark-adapted (DA) 0.01 b-wave and DA3.0 a-wave, and a light-rise of < 1.7 in one or both eyes on electro-oculography (EOG).</p><p><strong>Conclusions: </strong>CTNNA1-associated retinal dystrophy due to p.(Leu318Ser) has a unique peripheral retinal phenotype despite variable macular involvement. Reduced EOG light-rise and peripheral reticular pigmentation should raise suspicion of CTNNA1 in butterfly-shaped pigment dystrophy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198463","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}
Nicole Manfredonia, Hannah M Follett, Phyllis Summerfelt, James A Kuchenbecker, Joseph Carroll, Ching Tzu Yu
{"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":"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":"117-126"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12216646/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Henrike Marie Nowitzki, Michael B Hoffmann, Khaldoon O Al-Nosairy
{"title":"DTL versus skin electrodes in recording of multifocal pattern electroretinogram and multifocal photopic negative response.","authors":"Henrike Marie Nowitzki, Michael B Hoffmann, Khaldoon O Al-Nosairy","doi":"10.1007/s10633-025-10014-5","DOIUrl":"10.1007/s10633-025-10014-5","url":null,"abstract":"<p><strong>Objective: </strong>To compare the photopic negative response of the multifocal ERG (mfERG<sub>PhNR</sub>) and the multifocal pattern electroretinogram (mfPERG) using DTL electrode (E<sub>DTL</sub>) vs skin electrode (E<sub>SKIN</sub>) in healthy young and old adults.</p><p><strong>Methods: </strong>Ten \"Young\" [20-27 years] and eight \"Old\" [60-72 years] participants took part in this study. The electrophysiological responses were recorded binocularly using E<sub>DTL</sub> and E<sub>SKIN</sub>. 5-way ANOVAs were applied to investigate the following factors on mfERG<sub>PhNR</sub>: i) ELECTRODE, ii) DILATATION, iii) AGE, iv) EYE, and v) ECCENTRICITY. For mfPERG, the same factors, except dilatation, were investigated applying 4-way ANOVAs. These were conducted for amplitude and peak time of different components as well as signal-to-noise-ratio (SNR).</p><p><strong>Results: </strong>Amplitudes of mfERG<sub>PhNR</sub> [mfPERG]-based E<sub>SKIN</sub> recording were reduced to 32-38% [37-38%] compared to E<sub>DTL</sub>, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> . This corresponded to SNR reduction to 80% [60%], <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> . E<sub>SKIN</sub> based responses had shorter peak times, by 0.2-0.5 ms for N1 and P1, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.05</mn></mrow> </math> , [P1: 1.5 ms, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> ]. Both age groups had comparable amplitudes and SNRs, but Young had shorter peak times, by 1.5-2.2 ms for N1 and P1, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.05</mn></mrow> </math> [3.7-4.2 ms for N1, P1, N2, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.05</mn></mrow> </math> ]. Compared to dilated recordings, undilated mfERG<sub>PhNR</sub> amplitudes were reduced to 47-87%, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.01</mn></mrow> </math> , and peak times were delayed by 2.0-11.8 ms, <math><mrow><mi>p</mi> <mo><</mo> <mn>0.001</mn></mrow> </math> .</p><p><strong>Conclusions: </strong>mfPERG & mfERG<sub>PhNR</sub> traces were similar for E<sub>DTL</sub> and E<sub>SKIN</sub>. However, for skin electrodes, amplitudes and SNRs were lower and peak times shorter. E<sub>SKIN</sub> thus seem to be a viable alternative in patients in whom the use of corneal electrodes is precluded, e.g., children and disabled patients, but at the expense of SNR and with reference to E<sub>SKIN</sub> normative data.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"137-153"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968977","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":"Aflibercept for the treatment of pigmentary retinopathy in Kearns-Sayre syndrome?","authors":"Josef Finsterer","doi":"10.1007/s10633-025-10022-5","DOIUrl":"10.1007/s10633-025-10022-5","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"197-198"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101635","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}
Jorge Pincay, Bruna Lopes da Costa, Peter M J Quinn, Marilyn Rodriguez, Ashley Zhou, Maximilian D Kong, Janet R Sparrow, Stephen H Tsang
{"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":"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":"155-167"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137442/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Scott E Brodie, Promie Faruque, Jorge Pincay, Mohamed Sylla, Xuan Cui, Stephanie Choi, Karen Holopigian, Vivienne Greenstein
{"title":"Comparison of ERG signal-to-noise ratios in simultaneous recordings with skin electrodes and contact lens electrodes.","authors":"Scott E Brodie, Promie Faruque, Jorge Pincay, Mohamed Sylla, Xuan Cui, Stephanie Choi, Karen Holopigian, Vivienne Greenstein","doi":"10.1007/s10633-025-10003-8","DOIUrl":"10.1007/s10633-025-10003-8","url":null,"abstract":"<p><strong>Purpose: </strong>To compare signal-to-noise levels in ERG recordings obtained with contact lens electrodes and adhesive skin electrodes.</p><p><strong>Methods: </strong>23 subjects were studied. Full-field ERGs were recorded according to ISCEV standards simultaneously with ERG-jet corneal contact lens electrodes and LKC Technologies Sensor Strip adhesive skin electrodes. B-wave amplitude or peak-to-peak amplitude was used as a measure of signal strength. Noise was estimated using the \" ± averaging method.\" Comparisons between signal strength, absolute noise levels, and signal-to-noise ratios between contact lens and skin electrodes were performed by linear regression.</p><p><strong>Results: </strong>Comparisons of signal strength for LA 3, 30-Hz, DA 0.01, and DA 3 responses, yielded regression coefficient ß values of 0.37, 0.39, 0.39, and 0.35, respectively. For the entire data set, the regression coefficient ß value was 0.36 (95% confidence limits 0.34 - 0.38). The grand average ERG noise for all ERG stimuli was 13.8 µV for contact lens electrodes and 13.0 µV for skin electrodes (not significant: p = 0.66 for paired t-test). For signal-to-noise ratios, regression ß coefficients for contact lens and adhesive skin electrodes for LA 3, 30-Hz, DA 0.01, and DA 3 stimuli were 0.25, 0.39, 0.50, and 0.36 respectively. The ß coefficient for the amalgamated data set was 0.33 (95% confidence limits 0.30- 0.36).</p><p><strong>Conclusions: </strong>Overall ERG amplitudes obtained with skin electrodes were 1/3 those obtained with contact lens electrodes. Absolute noise levels were similar. Signal-to-noise levels with skin electrodes were 1/3 those seen with contact lens electrodes. Implications for signal-averaging in clinical applications are discussed.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"127-135"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143187592","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 ERGtools2 package: a toolset for processing and analysing visual electrophysiology data.","authors":"Moritz Lindner","doi":"10.1007/s10633-025-10017-2","DOIUrl":"10.1007/s10633-025-10017-2","url":null,"abstract":"<p><strong>Purpose: </strong>To introduce ERGtools2, an open-source R package for processing, analysing and long-term storing visual electrophysiology data.</p><p><strong>Methods: </strong>A dataset comprising Electroretinogram (ERG) recordings of C57Bl/6J mice, subjected to standard ISCEV stimuli, was used to present the functionality of ERGtools2. ERGtools2 stores and organizes all recordings, metadata, and measurement information from an individual examination in a single object, maintaining raw data throughout the analysis process.</p><p><strong>Results: </strong>A standard workflow is presented exemplifying how ERGtools2 can be used to efficiently import, pre-process and analyse ERG data. Following this workflow, basic ERG measurements and visualisation of a single exam as well as group statistics are obtained. Moreover, special use cases are described, including for the handling of noisy data and the storage of data in the HDF5 format to ensure long-term preservation and accessibility.</p><p><strong>Conclusions: </strong>ERGtools2 provides a comprehensive, flexible, and device-independent solution for visual electrophysiology data analysis. Its emphasis on maintaining raw data integrity, combined with advanced processing and analysis capabilities, makes it a useful tool for preclinical and clinical research applications. The open-source nature and the use of open data formats promote reproducibility and data sharing in visual neurosciences.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"169-175"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983624","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}
Caroline Atef Tawfik, Haneen Sabry Aly, Menna Kabeel, Iman Yousri, Sara Abdallah Mohamed
{"title":"A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.","authors":"Caroline Atef Tawfik, Haneen Sabry Aly, Menna Kabeel, Iman Yousri, Sara Abdallah Mohamed","doi":"10.1007/s10633-025-10018-1","DOIUrl":"10.1007/s10633-025-10018-1","url":null,"abstract":"<p><strong>Purpose: </strong>To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI).</p><p><strong>Methods: </strong>A 4-year-old male patient of consanguineous Egyptian parents, who presented with progressive visual impairment and tooth decay underwent complete ophthalmological examination, dental, and systemic examination. Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of the macula, full field electroretinogram (ffERG) were obtained. Orthopantomogram (OPG) were also obtained. NGS-based gene panel testing was done in a commercial laboratory from a peripheral blood sample.</p><p><strong>Results: </strong>Fundus examination demonstrated typical features of CORD in the form of loss of foveal reflexes with macular retinal pigment epithelial mottling and atrophy reminiscent of bull's eye maculopathy. Dental assessment revealed evidence of AI. NGS-based gene panel identified a novel mutation in CNMM4 gene c.1423 G>A consistent with a diagnosis JS, thereby confirming the rare diagnosis.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first report of Jalili syndrome in Egypt. We are reporting a novel mutation in CNMM4 gene. We are also expanding the clinical spectrum of dental manifestation by reporting early eruption of the first permanent molars and suggesting that hyperopia could be a rather constant feature of JS. This case emphasizes the importance of comprehensive multidisciplinary assessment beyond visual complaints in IRD patients in order to reach an accurate diagnosis.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"189-196"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965806","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}