Acta Ophthalmologica最新文献

{"title":"Identification of clinical protein markers correlated to the impairment of the lacrimal and meibomian glands in the progression of dry eye syndrome","authors":"Natarajan Perumal,&nbsp;Anna Lindner,&nbsp;Adina Glassmacher,&nbsp;Bettina Multani,&nbsp;Hao Lin,&nbsp;Caroline Manicam","doi":"10.1111/aos.17217","DOIUrl":"https://doi.org/10.1111/aos.17217","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> Dry eye syndrome (DES) is a multifactorial pathology of the ocular surface, characterized by disruption of tear film homeostasis. Although prevalent, distinct clinical biomarkers associated with the impairment of the lacrimal (LG) and meibomian glands (MG) that exacerbate the progression of DES are still largely lacking. This study was conducted to identify potential DES markers for precise clinical diagnosis.</p>\u0000 \u0000 <p><b>Methods:</b> Subjects underwent a battery of clinical examinations including the basic secretory test <i>via</i> Schirmer I to evaluate the functional impairment of the LG that leads to aqueous-deficient DES (DRYaq). Meanwhile, tear break-up time (TBUT) test was used to evaluate the impairment status of the MG, which leads to evaporative DES (DRYlip). Next, the tear samples (N = 307) were analyzed individually employing mass spectrometry-based proteomics, followed by in-depth statistical and bioinformatics analyses.</p>\u0000 \u0000 <p><b>Results:</b> A total of 47 proteins, largely secreted by the LG and annotated to antibacterial response (<i>p</i> = 5.0 × 10^-9) were found to be significantly (<i>p</i> &lt; 0.01) decreased in abundance with the progression of DRYaq, namely LTF (<i>r</i> = -0.79), PROL1 (<i>r</i> = -0.64) and AZGP1 (<i>r</i> = -0.58). On the contrary, as many as 360 proteins were found to be significantly increased in abundance with the progression of DRYaq, namely SFN (<i>r</i> = +0.68), ORM2 (<i>r</i> = +0.67) and TXN (<i>r</i> = +0.66). These proteins are annotated to various biological functions, especially inflammatory response (<i>p</i> = 3.0 × 10^-17), apoptosis (<i>p</i> = 2.1 × 10^-29) and synthesis of reactive oxygen species (<i>p</i> = 3.7 × 10^-29). Only 26 proteins were found to be significantly expressed with the progression of DRYlip, namely ACTN2 (<i>r</i> = -0.33) and ARG1 (<i>r</i> = +0.48). These proteins are exclusively annotated to anti-inflammatory response (<i>p</i> = 8.1 × 10^-5), citrulline biosynthesis (<i>p</i> = 4.5 × 10^-3) and IL-15 signaling (<i>p</i> = 2.5 × 10^-4).</p>\u0000 \u0000 <p><b>Conclusions:</b> For the first time, our study analyzed the proteome of the largest number of individual tear samples in a clinical setting. Importantly, we identified progressive changes in the expression of specific protein markers correlated to the functionality of the LG and MG that could be potentially leveraged for future development of improved clinical diagnosis and targeted therapeutic interventions to ameliorate DES in a personalized manner.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17217","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143117104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinal oxygen extraction during systemic hypoxia assessed with laser-speckle flowgraphy and retinal oximetry","authors":"Viktoria Pai,&nbsp;Theresa Lindner,&nbsp;Patrick Janku,&nbsp;Leopold Schmetterer,&nbsp;Doreen Schmidl,&nbsp;Gerhard Garhöfer","doi":"10.1111/aos.17326","DOIUrl":"https://doi.org/10.1111/aos.17326","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> Retinal oxygen extraction has been found to be altered in several ocular and systemic diseases, such as diabetic retinopathy, glaucoma or neurodegenerative diseases. However, measurement techniques for the assessment of retinal oxygen extraction are limited because most of them are based on time-consuming and custom-built devices. In the present pilot study, we assessed retinal oxygen extraction during systemic hypoxia with a combination of two commercially available devices: Laser-Speckle Flowgraphy (LSFG) and retinal oximetry.</p>\u0000 \u0000 <p><b>Methods:</b> Retinal blood flow and retinal oxygen saturation were measured in each vessel around the optic nerve head at the same position. Arterial and venous oxygen content was estimated from the measured retinal oxygen saturation parameters and the difference between these two parameters was calculated (cO₂,_DIFF). By using mean vessel flow rate (MV) for retinal blood flow and cO₂,_DIFF, retinal oxygen extraction was determined. For each healthy study participant, baseline measurement and measurement during inhalation of 88% nitrogen in 12% oxygen were performed.</p>\u0000 \u0000 <p><b>Results:</b> Ten (10) healthy subjects (4 females, 6 males) with a mean age of 27 ± 3 years were included in this study. During systemic hypoxia, a significant decrease in arterial oxygen content occurred (<i>p</i> = 0.046) while venous oxygen content did not change, leading to a decrease in cO₂,_DIFF. As expected, this was accompanied by a significant increase in MV (<i>p</i> = 0.014). No change in retinal oxygen extraction was observed (46 ± 8 a.u. at baseline vs. 46 ± 5 a.u. during hypoxia, <i>p</i> = 0.997).</p>\u0000 \u0000 <p><b>Conclusions:</b> Breathing of 88% nitrogen in 12% oxygen caused a significant decrease in retinal arterial oxygen content. This was compensated by an increase in retinal blood flow in order to keep retinal oxygen extraction constant. This was physiologically expected, and these findings are consistent with the literature. Therefore, the presented approach for measurement of retinal oxygen extraction appears to be feasible.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17326","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143117117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LCHAD chorioretinopathy case series long-time follow up","authors":"Magdalena Hubert,&nbsp;Maciej Gawęcki","doi":"10.1111/aos.17370","DOIUrl":"https://doi.org/10.1111/aos.17370","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose</b>: The aim of this study is the present a long-time follow up of patients with LCHAD deficiency – ocular findings and it's evolution.</p>\u0000 \u0000 <p><b>Methods</b>: The study included a group of 8 patients diagnosed with LCHAD deficiency, confirmed by genotyping as a mutation in HADHA gene c.1528 G &gt; C. Patients were evaluated yearly, since 2013 to 2024. Examination included slit-lamp examination, best corrected vision acuity, sOCT, fundus imaging and visual field – if possible to obtain. Patients were questioned about events of metabolic decompensation that required hospital treatment in the period of time since previous ophthalmological evaluation.</p>\u0000 \u0000 <p><b>Results</b>: Progressive deterioration of BCVA along with progressive myopia were observed. The loss of vision usually progressed rapidly and was unsymmetrical, thus usually unnoticed by the patient if the fellow eye maintained good vision acuity. The deterioration of the vision acuity was accompanied by presence of central scotoma, progression of myopia, chorioretinal thinning and in some cases forming of staphyloma. Pigment accumulation in the foveal area and in the central area was not associated with the vision deterioration or visual field loss. In 2 cases MNV occurred, followed by macular scarring in one patient. MNV if treated by anti-VEGF injections without a delay responded very well, 2-3 injections were needed to maintain the deasease inactive. Positive scotomas were associated with macular hemorhage. Bad metabolic status recognized by repeated necessity of in ward treatment due to metabolic decompensations was associated with progressive chorioretinopathy and it's complications.</p>\u0000 \u0000 <p><b>Conclusions</b>: Presence of the metabolic decompensations requires ophthalmological vigilance as it is a main factor for visual deterioration. The chorioretinal thinning is followed by staphyloma and progressive myopia. MNV can be successfully treated in those patients but evaluation should be done monthly afterwards.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17370","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143117221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between social deprivation and glaucoma-related quality of life (QOL)","authors":"Ryan Teo,&nbsp;Kleonikos Tsakiris","doi":"10.1111/aos.17119","DOIUrl":"https://doi.org/10.1111/aos.17119","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;p&gt;&lt;b&gt;Aims/Purpose:&lt;/b&gt; Glaucoma carries a considerable global health burden. As it is generally accepted that glaucoma is incurable, it is critical to maintain or improve the QOL of afflicted patients.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;Social deprivation is known to be associated with poor vision. However, less is known about the relationship between social deprivation and its impact on glaucoma-related QOL.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;It must be noted that QOL is an entirely different concept as a glaucoma patient with poor vision could still maintain a good vision-related QOL.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The purpose of this project was to identify a potential gap in the provision of care for socially deprived glaucoma patients and advance the European Glaucoma Society's aim of glaucoma treatment, which is to maintain QOL in affected patients at a sustainable cost.&lt;/p&gt;\u0000 \u0000 &lt;div&gt;&lt;b&gt;Methods:&lt;/b&gt; The research study included:\u0000 &lt;ul&gt;\u0000 \u0000 &lt;li&gt;Systematic Literature Review to determine the best instruments to measure social deprivation and glaucoma-related QOL&lt;/li&gt;\u0000 \u0000 &lt;li&gt;Patient Questionnaire Study (280 patients) to investigate the correlation between social deprivation and glaucoma-related QOL&lt;/li&gt;\u0000 \u0000 &lt;li&gt;Statistical Analysis of the results from the Patient Questionnaire Study&lt;/li&gt;\u0000 &lt;/ul&gt;\u0000 &lt;/div&gt;\u0000 \u0000 &lt;p&gt;It was decided that the best tool to assess social deprivation was the Scottish Index of Multiple Deprivation (SIMD) and the best instrument to measure glaucoma-related QOL in this context was the 25-item National Eye Institute Visual Functioning Questionnaire (VFQ-25).&lt;/p&gt;\u0000 \u0000 &lt;p&gt;&lt;b&gt;Results:&lt;/b&gt; 280 patients, 142 males and 138 females, undertook the questionnaire.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The mean age was 73, all of Caucasian race.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;Those with lower SIMD scores (more socially deprived) reported lower VFQ-25 scores (lower quality of life).&lt;/p&gt;\u0000 \u0000 &lt;p&gt;Statistical analysis established that Pearson correlation coefficient r = 0.535 with &lt;i&gt;p&lt;/i&gt;-value = 0.011&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The significance threshold was set at 0.05 for the &lt;i&gt;p&lt;/i&gt;-value.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;&lt;b&gt;Conclusions:&lt;/b&gt; This study has now established that greater social deprivation leads to a lower glaucoma-related QOL, which encompasses the physical, psychological, emotional and social well-being of the patient.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;This is extremely useful as it highlights that more can and should be done to help socially deprived glaucoma patients. The research poster proposes some measures to implement to help improve the overall well-being of socially deprived glaucoma patients, and thereby maintain their independence and QO","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17119","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143117317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Marginal keratitis after intravitreal injection of bevacizumab","authors":"Clara Lara Aroco,&nbsp;María de los Ángeles Ibáñez Ruiz,&nbsp;Silvia Beatriz De Miguel Martín,&nbsp;Rosa María Jiménez Escribano","doi":"10.1111/aos.17201","DOIUrl":"https://doi.org/10.1111/aos.17201","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> To report a case of marginal keratitis that developed after intravitreal bevacizumab (Avastin) injection.</p>\u0000 \u0000 <p><b>Methods:</b> A 88-year-old woman with Age-related macular degeneration (AMD) and macular edema in both eyes received four intravitreal injection of bevacizumab (Avastin) in left eye and five in right eye. No previous history of herpes.</p>\u0000 \u0000 <p><b>Results:</b> Two days following the fifth injection of Avastin in the patient's right eye, she experienced sensations akin to having a foreign body, accompanied by redness and a decrease in visual acuity in that eye. Examination with a slit lamp revealed peripheral infiltrates beneath the corneal epithelium, delineated from the limbus by a clear zone. Additionally, there was corneal edema with folds in the endothelium and a mild anterior chamber reaction. No presence of hypopyon was noted. The patient's symptoms showed favorable response to topical steroid and topic and oral antibiotic medications</p>\u0000 \u0000 <p><b>Conclusions:</b> The intravitreal administration of bevacizumab carries a risk of inducing hypersensitivity reactions like marginal keratitis. To our knowledge, this is the first documented account of marginal keratitis after intravitreal bevacizumab injection.</p>\u0000 \u0000 <div><b>References</b><ol>\u0000 \u0000 <li>Farrell DA, Deacon S, Mauger T. \"Marginal keratitis following COVID 19 vaccination\". IDCases. 2022 Jun 15; 29: e01536. doi: 10.1016/j.idcr.2022.e01536. PMID: 35756698; PMCID: PMC9212909</li>\u0000 \u0000 <li>Aslan Bayhan S, Bayhan HA, Adam M, Gürdal C. Marginal keratitis after intravitreal injection of ranibizumab. Cornea. 2014 Nov; 33(11): 1238-9. doi: 10.1097/ICO.0000000000000255. PMID: 25222003</li>\u0000 </ol>\u0000 </div>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17201","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abnormal findings","authors":"Anton Hommer","doi":"10.1111/aos.16907","DOIUrl":"https://doi.org/10.1111/aos.16907","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>The aim of this part is to show the difference between normal and abnormal findings in the angle. In addition grading systems and their therapeutic consequences will be discussed.</p>\u0000 \u0000 <p>Congenital disorders and acquired diseases affecting the eye and angle will be shown. The clinical findings will be discussed as well its context of recent advances in glaucoma surgery with microsurgical techniques requiring intraoperative gonioscopy for implants.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16907","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of time to idebenone initiation on visual acuity in leber hereditary optic neuropathy: Post hoc analysis of the leros study","authors":"Valerio Carelli,&nbsp;Patrick Yu-Wai-Man,&nbsp;Xavier Llòria,&nbsp;Magda Joana Silva,&nbsp;Thomas Klopstock","doi":"10.1111/aos.17006","DOIUrl":"https://doi.org/10.1111/aos.17006","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> It is not yet established whether time of idebenone treatment initiation from symptom onset (T_i) impacts the clinical outcome of patients with Leber hereditary optic neuropathy (LHON). LEROS, a Phase IV, open-label, international, natural-history controlled study (NCT02774005), assessed the long-term efficacy of idebenone in the treatment of LHON.¹ In this post-hoc analysis of LEROS study data, we report visual acuity (VA) endpoints by T_i.</p>\u0000 \u0000 <p><b>Methods:</b> VA endpoints at last visit were assessed as previously described, in idebenone-treated eyes from the LEROS study with an observation time of 12–24 months (m) and a m.11778G &gt; A mitochondrial DNA mutation.¹ In this post-hoc analysis, eyes were stratified by T_i. No statistical comparisons were performed.</p>\u0000 \u0000 <p><b>Results:</b> Median [range, <i>n</i>] age at baseline was similar regardless of T_i (0–3m: 32.2y [12.6–49.6, 10]; 3–6m: 36.2y [12.6–62.5, 21]; 6–9m: 37.4y [12.6–64.5, 20]; 9–12m: 33.0y [19.5–49.6, 19]; 12–24m: 32.4y [12.1–60.2, 44]; &gt; 24m: 34.7y [12.4–62.4, 61]). VA endpoints at last visit were also similar regardless of T_i; however, minor differences were observed. Eyes that were 3–6m from symptom onset at treatment initiation had the best median [interquartile range (IQR)] VA at last visit (0–3m: 1.27 [0.40–1.68]; 3–6m: 1.22 [0.30–1.80]; 6–9m: 1.40 [1.02–1.56]; 9–12m: 1.52 [0.98–1.60]; 12–24m: 1.39 [0.58–1.74]; &gt; 24m: 1.32 [0.90–1.62]) and the best median [IQR] VA change from last visit to baseline (0–3m: 0.08 [-0.20–0.62]; 3–6m: -0.20 [-0.46–0.10]; 6–9m: -0.11 [-0.19–0.00]; 9–12m: -0.10 [-0.48– -0.04]; 12–24m: -0.09 [-0.47–0.00]; &gt; 24m: -0.06 [-0.18–0.00]).</p>\u0000 \u0000 <p><b>Conclusions:</b> LEROS study data provides important insights into the impact of time of treatment initiation on VA outcome. However, given the small number of eyes and large variation in the data, caution must be taken in interpreting these results.</p>\u0000 \u0000 <p><b>References</b></p>\u0000 \u0000 <p>1. Yu-Wai-Man P <i>et al. Cell Rep Med</i>. 2024;5:101437.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole genome sequencing requested directly from a multi-ethnic london adult retinal clinic","authors":"Dost Jabarkhyl,&nbsp;Mrunmayi Jeste,&nbsp;Isabelle Chow,&nbsp;Moin Mohamed,&nbsp;Omar Mahroo","doi":"10.1111/aos.17040","DOIUrl":"https://doi.org/10.1111/aos.17040","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> Physicians in the UK can now request whole genome sequencing (WGS) for suspected inherited retinal disease (IRD), funded by a National Genomic Medicine Service. Achieving genetic diagnoses can be more challenging for ethnicities with lower representation in reference genomes. We report initial results from a specialist adult retinal service, with no prior experience of direct genetic testing from clinic.</p>\u0000 \u0000 <p><b>Methods:</b> WGS was undertaken with screening of a virtual panel of known IRD-associated genes. Exceptions to WGS included suspected albinism and pseudoxanthoma elasticum, where targeted sequencing was undertaken of albinism-associated genes or <i>ABCC6</i> respectively.</p>\u0000 \u0000 <p><b>Results:</b> To date, results for 28 patients (mean (SD) age, 51 (17) years; 17 females) from 27 families have been received. Ethnicities were white European (13), African (9), South Asian (3), and mixed (3). Reports were positive in 15 cases (variants in <i>ABCA4, BEST1, USH2A</i>, <i>TYR</i>, <i>COL18A1</i>, <i>RHO</i>, <i>ABCC6</i>, <i>PRPF8, CRB1, EFEMP1, NR2E3, CNGB3, CERKL</i>) and were consistent with the clinical phenotype. Ten reports were negative and 3 were inconclusive. In 2 of the latter, the phenotype was sufficiently specific (Bietti crystalline dystrophy and Oguchi disease) to allow attribution of disease to variants found in <i>CYP4V2</i> and <i>GRK1</i> respectively. Of 17 patients achieving a genetic diagnosis, 9 were white European, 6 were of African origin, 1 South Asian, and 1 of mixed ethnicity). Mean (SD) time between patient consent and report availability was 9.0 (2.5) months.</p>\u0000 \u0000 <p><b>Conclusions:</b> In this analysis of tests performed so far from a clinic serving a multi-ethnic patient population, a molecular diagnosis was achieved in 61% of patients. The phenotype continues to be important for correctly interpreting genetic data. Achieving genetic diagnosis allows confirmation of genetic aetiology, more informed counselling relating to risk to children, and determines eligibility for the increasing number of gene-directed experimental therapies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17040","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical detachment of irido- and lenticulocorneal adhesions in peters anomaly","authors":"Elsa-Leea Kotola,&nbsp;Joni A. Turunen,&nbsp;Päivi Lindahl,&nbsp;Kari Krootila,&nbsp;Anna Majander","doi":"10.1111/aos.16942","DOIUrl":"https://doi.org/10.1111/aos.16942","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> To report anatomical and visual acuity outcome of surgical detachment of iridocorneal or lenticulocorneal adhesions in pediatric patients with Peters anomaly.</p>\u0000 \u0000 <p><b>Methods:</b> An observational study of pediatric patients with Peters anomaly treated with surgical detachment of iridocorneal or lenticulocorneal adhesions between 2011 and 2024 at the Helsinki University Hospital. Ocular and extraocular diagnoses, age, sex, best corrected visual acuity (BCVA), intraocular pressure, ocular surgeries, surgical complications, family history, genetics and anterior segment optical coherence tomography data were collected from the medical records.</p>\u0000 \u0000 <p><b>Results:</b> Fourteen eyes from nine patients underwent the surgery. The median age at the time of surgery was 14 months (range 5-56) and the median follow-up period was 156 months (range 6-166). Of the treated eyes, 12 had iridocorneal adhesions, while two eyes also had lenticulocorneal adhesions. No surgical complications were reported. Anterior segment anatomy and corneal clarity were stable or improved during the follow-up. Among the fourteen eyes, three eyes achieved a BCVA better than 0.3 (Snellen decimal), while none had a BCVA worse than 0.05. BCVA was not available for three treated eyes due to the patients' young age. The following additional ocular conditions were recorded: microphthalmia, cataract, glaucoma, retinal degeneration, nystagmus, corectopia and strabismus. Four eyes underwent further ocular surgeries, such as cataract surgery with intraocular lens implantation, anterior vitrectomy, pupilloplasty, and temporal iridectomy. Five patients had systemic findings. Pathogenic variants in the <i>PITX3</i> and <i>RARB</i> genes were detected in three patients and one patient, respectively.</p>\u0000 \u0000 <p><b>Conclusions:</b> This study demonstrates that surgical detachment of irido- and even lenticulocorneal adhesions in Peters anomaly is safe and results stable anatomical and visual acuity outcome over the period of critical visual development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16942","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurovascular coupling response: A follow-up study","authors":"João Jordão,&nbsp;Sérgio Rodrigues,&nbsp;Joana Domingues,&nbsp;Pedro Serranho,&nbsp;Pedro Guimarães,&nbsp;Rui Bernardes","doi":"10.1111/aos.17276","DOIUrl":"https://doi.org/10.1111/aos.17276","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> This work aims to assess the consistency of the neurovascular coupling (NVC) response of a healthy subject group at two visits 5 months apart.</p>\u0000 \u0000 <p><b>Methods:</b> Fundus images (4x4 degrees) of the macular region (3 baseline acquisitions and 3 acquisitions each preceded by flicker stimulation) of 13 healthy adults (one eye each, age (m+/-sd): 33.08+/-11.4 yrs.) were acquired with the rtx1 AO camera (ImagineEyes, Orsay, France). The rtx1 was configured for a 20 second, 15Hz, and 4 μW.cm^(-2) flicker stimulation over a 29x20 degrees area of the imaged eye fundus. Acquisitions for each subject were repeated 159+/-17 (m+/-sd) days later.</p>\u0000 \u0000 <p>The lumen of retinal arterioles within the macular region was determined using custom-developed software for the automatic segmentation of lumen-wall interfaces. An experienced technician visually assessed all segmentations to reject subpar results. Lumen diameters were calculated from the distance between the lumen-wall interfaces as measured perpendicular to the vessel axis along a vessel segment. NVC responses were calculated per eye as the relative difference (%) of the lumen diameter after stimulation to the respective baseline.</p>\u0000 \u0000 <p><b>Results:</b> A total of 22 out of 156 images (14%) were rejected and excluded from further analysis. NVC responses ranged from 0.21% to 8.28% (3.36+/-2.75 % (m+/-sd)) for the first visit and from -0.24% to 9.13% (3.03+/-2.54 %) for the follow-up. Response differences between time points ranged from -6.15% (8.28% to 2.13%) to 4.21% (0.98% to 5.19%), with an average (sd) of 0.34(3.03) % for the group. A paired sample Wilcoxon test between time points is not statistically significant (<i>p</i> = 0.650), supporting that the responses are consistent between time points.</p>\u0000 \u0000 <p><b>Conclusions:</b> The obtained results show a consistent NVC response for a 5-month interval.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17276","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}