Acta Ophthalmologica最新文献

{"title":"Involvement of the neurokinin 1 receptor pathway in aniridia associated keratopathy: Evidence from pre-clinical models","authors":"Silvia Palombella,&nbsp;Philippe Fonteyne,&nbsp;Seyedehdina Javidjam,&nbsp;Giuseppe Suanno,&nbsp;Nicolò Bartolomeo,&nbsp;Gianluca Tilaro,&nbsp;Neil Lagali,&nbsp;Giulio Ferrari","doi":"10.1111/aos.16839","DOIUrl":"https://doi.org/10.1111/aos.16839","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>Aniridia is a rare ocular disorder characterized by the hypoplasia or absence of the iris associated with severe visual loss. Two-thirds of cases are generated by mutations in the PAX6 gene and are frequently associated with severe aniridia-associated keratopathy (AAK), which is characterized by pain, persistent epitheliopathy, corneal neovascularization and progressive loss of limbal stem cell function. The pathophysiology of AAK is still unclear; however, leukocyte infiltration and nerve degeneration have been reported. Substance P (SP) is a neuropeptide secreted by nerve fibers, immune and epithelial cells in the cornea and exerts its pro-inflammatory functions by binding to neurokinin-1 receptor (NK1R), promoting nerve activation, leukocyte chemotaxis and extravasation, thus contributing to the inflammatory response. In this context, the modulation of NK1R activation could be used as an innovative therapy to control inflammation and pain associated with AAK.</p>\u0000 \u0000 <p>Our main aim was to quantify the expression of NK1R and SP in the cornea of a PAX 6^+/− mouse model of AAK compared to unaffected animals at different ages. This model express PAX6 gene in heterozygosis and is characterized by iris hypoplasia, abnormal lens morphology, cataracts, corneal opacification, and incomplete separation of lens from the cornea, typical features associated with AAK patients. Corneal samples were collected from mice at different ages, that is 1 month old, 2 months old, 4 months old, and 7 months old, and immunohistochemistry was performed on cross-sections to quantify the expression of SP and NK1R. In the control samples, NK1R decreased over time albeit not significant. The expression level in the PAX6 ^+/− samples was comparable to controls at 1, 4, and 7 months old. However, the expression level of NK1R obtained from 2 months old mice was significantly higher compared not only to 1, 4 and 7 months old PAX6 ^+/− mice but also to all control groups (<i>p</i> &lt; 0.001). The same trend was observed also for SP. Indeed, SP was significantly more expressed in the corneas of 2 months old mice compared to other time points and also to control groups (<i>p</i> &lt; 0.01). These data confirm that the expression of SP goes together with the expression of NK1R during the development of healthy animals. Our data suggest that there may be a window of opportunity for the modulation of SP activity at 2 months of age. Future experiments will be performed in order to investigate the actual efficacy of NK1R blockade for the treatment of AAK.</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.16839","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116801","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":"Who will implement simulation-based education?","authors":"Ann Sofia Skou Thomsen","doi":"10.1111/aos.16921","DOIUrl":"https://doi.org/10.1111/aos.16921","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>In this talk, we will discuss who can benefit from simulation-based education, and how it is implemented in a \"Best Practice\" manner. We will also discuss the role of stake-holders. Real-life examples will be given.</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.16921","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116818","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":"Exploring retinal layer alterations in mild cognitive impairment: A pilot oct study","authors":"Lorena Elvira-Hurtado,&nbsp;Elena Salobrar-Garcia,&nbsp;Inés López-Cuenca,&nbsp;José A. Matamoros,&nbsp;José A. Fernández-Albarral,&nbsp;Lidia Sanchez-Puebla,&nbsp;Mario Salas-Carrillo,&nbsp;Pedro Gil,&nbsp;Rosa de Hoz,&nbsp;Juan Jose Salazar,&nbsp;Ana Isabel Ramírez,&nbsp;Jose Manuel Ramirez","doi":"10.1111/aos.17349","DOIUrl":"https://doi.org/10.1111/aos.17349","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> In the last decades, retinal alterations have been shown by OCT in Alzheimer's disease (AD), initially affecting the macular region in early AD, and subsequently progressing to the peripapillary retina, pointing out this tissue to be considered for diagnosis and follow-up in AD. This study aimed to investigate retinal changes in patients with mild cognitive impairment (MCI), an intermediate stage between normal aging and AD, to know if in this preclinical stage there are changes in the retina.</p>\u0000 \u0000 <p><b>Methods:</b> Sixteen healthy subjects and 16 MCI patients were included. All participants underwent comprehensive ophthalmic evaluation and macular OCT (SD-OCT, Heidelberg, Germany) to assess retinal structure. The thickness of each retinal layer in the macular area was measured using the OCT software, with manual verification and modification of segmentation if necessary. Thicknesses of retinal layers, including retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), and retinal pigment epithelium (RPE), were analyzed. The inner and outer macular rings were evaluated according to the standard macular grid of the Early Treatment Diabetic Retinopathy Study (ETDRS). Statistical analysis was performed using two-way ANOVA with Tukey´s multiple comparison test.</p>\u0000 \u0000 <p><b>Results:</b> Individuals with MCI exhibited significant thinning in the OPL in the inner ring of the superior sector (<i>p</i> &lt; 0.01), along with significant thickening in the ONL in the same area (<i>p</i> &lt; 0.05) compared to controls. Additionally, a trend towards thinning in the inner retinal layers was observed in the MCI group.</p>\u0000 \u0000 <p><b>Conclusions:</b> While in the inner retinal layers it was shown a thinning, it is noteworthy that in the ONL it was shown a thickening. OCT holds promise as a non-invasive tool for MCI screening. Further research with larger sample sizes is warranted to validate and expand upon these findings.</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.17349","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116826","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":"Gut microbial dysbiosis in age-related macular degeneration","authors":"Joëlle Vergroesen,&nbsp;Jeroen Vermeulen,&nbsp;Eric Thee,&nbsp;Bart Liefers,&nbsp;Caroline Klaver","doi":"10.1111/aos.17311","DOIUrl":"https://doi.org/10.1111/aos.17311","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Purpose:</b> The gut microbiome is highly influential in diseases with inflammatory components. Multiple studies showed a link between the gut microbiome and age-related macular degeneration (AMD). However, no consistent taxa have been reported.</p>\u0000 \u0000 <p><b>Methods:</b> We included 1372 participants from the Rotterdam Study (RS). AMD features (e.g. [reticular pseudo-]drusen, retinal pigment epithelium degeneration, and hyperpigmentation) were graded by human graders on color fundus photographs. Next, areas of these features were automatically quantified by a deep learning segmentation model. Stages were determined according to the RS classification (preliminary = 239, early-intermediate = 75, late = 6). Propensity score matching was performed on age, sex and BMI. Multivariable associations with taxonomic and functional profiles were assessed using zero-adjusted models (MaAsLin2; Compound Poisson). <i>p</i>-values were false discovery rate-adjusted (q-values). Taxa associated (q &lt; 0.25) with at least two out of seven AMD(-related) outcomes are reported.</p>\u0000 \u0000 <p><b>Results:</b> We observed no associations with alpha- or beta-diversity. Nineteen taxa were associated with AMD, of which 7 persisted after additional adjustment for dietary data. Eubacterium xylanophilum group, Lachnoclostridium, Faecalibacterium, Odoribacter splanchnicus and Parabacteroides distasonis were associated with an AMD phenotype. Parabacteroides and Akkermansia were inversely associated with an AMD phenotype. Moreover, 46 MetaCyc pathways were associated with AMD, of which 15 persisted after additional adjustment for dietary data. GLUCARDEG.PWY, PWY.5028, PWY.5347, PWY.5415, PWY.5532, PWY.5971, PWY.6969 and TCA were associated with an AMD phenotype. FOLSYN.PWY, LEU.DEG2.PWY, PANTO.PWY, PANTOSYN.PWY, PWY.6612, PWY0.1586 and PYRIDNUCSYN.PWY were inversely associated with an AMD phenotype.</p>\u0000 \u0000 <p><b>Conclusions:</b> Several gut microbiota were associated with an AMD phenotype. AMD pathophysiology might be linked to changes in gut-related metabolic pathways.</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.17311","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116833","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":"Correlation between dyslipidaemia and glaucoma risk: Insights from a population-based glaucoma screening (NCT 05875090)","authors":"Rafael Whitfield,&nbsp;Afonso Lima-Cabrita,&nbsp;Vasco Lobo,&nbsp;Bernardo Monteiro,&nbsp;Rodrigo Marques,&nbsp;Matilde Ourique,&nbsp;Inês Leal,&nbsp;Rafael Barão,&nbsp;Marta Pazos,&nbsp;Ingeborg Stalmans Stalmans,&nbsp;Luís Abegão-Pinto","doi":"10.1111/aos.17130","DOIUrl":"https://doi.org/10.1111/aos.17130","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> Glaucoma, a leading cause of irreversible blindness globally, is often associated with elevated intraocular pressure (IOP). However, other risk factors may play a role, particular vascular related parameters. This investigation aimed to explore the association between glaucoma and dyslipidaemia (DL) in participants in a primary care screening pilot. NCT 05875090</p>\u0000 \u0000 <p><b>Methods:</b> analysis at screening visit comparing the odds of a positive referral between participants with and without DL. Secondary outcomes were medication with statins. Positive referral was defined by IOP≥24mmHg or AI≥0.73. Descriptive and bivariate analyses were used to compare the glaucoma proportions and IOP/AI means between groups. Significance was set at <i>p</i> &lt; 0.05 with 95% confidence intervals (CI).</p>\u0000 \u0000 <p><b>Results:</b> Data from 839 participants (54% male, 62 ± 4 years) across 11 functional units were analysed. Many had low educational attainment (69%), diabetes (81,1%), hypertension (63,4%), and DL (66,2%). Among participants with DL, 7,38% had glaucoma positive outcome at screening. No difference in glaucoma odds was found between DL and non-DL patients (OR 0.782; CI 0.400-1.528), nor between DL patients medicated with statins compared to those non-medicated (OR 2.083; CI 0.597-7.276). Interestingly, DL may be associated with a positive referral due to high IOP (but not disc damage) when compared to non-DL subjects (OR 0.404; CI 0.155-1.055; <i>p</i> = 0.09), but further analyses with larger samples are needed.</p>\u0000 \u0000 <p><b>Conclusions:</b> Analysing the association between dyslipidaemia and glaucoma revealed a significant prevalence of DL, with 7,38% meeting positive referral criteria. While the study suggests a potential difference in glaucoma based on IOP between individuals with and without DL, this finding lacks statistical significance. Further analyses, including consideration of confounders and biases, are necessary for confirmation. Continued research and clinical observation are vital for a deeper understanding of this association.</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.17130","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116864","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":"Keratoconus from corneal degeneration to systemic disease: implications for treatment","authors":"Giulio Ferrari","doi":"10.1111/aos.16848","DOIUrl":"https://doi.org/10.1111/aos.16848","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>Keratoconus has been traditionally considered an ocular disaese, and, specifically, a non-inflammatory corneal degeneration.</p>\u0000 \u0000 <p>However, systemic comorbidities are associated with keratoconus in up to 50% of cases, and recent evidence is emerging that nutritional/metabolic inbalances are associated, and perhaps indispensable, co-factors in disease pathogenesis.</p>\u0000 \u0000 <p>Here, we will provide a review of current evidence, and our recent data, supporting a provocative hypothesis: keratoconus is the ocular manifestation of a systemic disease.</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.16848","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116892","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":"Development of a bioreactor to examine the response of corneal cells to fluid shear stress","authors":"Matthia Bonizzi","doi":"10.1111/aos.16945","DOIUrl":"https://doi.org/10.1111/aos.16945","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> Mechanical stimulation plays an important role in regulating cell behavior. While several studies have examined how corneal epithelial cells respond to mechanical stimuli such as fluidic shear stress, little is known about how keratocytes respond. The purpose of this study was to design a bioreactor system to determine the effect of shear stress on the behavior of corneal epithelial cells and keratocytes in an in-vitro 3D corneal hydrogel model.</p>\u0000 \u0000 <p><b>Methods:</b> A bioreactor chamber was made of PDMS containing 4 wells. 10 μl cell seeded hydrogels, consisting of 3.5 mg/ml collagen type I and 10 mM PEG (polyethylene-glycol) containing 5 x 10⁴ keratocytes, were added to each well to replicate the stroma. A 20 μm PCL (polycaprolactone) electrospun membrane was placed on top of each hydrogel and seeded with 1.6 x 10³ corneal epithelial cells. The chamber was connected to a pump system to allow fluid to pass over the hydrogels at specified flow rates. Several tests were performed to validate the bioreactor and examine the cell response to fluid shear stress.</p>\u0000 \u0000 <p><b>Results:</b> The bioreactor was successfully tested for hydraulic sealing and sterility maintenance. The shear stress was calculated using a simple mechanical model and validated using computational fluid dynamics software. Preliminary studies using collagen hydrogels showed a high degree of contraction so PEG was introduced to the hydrogels to assist in stabilization. The response of corneal epithelial cells to different rates of shear stress was examined by analyzing the expression of YAP (Yes-Associated-Protein) and ZO-1 (Zonula-occludens-1), both of which are known to be mechano-sensitive.</p>\u0000 \u0000 <p><b>Conclusions:</b> The bioreactor has been developed and validated to apply shear stress to corneal hydrogel models. Further studies will further evaluate the response of epithelial cells and keratocytes to fluid flow at different shear rates.</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.16945","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116984","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 association of mitochondria with inflammasome signaling in rpe cells","authors":"Anu Kauppinen","doi":"10.1111/aos.16830","DOIUrl":"https://doi.org/10.1111/aos.16830","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>Mitochondria are vital organelles especially in metabolically active retinal pigment epithelium (RPE) cells but in age-related macular degeneration, they are also a source of factors that increase the cell stress. It is well known that excessive amount of reactive oxygen species (ROS) activate NLRP3, a pattern-recognition receptor capable of forming inflammasomes. Inflammasomes are intracellular protein complexes that can result in the activation of two pro-inflammatory cytokines, IL-1beta and/or IL-18, and promote pyroptotic cell death. We have recently shown that mitochondrial DNA (mtDNA), released to the cytosol upon mitochondrial damage, serves also as an activator for inflammasome pathway in human RPE cells. Its receptor is AIM2 that is specialized to respond to double-stranded DNA. Danger signals from dysfunctional mitochondria can activate both inflammasome types in same cells and thereby further enhance the inflammatory response. Collectively, recent data suggest that aged and dysfunctional mitochondria are a major risk factor that contribute to retinal inflammation by promoting the activation of different types of inflammasomes in human RPE cells.</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.16830","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143117001","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":"Topographic determinants of anterior chamber angle narrowing in patients with keratoconus","authors":"Payam Nabovati,&nbsp;Hamed Soltan-Dehghan,&nbsp;Abdollah Farzaneh,&nbsp;Mehdi Khabazkhoob","doi":"10.1111/aos.17194","DOIUrl":"https://doi.org/10.1111/aos.17194","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Purpose:</b> To identify topographic determinants of the anterior chamber angle in a sample of patients with keratoconus.</p>\u0000 \u0000 <p><b>Methods:</b> Two hundred patients who visited a tertiary eye hospital and were diagnosed with keratoconus, were recruited for this study. First, complete ocular examinations were performed for all patients, including measurement of uncorrected distance visual acuity, objective and subjective refraction, and slit-lamp biomicroscopy. Then, all study participants underwent corneal imaging by the Pentacam rotating Scheimpflug imaging system. The keratoconus was diagnosed based on distorted keratometric mires, scissoring of retinoscopic reflex, abnormal corneal topography (inferior-superior asymmetry, focal or inferior steepening, or a bow-tie pattern with skewed radial axes &gt; 21°) consistent with keratoconus as well as the presence of at least one keratoconus biomicroscopic sign.</p>\u0000 \u0000 <p><b>Results:</b> The mean age of study participants was 32.40± 8.52 years (15-60 years) and 69.5% of them were male. No statistically significant difference was found in the anterior chamber angle between males and females (<i>p</i>-value = 0.447). There was a statistically significant inverse correlation between anterior chamber angle and age (r = -0.262, <i>p</i>-value &lt; 0.001). The mean anterior chamber angle was significantly different among different groups of cone morphology; patients with nipple cone had the lowest mean anterior chamber angle (<i>p</i>-value = 0.001). Moreover, there was a statistically significant difference in the mean anterior chamber angle among different groups of cone location; the lowest mean anterior chamber angle belonged to patients with central cones (<i>p</i> &lt; 0.001). Anterior and posterior Q-values were significantly directly correlated with anterior chamber angle (anterior Q: r = 0.122, <i>p</i>-value = 0.014, posterior Q: r = 0.192, <i>p</i>-value &lt; 0.001).</p>\u0000 \u0000 <p><b>Conclusions:</b> Keratoconus patients with nipple and central cones and more negative Q-values were more prone to anterior chamber angle narrowing. It is recommended that the risk of angle closure be taken into account in this group of patients for diagnostic and treatment procedures.</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.17194","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143117035","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":"Pseudoxanthoma elasticum: A case study of three family members","authors":"Candela Congost Laguna,&nbsp;Romana García Gil,&nbsp;Anselmo Feliciano Sánchez,&nbsp;Blanca Casado Peláez,&nbsp;Sergio Inat Moreno","doi":"10.1111/aos.17401","DOIUrl":"https://doi.org/10.1111/aos.17401","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> To evaluate the evolution and various clinical presentations of pseudoxanthoma elasticum in three family members.</p>\u0000 \u0000 <p><b>Methods:</b> Continuous follow-up was conducted in the outpatient ophthalmology clinics at our hospital. Clinical characteristics, including the presence of exudation, neovascular membranes, angioid streaks, and posterior pole atrophy, were documented and analyzed through detailed ophthalmological examinations and imaging tests. Visual acuity was assessed, and autofluorescence imaging was performed. Additionally, optical coherence tomography (OCT) and OCT angiography (OCT-A) were utilized to obtain high-resolution images of the retina and its blood flow.</p>\u0000 \u0000 <p><b>Results:</b> One daughter presented with exudation accompanied by a neovascular membrane, which was treated with intravitreal anti-VEGF injections. The other daughter maintains good vision and shows angioid streaks in the fundus without macular involvement. The mother is in an advanced stage of the disease, with significant retinoschisis and posterior pole atrophy.</p>\u0000 \u0000 <p><b>Conclusions:</b> This case study highlights the variability in the presentation and progression of pseudoxanthoma elasticum within the same family. Continuous and personalized follow- up is crucial for the appropriate management and early detection of complications in PXE patients.</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.17401","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143117068","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}