Search Results (180)

Background: The long-term clinical and laboratory results of a 33-year follow-up of a Greek family with abetalipoproteinemia (ABL) are described. Case Report: The patients (two brothers and their sister, aged 57, 49, and 62 years, respectively) are still alive, being under close surveillance. In two of the three patients, diarrhea appeared in early infancy, while in the third, it appeared during adolescence. CNS symptomatology worsened after the second decade of life. At the same time, night blindness appeared in the advanced stages of the disease, resulting in almost complete loss of vision in one of the male patients and severe impairment in the other. The diagnosis was based on the clinical picture, ophthalmological findings, serum lipid estimations, and presence of peripheral acanthocytosis. All patients exhibited typical serum lipidemic profile, ophthalmological findings, and acanthocytes in the peripheral blood. During the follow-up period, strict dietary modifications were applied, including the substitution of fat with medium-chain triglycerides (MCT oil). After 33 years since the initial diagnosis, all patients are alive without any sign of liver dysfunction despite continuous use of MCT oil. However, symptoms from the central nervous system and vision impairment worsened. Conclusion: The course of these patients suggests that the application of a modified diet, including MCT oil, along with close surveillance, could prolong the survival of patients without significant side effects from the liver. Full article

Neural networks (NNs) achieve breakthroughs in computer vision and natural language processing, yet their “black box” nature persists. Traditional methods prioritise parameter optimisation and loss design, overlooking NNs’ fundamental structure as topologically organised nonlinear computational systems. This work proposes a complex network theory framework decoding structure–function coupling by mapping convolutional layers, fully connected layers, and Dropout modules into graph representations. To overcome limitations of heuristic compression techniques, we develop a topology-sensitive adaptive pruning algorithm that evaluates critical paths via node strength centrality, preserving structural–functional integrity. On CIFAR-10, our method achieves 55.5% parameter reduction with only 7.8% accuracy degradation—significantly outperforming traditional approaches. Crucially, retrained pruned networks exceed original model accuracy by up to 2.63%, demonstrating that topology optimisation unlocks latent model potential. This research establishes a paradigm shift from empirical to topologically rationalised neural architecture design, providing theoretical foundations for deep learning optimisation dynamics. Full article

Minimally invasive cosmetic procedures, such as dermal fillers, botulinum toxin injections, autologous fat grafting, intense pulsed light (IPL) treatments, and platelet-rich plasma (PRP) treatments, are increasingly popular worldwide due to their convenience and aesthetic benefits. While generally considered safe, these procedures can result in rare but serious ophthalmological complications. The most catastrophic adverse events include central retinal artery occlusion and ischemic optic neuropathy, which may lead to irreversible vision loss. Other complications include diplopia, ptosis, dry eye, and orbital cellulitis, with varying degrees of severity and reversibility. Awareness of potential ocular risks, appropriate patient selection, and adherence to safe injection techniques are crucial for preventing complications. This narrative review summarizes the incidence, mechanisms, clinical features, risk factors, diagnostic approaches, and management strategies of ocular complications associated with aesthetic medical procedures. A narrative literature review was conducted, emphasizing data from clinical studies, case series, and expert consensus published between 2015 and 2025. Special attention is given to anatomical danger zones, the pathophysiological pathways of filler embolization, and the roles of hyaluronidase and hyperbaric oxygen therapy in acute management. Although many complications are self-limited or reversible, prompt recognition and intervention are critical to prevent permanent sequelae. The increasing prevalence of these procedures demands enhanced education, informed consent, and interdisciplinary collaboration between aesthetic providers and ophthalmologists. Full article

Visual field (VF) testing remains a cornerstone in assessing retinal function by measuring how well different parts of the retina detect light. It is essential for early detection, monitoring, and management of many retinal diseases. By mapping retinal sensitivity, VF exams can reveal functional loss before structural changes become visible. This review summarizes how VF testing is applied across key conditions: hydroxychloroquine (HCQ) retinopathy, age-related macular degeneration (AMD), diabetic retinopathy (DR) and macular edema (DME), and inherited disorders including inherited dystrophies such as retinitis pigmentosa (RP). Traditional methods like the Goldmann kinetic perimetry and simple tools such as the Amsler grid help identify large or central VF defects. Automated perimetry (e.g., Humphrey Field Analyzer) provides detailed, quantitative data critical for detecting subtle paracentral scotomas in HCQ retinopathy and central vision loss in AMD. Frequency-doubling technology (FDT) reveals early neural deficits in DR before blood vessel changes appear. Microperimetry offers precise, localized sensitivity maps for macular diseases. Despite its value, VF testing faces challenges including patient fatigue, variability in responses, and interpretation of unreliable results. Recent advances in artificial intelligence, virtual reality perimetry, and home-based perimetry systems are improving test accuracy, accessibility, and patient engagement. Integrating VF exams with these emerging technologies promises more personalized care, earlier intervention, and better long-term outcomes for patients with retinal disease. Full article

Stargardt’s disease (STGD1) is an autosomal recessive juvenile macular degeneration caused by mutations in the ABCA4 gene, impairing clearance of toxic retinoid byproducts in the retinal pigment epithelium (RPE). This leads to lipofuscin accumulation, oxidative stress, photoreceptor degeneration, and central vision loss. Over 1200 pathogenic/likely pathogenic ABCA4 variants highlight the genetic heterogeneity of STGD1, which manifests as progressive central vision loss, with phenotype influenced by deep intronic variants, modifier genes, and environmental factors like light exposure. ABCA4 variants also show variable penetrance and geographical prevalence. With no approved treatment, investigational therapies target different aspects of disease pathology. Small-molecule therapies target vitamin A dimerization (e.g., ALK-001), inhibit lipofuscin accumulation (e.g., soraprazan), or modulate the visual cycle (e.g., emixustat hydrochloride). Gene therapy trials explore ABCA4 supplementation including strategies like RNA exon editing (ACDN-01) and bioengineered ambient light-activated OPSIN. RORA gene therapy (Phase 2/3) addresses oxidative stress, inflammation, lipid metabolism, and complement system dysregulation. Trials like DRAGON (Phase 3, tinlarebant), STARLIGHT (phase 2, bioengineered OPSIN) show promise, but optimizing efficacy remains challenging. With the key problem of establishing genotype–phenotype correlations, the future of STGD1 therapy may rely on approaches targeting oxidative stress, lipid metabolism, inflammation, complement regulation, and genetic repair. Full article

Background: Arachnoid cysts are typically benign and asymptomatic, but large cysts can exert a mass effect on adjacent neural structures. Based on the available literature, no cases of cortical visual impairment (CVI) in an adolescent caused by posterior fossa arachnoid cysts have been reported. Case presentation: We report the case of a previously healthy 16-year-old girl who presented with sudden and rapidly progressive bilateral visual loss due to a large retrocerebellar arachnoid cyst. She reported blurred vision, tunnel vision-like, and decreased visual acuity. Although neuro-ophthalmologic and imaging workup revealed no damage to the anterior visual pathways, she exhibited progressive visual decline. Functional tests confirmed bilateral cortical visual impairment: pattern-reversal visual evoked potentials (VEPs) showed preserved and symmetric P100 latencies and amplitudes, while automated perimetry revealed bilateral concentric visual field constriction with preserved central islands. Following cystoperitoneal drainage, her vision rapidly and completely recovered. Conclusions: To the best of our knowledge, this is the first reported case of reversible CVI in an adolescent caused by a posterior fossa arachnoid cyst without intracranial pressure (ICP) elevation or optic nerve involvement, and with tunnel vision-like. Our findings emphasize the role of posterior fossa lesions in visual dysfunction and highlight the potential reversibility of cortical visual loss when timely decompression is achieved. This case underscores the importance of including posterior fossa lesions in the differential diagnosis of unexplained bilateral visual loss, even in the absence of elevated intracranial pressure or anterior visual pathway involvement. Full article

Background: Age-related macular degeneration (AMD) is one of the leading causes of permanent vision loss in the elderly, particularly in higher-income countries. Fundus autofluorescence (FAF) imaging is a widely used, non-invasive technique that complements structural imaging in the assessment of retinal pigment epithelium (RPE) integrity. While optical coherence tomography (OCT) remains the gold standard for retinal imaging due to its high-resolution cross-sectional visualization, FAF offers unique metabolic insights. Among the FAF modalities, blue light FAF (B-FAF) is more commonly employed, whereas green light FAF (G-FAF) provides subtly different image characteristics, particularly improved visualization and contrast in the central macula. Despite identical acquisition times and nearly indistinguishable workflows, G-FAF is notably underutilized in clinical practice. Objectives: This narrative review critically compares green and blue FAF in terms of their diagnostic utility relative to OCT, with a focus on lesion detectability, macular pigment interference, and clinical decision-making in retinal disorders. Methods: A comprehensive literature search was performed using the PubMed database for studies published prior to February 2025. The search utilized the keywords fundus autofluorescence and age-related macular degeneration. The primary focus was on short-wavelength FAF and its clinical utility in AMD, considering three aspects: diagnosis, follow-up, and prognosis. The OCT findings served as the reference standard for anatomical correlation and diagnostic accuracy. Results: Both FAF modalities correlated well with OCT in detecting RPE abnormalities. G-FAF demonstrated improved visibility of central lesions due to reduced masking by macular pigment and enhanced contrast in the macula. However, clinical preference remained skewed toward B-FAF, driven more by tradition and device default settings than by evidence-based superiority. G-FAF’s diagnostic potential remains underrecognized despite its comparable practicality and subtle imaging advantages specifically for AMD patients. AMD stages were accurately characterized, and relevant images were used to highlight the significance of G-FAF and B-FAF in the examination of AMD patients. Conclusions: While OCT remains the gold standard, FAF provides complementary information that can guide management strategy. Since G-FAF is functionally equivalent in acquisition, it offers slight advantages. Broader awareness and more frequent integration of G-FAF that could optimize multimodal imaging strategies, particularly in the intermediate stage, should be developed. Full article

Purpose: Standard automated perimetry (SAP) remains the gold standard functional test in glaucoma, used primarily for evaluating peripheral vision loss. Central contrast sensitivity (CCS) has emerged as a potential early functional marker of glaucomatous damage. This systematic review aimed to describe the different methods used to measure CCS in randomized controlled trials (RCT) involving glaucoma patients. Methods: We searched the MEDLINE, Embase, CINAHL, Cochrane Central Register of Controlled Trials, Epistemonikos, and ClinicalTrials.gov databases on 25 January 2023, and updated the search on 12 February 2025. Eligible studies comprised RCTs that reported CCS as an outcome in patients with glaucoma, suspected glaucoma, or ocular hypertension. No restrictions were placed on age, sex, ethnicity, geography, intervention, or publication year. Abstracts and full texts were screened independently by two reviewers. Descriptive statistics were used. No formal risk of bias assessment was performed, due to the descriptive nature of the review. Results: Of 1066 records screened, 31 studies met the eligibility criteria. The study sample size ranged from 7 to 207 (median: 23), with most studies involving primary open-angle glaucoma. Interventions were diverse, mainly involving topical medications, with timolol being the most frequent. Eleven CCS test methods were identified. Five studies did not report the method used. The CSV-1000 was the most commonly used test, being applied in 11 studies. Conclusions: CCS has been measured using a wide range of methods in glaucoma RCTs, with limited standardization. Most of the included studies were small, variably reported, and conducted over 10 years ago, suggesting a decreasing interest in CCS as an outcome measure in glaucoma RCTs. Funding: This review was funded by Oslo University Hospital and the Research Council of Norway. Registration: This review was registered on the OSF. Full article

Wipe-out is defined as a sudden, unexplained, and irreversible loss of residual central vision following glaucoma surgery, typically in eyes with advanced visual field damage and severely compromised optic nerves. The purpose of this review is to critically assess the current incidence, risk factors, pathophysiological mechanisms, and clinical relevance of “wipe-out”, a rare but devastating complication of glaucoma surgery characterized by sudden, unexplained central vision loss postoperatively. A comprehensive literature review was conducted, analyzing key peer-reviewed studies from electronic databases (PubMed, Medline, and Google Scholar) published up to 2025. The data from the literature published prior to the year 2000 suggest that wipe-out incidences range broadly from <1% to 13%. Contemporary prospective studies and large-scale reviews indicate a significantly lower current incidence, frequently below 1%. Identified risk factors include severe preoperative visual field loss (especially split fixation), older age, immediate postoperative hypotony, and compromised optic nerve head perfusion. The proposed mechanisms involve acute vascular insults, ischemia–reperfusion injury, and accelerated apoptosis of already vulnerable retinal ganglion cells. Modern MIGS and refined trabeculectomy techniques exhibit notably lower wipe-out risks compared to historical data. The literature emphasizes preventive management, including careful patient selection, incremental intraocular pressure reduction, and minimally invasive anesthetic approaches. Although wipe-out syndrome represents a serious complication, its incidence in modern glaucoma surgery is minimal. The considerable benefits of contemporary surgical approaches—particularly MIGS—in preserving vision clearly outweigh this very low risk. Ophthalmologists should remain vigilant but confident in the safety and efficacy of modern glaucoma surgical techniques, emphasizing proactive intervention to prevent blindness rather than avoiding necessary surgery in consideration of the minimal risk of wipe-out. Full article

Dry age-related macular degeneration (AMD) is a leading cause of vision loss in individuals over 50, yet no approved therapies exist for early or intermediate stages of the disease. Oxidative stress is a central driver of retinal degeneration in AMD, and sodium iodate (NaIO₃)-induced injury serves as a well-characterized model of oxidative damage to the retinal pigment epithelium (RPE) and photoreceptors. BMI1, a poly-comb group protein involved in DNA repair, mitochondrial function, and cellular renewal, has emerged as a promising therapeutic target for retinal neuroprotection. We evaluated the efficacy of AAV-mediated BMI1 gene delivery in murine models using two administration routes: subretinal (SR) and suprachoroidal (SC). AAV5.BMI1 (1 × 10⁹ vg/eye) was delivered SR in Balb/c mice and evaluated at 4 and 15 weeks post-injection. AAV8.BMI1 (5 × 10⁹ or 1 × 10¹⁰ vg/eye) was administered SC in C57BL/6 mice and assessed at 4 weeks. Control groups received BSS or AAV8.stuffer. Following NaIO₃ exposure, retinal structure and function were analyzed by optical coherence tomography (OCT), electroretinography (ERG), histology, and molecular assays. SC delivery of AAV8.BMI1 achieved the highest levels of retinal BMI1 expression with no evidence of local or systemic toxicity. Treated eyes showed dose-dependent preservation of outer nuclear layer (ONL) thickness and significantly improved ERG responses indicating structural and functional protection. These findings support SC AAV.BMI1 gene therapy as a promising, minimally invasive, and translatable approach for early intervention in intermediate AMD. Full article

Background: Diabetic macular edema (DME) is the most common cause of vision loss among diabetic patients. The first-line treatments for DME are anti-vascular endothelial growth factor (VEGF)-drugs, while intravitreal steroids are generally reserved for second-line treatment. Limited data exist on the role of optical coherence tomography (OCT) biomarkers as predictors of success in non-responders to anti-VEGF treatment undergoing simultaneous cataract surgery and dexamethasone intravitreal implant (DEX-I). Methods: This study was designed as a retrospective analysis of patients with DME who were refractory to anti-VEGF treatment but underwent cataract surgery and received a DEX-I at the time of surgery. All procedures were performed between May 2021 and February 2024. The best-corrected visual acuity (BCVA) and central subfoveal thickness (CST) were recorded at baseline and at 1 week, 1 month, and 3 months. The following OCT-based biomarkers were also collected: ellipsoid zone (EZ) integrity, disorganization of the retinal inner layers (DRIL), CST, and hyperreflective foci (HRF). Correlations between the baseline biomarkers and the anatomical outcome were analyzed using linear mixed models (LMMs). Results: Eleven patients (eighteen eyes) met the inclusion criteria. The mean CST decreased significantly from 469.4 ± 53.8 µm at baseline, to 373.1 ± 34.7 µm at 1 week (p = 0.002) and 354.4 ± 24.1 µm at 1 month (p = 0.011). The mean BCVA improved significantly from 0.47 LogMAR to 0.33 LogMAR at 1 week (p = 0.001), 0.23 LogMAR at 1 month (p < 0.001), and 0.25 LogMAR at 3 months (p < 0.001). Baseline predictors significantly influencing CST included the presence of DRIL, a disrupted/absent EZ, and a higher CST. Conclusions: The administration of DEX-I for DME refractory to anti-VEGF treatment in patients undergoing cataract surgery promoted functional improvements persisting longer than the anatomical ones. Patients presenting with DRIL, disrupted EZ, and higher CST at baseline may be better candidates for the combination of DEX-I and cataract surgery. Full article

The increasing prevalence of age-related macular degeneration (AMD), a disease that can result in the loss of central vision, is an emerging problem worldwide due to aging societies. Growing patient numbers create a challenge for the healthcare system. Understanding the mechanisms of AMD pathogenesis will aid in early, personalized, and efficient intervention, helping to mitigate this issue. Current diagnostic methods rely on optical coherence tomography and angiography imaging, which identify existing damages, but do not provide information on the mechanisms behind them. In the present work, we demonstrate a difference in the serum RNA profile between neovascular AMD (nAMD) patients and controls. Moreover, the RNA profile of nAMD patients corresponded with anatomical changes in the retinal fluid compartments as well as atrophic changes of the retina. We followed two independent ways to control false positive leads, and when these approaches were combined, thioredoxin-related transmembrane protein 4 (TMX4) was observed to be differentially expressed by both approaches. This finding opens a new pathway in AMD studies, which are limited due to restricted access to live human target material and the limited value of animal models of human AMD. Full article

Objectives: Visual field (VF) testing is key to assessing functional loss in glaucoma. Despite its clinical value, traditional VF testing has a number of limitations, including its dependency on medical equipment and posturing requirements. The present study examines the acceptance, tolerability, and comfort of home-based VF testing using a virtual reality (VR) headset. Method: Healthy subjects were prospectively enrolled to undergo VF examination in a non-clinical setting using a commercially available stereoscopic VR headset and SORS (sequentially optimized reconstruction strategy) on the VisionOne platform. Subjects were supervised and wore their own spectacles within the headset. After the VR VF test, they were asked about their comfort, side effects, and readiness to repeat the examination at home. Results: Of the 12 subjects enrolled, 7 were female (58.3%) and 5 were male (41.7%). Mean age was 45 years (range: 30–68). While none of the subjects suffered from glaucoma, their medical histories included severe arthritis, refractive surgery, high myopia, amblyopia, and esotropia. The mean self-reported comfort score was 8.75 out of 10 (range: 8–10), with some subjects taking the test in the dorsal decubitus position. Eleven subjects (91.7%) considered the device to be easy to use, and 100% responded that they would be willing to repeat the test at home, of which 41.7% stated they would prefer to be supervised by a clinician. Overall, three subjects reported mild side effects, namely light asthenopia, epiphora, and periocular flushing. All side effects were mild and self-limited. The mean perceived duration of the test (187 s) correlated strongly with the mean actual duration (166 s; Pearson correlation coefficient r = 0.76, p-value = 0.007). In all, 58.3% of perceived durations were shorter than the actual test durations. Mean false negative and false positive responses were 3.75% and 4.7%, respectively. Central fixation recorded by real-time eye tracking was maintained on average 73.23% of the time and showed a strong correlation with false negative responses (r = 0.75; p = 0.026). Conclusions: While the present study did not examine the test algorithm itself, it suggests that home-based VF testing using a VR headset is well tolerated and accepted, with high levels of self-reported comfort and only mild side effects. While all subjects welcomed the opportunity to perform clinical tests from home, over a third expressed a preference for supervision. Real-time eye tracking correlated well with traditional reliability markers, suggesting potential clinical value. Full article

Background/Objectives: Submacular hemorrhage (SMH) associated with neovascular age-related macular degeneration (nAMD) can lead to significant vision loss, and the optimal management strategy remains uncertain. This study aimed to evaluate the efficacy and safety of pneumatic displacement (PD) without tissue plasminogen activator (t-PA) for SMH secondary to nAMD. Methods: A retrospective analysis was conducted on 22 eyes with SMH secondary to nAMD treated with PD without t-PA. Best-corrected visual acuity (BCVA), central retinal thickness (CRT), number of intravitreal injections, and postoperative complications were assessed at baseline and follow-up. Multiple logistic regression analyses were used to identify factors associated with visual outcomes. Results: In the 22 eyes that completed the 6-month follow-up, BCVA (logMAR) was 0.88 ± 0.46 at baseline and 0.76 ± 0.63 at 6 months (p = 0.24). In the 15 eyes with 12-month follow-up, BCVA improved significantly from 0.92 ± 0.47 at baseline to 0.56 ± 0.51 at 12 months (p = 0.01). CRT significantly decreased at 3 months (p < 0.01). During this period, patients received an average of 8.13 ± 2.90 intravitreal anti-vascular endothelial growth factor (VEGF) injections. A shorter duration from symptom onset to treatment was associated with better visual outcomes (p = 0.02). Postoperative vitreous hemorrhage occurred in 31.8% of cases. Conclusions: PD without t-PA, in combination with anti-VEGF therapy, improved visual outcomes over 12 months. Early intervention and continuous anti-VEGF administration appear to be key factors in optimizing treatment outcomes. Further studies are needed to establish standardized treatment protocols for SMH associated with nAMD. Full article

Stratigraphic correlation plays a crucial role in reservoir characterization. However, it is often time-consuming and heavily dependent on geological expertise. To address this issue, we propose a novel method called CMT-enhanced Hiformer, which integrates convolutional neural networks meet vision transformers (CMT) and hierarchical multi-scale representations using transformers (Hiformer). First, the architecture of CMT-enhanced Hiformer fuses the advantages of convolutional neural networks and transformers, effectively extracting complex features from well logs and capturing both local and global dependencies via a well-designed attention mechanism. Next, a geological constraint with regularization parameters is incorporated into the loss function. The new loss function promotes the accuracy of stratigraphic boundaries. The proposed method was validated using data from the Shuanghe oil field in central China. Specifically, the model achieved a maximum F1 score of 0.8857 and a precision of 0.8865 on the blind test dataset, demonstrating its robustness and high classification accuracy. Moreover, we conducted ablation studies and performed a detailed comparison with state-of-the-art deep learning models. The results demonstrate that the proposed method significantly improves the accuracy and efficiency of stratigraphic correlation. Full article