Search Results (536)

Mulibrey nanism is a rare autosomal recessive multisystem disorder caused by biallelic loss of function variants in TRIM37 encoding a peroxisomal E3 ubiquitin ligase. Initially described in Finland, where it remains most prevalent due to a founder mutation, the condition is now recognized worldwide and is characterized by severe prenatal-onset growth failure, distinctive craniofacial features, radiological abnormalities, ocular findings, and hepatopathy. Although its clinical spectrum extends far beyond these core manifestations, the major determinant of morbidity and mortality is progressive cardiovascular disease, including constrictive pericarditis and restrictive cardiomyopathy. Additional features include metabolic dysfunction such as insulin resistance and type 2 diabetes, gonadal insufficiency, skeletal abnormalities including fibrous dysplasia, and an increased risk of benign and malignant tumours. The clinical course evolves across the lifespan from early growth and developmental abnormalities to progressive multisystem disease in adolescence and adulthood. Recent advances have expanded understanding of TRIM37 function, linking it to mTORC1 TFEB signalling autophagy, centrosome integrity, extracellular matrix regulation, and immune cell function, providing mechanistic insights into tumour predisposition, skeletal pathology, and immune dysregulation. Management remains supportive and requires multidisciplinary care with emphasis on early recognition and treatment of cardiac disease, metabolic complications, and malignancy risk. Prognosis is variable but improves with early diagnosis and appropriate surveillance. This review summarises the clinical spectrum molecular mechanisms and current management of Mulibrey nanism and highlights priorities for future research. Full article

Background: Hematologic malignancies (HMs), including leukemia and lymphoma, are systemic diseases that may cause a wide range of ocular manifestations. Methods: We searched PubMed/MEDLINE (2015-2026) and identified articles with an emphasis on clinically relevant studies and recent developments. Results: Clinically, ocular involvement presents with diverse manifestations, including retinal hemorrhage, vitreoretinal lymphoma, choroidal infiltration, orbital masses, treatment-related ocular toxicities, graft-versus-host disease, and secondary infectious complications. These findings may mimic other ocular diseases and consequently lead to delayed diagnosis. In some cases, ocular manifestations may represent the initial presentation of hematologic malignancies or indicate disease recurrence. Diagnostic evaluation relies on comprehensive ophthalmic examination, imaging, and laboratory analysis. Management strategies include systemic treatment of the underlying malignancy, local ocular therapy, and targeted treatment of infectious or treatment-related complications. Conclusions: Ocular manifestations of hematologic malignancies have significant diagnostic and prognostic implications. Early recognition, multidisciplinary collaboration, and comprehensive ophthalmic assessment are essential for timely diagnosis and optimal management. Improved awareness of disease-related, treatment-related, and infection-related ocular manifestations may facilitate earlier intervention and contribute to better visual and systemic outcomes. Full article

The deployment of Motor Imagery Brain–Computer Interfaces (MI-BCI) is constrained by the inherent physiological variabilities of Electroencephalography (EEG) and parametric opacity. This paper presents a targeted technical audit of ten high-density MI-BCI computational pipelines, evaluating how existing literature addresses low Signal-to-Noise Ratio (SNR), intra-subject variability, and session-to-session instability. The investigation focuses on the contamination of data by ocular and muscular artifacts that overlap with the spectral components of Mu and Beta rhythms, often leading to algorithmic overfitting. Furthermore, the paper evaluates the impact of manifold drift where fluctuations in user state necessitate frequent recalibration as a primary hurdle for BCI portability. By applying a forensic evaluation framework to standardize the analysis across the ten selected studies, this paper identifies a high-performance landscape within standardized benchmarks, with classification accuracies reaching peak values of 95.42%. The audit specifically identifies a performance-reporting gap; while hybrid architectures demonstrate superior noise-rejection, they are frequently characterized by undocumented computational overhead. Additionally, while Neighborhood Component Analysis (NCA) emerges as a stable feature selection algorithm across the sampled literature, the systemic absence of reported execution times prevents a verified assessment of its low-latency viability. A critical technical finding is the widespread issue of Parametric Opacity, particularly regarding the omission of essential deterministic variables such as filter orders, windowing constants, and the final dimensionality of feature vectors. The audit reveals that the frequent failure to report the exact number of features utilized for classification masks potential overfitting and prevents an accurate assessment of the system’s generalization capabilities. Furthermore, only a specialized subset of the reviewed literature validates performance through formal statistical testing, such as Friedman ANOVA or Wilcoxon Signed-Rank tests, with most studies relying on peak accuracy metrics that may disguise filtered artifact residuals. This lack of granular documentation disguises the computational complexity of proposed methods and complicates their feasibility for hardware-in-the-loop validation. The findings establish that standardizing the reporting of preprocessing variables and feature-space dimensions is a prerequisite for overcoming current performance plateaus in universal BCI architectures. Full article

Dry eye disease, a multifactorial and symptomatic disease characterized by tear film instability and ocular surface dysfunction, has emerged as an increasingly pressing global health concern—particularly against the backdrop of increasing digital device usage and the widespread application of virtual learning. Traditional pharmacotherapies, such as artificial tears, yield only transient symptomatic relief. Compared with pharmacological agents, surgical treatments are further restricted in clinical application, primarily because of their invasiveness, technical complexity, postoperative complications, and high costs. Consequently, the development of novel therapeutic strategies has emerged as imperative. This review summarizes advances in pharmacotherapy, including nanomedicine and biological agents, as well as emerging physiotherapies, such as photobiomodulation, thermal pulsation, and neurostimulation. These innovative therapeutic approaches address the partial limitations of conventional treatments through three main molecular mechanisms: improved drug delivery, multitargeted pharmacology, and enhanced biocompatibility. Nevertheless, the clinical translation of many innovative therapies requires large-scale clinical trials to validate clinical efficacy, optimize dosage regimens, and assess long-term safety profiles. In the future, integrating lifestyle modifications, effective clinician–patient communication, and patient-centric diagnostic approaches will facilitate the establishment of therapeutic alliances and support the success of precision medicine. Full article

Zika virus (ZIKV) remains a significant global public health threat due to its association with severe neurological and ocular abnormalities, including microcephaly and congenital glaucoma in infants. Viruses often exploit host metabolic programs, such as energy and lipid metabolism, to support their replication. However, how ZIKV-driven metabolic reprogramming affects the anterior segment of the eye, especially trabecular meshwork (TM) cells, remains poorly defined. In this study, we investigated the roles of AMP-activated protein kinase (AMPK) signaling, fatty acid (FA) metabolism, and lipid droplet (LD) biogenesis in ZIKV-induced ocular pathogenesis using primary human TM cells and an IFNAR1-deficient mouse model. ZIKV infection triggered time-dependent activation of the LKB1-AMPK-ACC signaling axis and significantly increased LD accumulation. Pharmacological activation of AMPK suppressed viral replication, whereas its inhibition enhanced infection, highlighting an antiviral role for AMPK signaling. In contrast, ZIKV promoted LD biogenesis, and inhibition of DGAT1 reduced both LD formation and viral replication, indicating a proviral role for LDs. Modulation of FA metabolism further revealed differential effects on ZIKV infection: saturated FA (palmitate) enhanced viral replication, whereas inhibition of FA oxidation with etomoxir reduced infection. Conversely, unsaturated FAs (oleate and linoleate) suppressed viral replication, in part by impairing viral binding and entry. Collectively, these findings show that ZIKV reshapes host metabolic pathways in TM by differentially engaging AMPK signaling, FA metabolism, and LD biogenesis to promote viral replication and spread in ocular tissue. Targeting these metabolic pathways may offer promising therapeutic avenues for preventing and/or treating ZIKV-associated ocular complications. Full article

Cataracts represent the leading cause of blindness worldwide, particularly in older adults, and constitute a significant public health challenge. Although cataract surgery is generally associated with a high safety profile, both patients and healthcare providers often face significant challenges due to age-related physiological changes and the high prevalence of comorbidities, which are directly linked to cataractogenesis and other systemic diseases that can complicate both the surgical procedure and postoperative recovery. This narrative review aimed to assess the epidemiological characteristics of age-related physiological and pathological comorbidities in older adults with cataracts, evaluating their impact on preoperative assessment, surgical outcomes, and public health planning. Articles were identified through non-systematic searches of PubMed, EMBASE, and Scopus using a combination of medical subject headings (MeSH) terms and free-text keywords. Among the multiple non-ocular comorbidities, carotid artery disease (CAD) and hypertension (HTN) are among the cardiovascular diseases (CVDs) with the highest correlations with cataract. Diabetes, dyslipidemia, and metabolic syndrome are also highly prevalent and significantly influence surgical outcomes, as poor glycemic control increases intraoperative risks and postoperative complications. Additionally, neurological conditions such as stroke, Parkinson’s disease, and epilepsy often complicate anesthesia administration, contribute to postoperative delirium, and affect adherence to treatment protocols. Given these complexities, a multidisciplinary approach and targeted preoperative screening may offer personalized care to improve safety and outcomes. Despite advances in clinical care, disparities in access to cataract surgery, especially in underserved populations, continue to exist. Thus, a coordinated public health strategy that promotes early detection, equitable access, and the integration of innovations such as teleophthalmology and artificial intelligence is essential to optimize care for older adults with cataracts worldwide. Full article

Background and Objectives: Myopic choroidal neovascularization (mCNV) is a vision-threatening complication of pathologic myopia. While anti-VEGF monotherapy is the current standard of care, recurrence and suboptimal responses remain challenges. Faricimab is a novel bispecific antibody that targets both vascular endothelial growth factor (VEGF) and angiopoietin-2 (Ang-2) to improve vascular stability. This study aims to evaluate the short-term efficacy and safety of a single intravitreal faricimab injection in eyes with active mCNV. Materials and Methods: This retrospective, single-center study included 27 eyes from 24 patients with active mCNV, including both treatment-naïve and previously treated cases. All eyes received a single intravitreal injection of faricimab (6.0 mg/0.05 mL). Best-corrected visual acuity (BCVA) in logMAR and central retinal thickness (CRT) via spectral-domain optical coherence tomography were assessed at baseline and one month post injection. Statistical significance was determined using paired and independent t-tests (p < 0.05). Results: The study population (mean age 55.5 ± 13.9 years; mean axial length 29.3 ± 1.6 mm) showed significant improvements at one month. Mean BCVA improved from 0.77 ± 0.71 logMAR to 0.51 ± 0.52 logMAR (p < 0.005). Mean CRT decreased from 290.2 ± 66.0 μm to 242.5 ± 45.7 μm (p < 0.005). No ocular adverse events, such as intraocular inflammation, retinal detachment, or endophthalmitis, were observed. Conclusions: A single intravitreal injection of faricimab provides significant short-term functional and anatomical improvement in this small retrospective series. Dual inhibition of VEGF-A and Ang-2 appears to be a safe and effective approach for stabilizing retinal vasculature in patients with high myopia. Larger, long-term prospective studies are needed to determine optimal treatment intervals for mCNV. Full article

Eyelid anomalies represent a relevant cause of corneal injury, including epithelial instability and recurrent erosions up to progressive stromal thinning, corneal melt, and, in severe cases, perforation leading to permanent visual impairment. Correction of eyelid dysfunction is the first step in managing these lesions. However, corneal damage may persist or progress despite adequate eyelid treatment. Therefore, a corneal surgical approach is necessary to preserve ocular surface integrity and visual function. This review synthesizes literature published between 2008 and 2025 on corneal complications secondary to eyelid anomalies and postoperative eyelid procedures. We analyzed the mechanisms of eyelid-induced corneal injury, indications for surgical treatment, and corneal surgical strategies, from surface-stabilizing techniques to tectonic interventions. Entropion and ectropion are the most common eyelid abnormalities associated with mechanical trauma and exposure-related corneal disease. Although definitive eyelid correction is necessary for corneal recovery, persistent epithelial defects, stromal thinning, corneal melt, and perforation frequently require corneal surgical management. Surface-stabilizing procedures, such as amniotic membrane transplantation, are effective in early disease stages, whereas progressive stromal defects necessitate tectonic approaches such as lamellar patch grafting or therapeutic keratoplasty. Interventions aimed at visual rehabilitation should be postponed until sustained ocular surface stability has been achieved. Effective management of eyelid-related corneal damage requires both eyelid surgical correction and corneal management. Close collaboration between corneal and oculoplastic surgeons helps achieving good anatomical outcomes and long-term ocular surface stability. Full article

Rheumatoid arthritis (RA) is a systemic autoimmune disease that can involve the ocular surface and deeper ocular tissues, leading to a spectrum of ophthalmic manifestations ranging from dry eye disease to vision-threatening inflammation, such as scleritis and peripheral ulcerative keratitis (PUK). This paper presents the results of a narrative review conducted using PubMed and Google Scholar from database inception to March 2026. Eligible publications describing clinical features and management of RA-associated ocular disease were synthesized, and no unpublished data were included. According to the literature, dry eye disease (DED) is the most frequent ocular manifestation of RA, and it is primarily managed with lubrication and topical anti-inflammatory therapies, including cyclosporine and lifitegrast. Additional options for refractory disease include neurostimulation and evaporation-targeted therapy. Scleritis and PUK are less common but represent severe inflammatory complications that generally require systemic immunosuppression. Conventional management includes systemic corticosteroids and steroid-sparing agents such as methotrexate (MTX), azathioprine (AZA), cyclophosphamide (CYC), and mycophenolate mofetil (MMF) in aggressive cases. Escalation to biologic disease-modifying antirheumatic drugs (bDMARDs), specifically tumor necrosis factor-alpha (TNF-α) inhibitors and rituximab (RTX), is supported for refractory scleritis and corneal melt, although evidence is largely observational. Among anti-TNF agents, monoclonal antibodies, such as infliximab and adalimumab, appear more effective than etanercept for ocular inflammation. Rituximab is preferred for vasculitis-associated or refractory disease, and Janus Kinase (JAK) inhibitors represent an emerging option requiring careful safety monitoring. Evidence for DED therapies includes randomized controlled trials (RCTs), whereas data for RA-associated scleritis and PUK are largely derived from registries, case series, and case reports. Prospective studies with standardized ocular outcomes are needed to refine treatment algorithms and compare the effectiveness of biologic versus targeted synthetic agents. Full article

Syphilitic panuveitis is a severe and diagnostically highly challenging manifestation of ocular syphilis. Its predominant posterior-segment involvement and its tendency to mimic noninfectious or viral uveitis may delay etiologic recognition and increase the risk of permanent vision loss. Rhegmatogenous retinal detachment (RRD) is a rare but vision-threatening complication that likely reflects advanced, inflammation-induced disruption of the vitreoretinal interface. A narrative literature review was conducted using the PubMed, Scopus, and Web of Science databases (January 2000 to 10 September 2025). Studies addressing the clinical presentation, imaging findings, pathophysiology, and management of syphilitic panuveitis and associated rhegmatogenous retinal detachment were analyzed. Infectious mimickers were also presented, with particular emphasis on West Nile virus (WNV). Evidence was synthesized qualitatively. Posterior uveitis and panuveitis are one of the most common ocular manifestations of syphilis. Posterior segment involvement in ocular syphilis is frequently bilateral, typically presenting with dense vitritis, retinal vasculitis, and optic neuropathy. RRD is a rare presenting complication, most often developing in areas of prior inflammatory retinitis and arising due to retinal necrosis, persistent vitreoretinal traction, and early proliferative vitreoretinopathy, which increases surgical complexity and may limit functional recovery. HIV coinfection often modifies disease severity. In relevant endemic or seasonal settings, WNV-associated ocular inflammation represents an important diagnostic pitfall. Syphilitic panuveitis should be considered early in patients presenting with unexplained posterior uveitis or panuveitis. Routine testing for syphilis and HIV in the uveitic laboratory palette, together with targeted evaluation for infectious mimickers, is essential to reduce diagnostic delay and avoid inappropriate immunosuppression. RRD should be recognized as a marker of advanced, inflammation-induced vitreoretinal interface damage requiring timely antimicrobial therapy and early involvement of vitreoretinal surgery. Full article

Vascular endothelial growth factor (VEGF) is a key regulator of angiogenesis and an established therapeutic target in diseases such as cancer and ocular disorders. However, long-term use of most current anti-VEGF agents is often limited by their associated side effects, including hypertension, bleeding, and gastrointestinal complications. These limitations have stimulated interest in naturally occurring VEGF inhibitors derived from dietary sources, which may offer safer alternatives due to their favorable safety profiles. In this study, we investigated shared structural features of potent VEGFR2 inhibitors, focusing on naturally derived polyphenols. Polyphenols representing multiple structural subclasses were evaluated for their ability to inhibit VEGFR2 kinase activity using an in vitro kinase assay, to suppress VEGF-induced phosphorylation of VEGFR2 and downstream MAPK signaling in endothelial cells by Western blot, and to reduce VEGF-stimulated endothelial cell proliferation. Across all assays, flavonoids with strong VEGFR2 inhibitory activity displayed consistent structural characteristics, including the number and specific positioning of hydroxyl groups on the A- and B-rings, as well as specific structural elements of the C-ring. Our findings provide a strong foundation for further structure–activity relationship (SAR) studies and facilitate identification of key molecular determinants required for VEGFR2 inhibition. Elucidation of these structural patterns may contribute to the development of more effective and safer angiogenesis inhibitors with reduced adverse effects. Full article

Lamellar ichthyosis is a rare congenital disorder of keratinization frequently associated with ocular complications, most commonly cicatricial ectropion and exposure keratopathy. We present a case of severe mixed exposure-related and neurotrophic keratopathy with marked corneal thinning in a 61-year-old man with genetically confirmed lamellar ichthyosis. At presentation, the best-corrected visual acuity (BCVA) in the right eye was limited to hand motion (logMAR 2.3). Slit-lamp examination revealed a large central to inferocentral corneal ulcer measuring approximately 3 × 4 mm with severe stromal thinning in the setting of marked lower eyelid ectropion, incomplete eyelid closure, and chronic ocular surface exposure, while anterior segment optical coherence tomography (AS-OCT) demonstrated a minimal corneal thickness of approximately 165 µm. Microbiological swabs obtained from the conjunctival sac were negative, and no purulent discharge, hypopyon, or anterior chamber inflammatory reaction was present, making active infectious keratitis unlikely. Corneal sensitivity measured with Cochet–Bonnet esthesiometry at presentation, centrally and in all four peripheral quadrants of both eyes, was markedly reduced, more severely in the affected right eye, supporting the presence of a severe neurotrophic component contributing to impaired corneal healing. Intensive conservative therapy including preservative-free lubricants, dexpanthenol gel, autologous serum eye drops, topical insulin, prophylactic antibiotics, and systemic doxycycline was initiated. Serial AS-OCT imaging demonstrated progressive structural recovery, with corneal thickness increasing to 438 µm after one month of treatment and complete corneal epithelialization. The BCVA improved to 0.2 Snellen (0.7 logMAR). This case highlights the diagnostic value of multimodal anterior segment imaging in monitoring severe mixed keratopathy with advanced corneal thinning and demonstrates that intensive conservative therapy may stabilize the ocular surface and prevent corneal perforation in patients with lamellar ichthyosis. Full article

Background: Graft-versus-host disease is the most common complication after allogeneic hematopoietic stem cell transplantation. While ocular graft-versus-host disease typically manifests as dry eye syndrome and anterior segment involvement, posterior segment complications are rare. Previously reported posterior segment complications in graft-versus-host disease have been limited to acute presentations with significant functional visual impairment. Methods: A 41-year-old man developed progressive retinal nerve fiber layer and ganglion cell layer loss four years after allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia. The patient had established chronic graft-versus-host disease with cutaneous involvement and ocular surface disease. Results: Despite preserved visual acuity and visual fields, and only subtle functional involvement on visual evoked potentials, optical coherence tomography revealed significant reduction in retinal nerve fiber layer thickness and ganglion cell layer. Magnetic resonance imaging showed no optic nerve or brain abnormalities. Conclusions: This case describes an uncommon presentation of chronic, subclinical posterior segment involvement in chronic GVHD and suggests that optical coherence tomography may detect progressive structural retinal changes in the absence of clinically evident visual impairment, supporting its potential role in longitudinal monitoring. Full article

Ocular tilt reaction (OTR) and trochlear nerve palsy (TNP) can induce cyclotorsion. We aimed to assess the utility of fundus photography in distinguishing between these disorders. The database of a neuro-ophthalmology hospital-based clinic was retrospectively searched for patients referred for new-onset vertical diplopia between 2020 and 2023. Medical data were collected, and the angle between the optic disc and fovea was measured using ImageJ software to quantify torsion. Distinct torsional patterns were identified between the groups. OTR was characterized by variable, often conjugate torsion, whereas TNP demonstrated consistent disconjugate extorsion. Analysis of interocular torsional relationships, rather than magnitude alone, provided useful diagnostic discrimination. Fundus photography may be useful for differentiating OTR from TNP in complicated neurological cases, particularly in patients who are difficult to examine. This study emphasizes the practical clinical value of fundus photography as a simple, accessible, and objective tool for differentiating OTR from TNP, by contributing the torsional component of OTR triad, particularly in emergency or diagnostically challenging settings where standard examination may be limited. Full article

Elevated temperatures are frequently encountered in numerous occupational settings such as iron and steel foundries, non-ferrous metal foundries, brick and ceramic manufacturing plants, glass production facilities, rubber factories, electrical power plants, bakeries, laundries, chemical processing sites, mining operations, smelting plants, and steam tunnels. Employees working in these environments are at risk of developing various health issues and injuries, including ocular complications, due to prolonged exposure to heat and the physical demands of handling heavy materials. This study focuses on examining the pressure within the eye’s anterior chamber, referred to as Intraocular Pressure (IOP), and its association with the cornea’s biomechanical characteristics, with particular attention to corneal temperature. Our methodology is grounded in the principles of the first law of thermodynamics. The findings reveal a link between the temperature of the eye’s anterior chamber and the biomechanical behaviour of the cornea. Specifically, IOP serves as an indicator of the cornea’s elasticity and its optical properties as influenced by temperature variations. We investigated how the cornea’s elastic energy, or the work it performs, varies with temperature changes. The results show that an increase in temperature corresponds to a reduction in the work exerted by the cornea. The corneal temperature is affected by both the ambient environment and the temperature of the aqueous humour within the anterior chamber. This indicates a relationship between the mechanical work done by the cornea and the pressure exerted by the fluid in the eye’s front segment. Furthermore, our study identified a correlation between corneal thickness and IOP, which our modelling approach successfully quantifies. Utilizing the first law of thermodynamics, we calculated the work performed by the anterior chamber against the cornea’s internal surface. Temperature fluctuations influence the secretion, drainage, and flow characteristics of the aqueous humour, thereby impacting IOP and associated ocular conditions. These insights are valuable for devising strategies aimed at preventing eye injuries among workers exposed to high-temperature environments. Full article