Search Results (172)

Objectives: The acromiohumeral distance (AHD) is widely used to evaluate subacromial pathology, particularly rotator cuff–related disorders. However, substantial heterogeneity exists across studies in imaging protocols, measurement definitions, and diagnostic thresholds. This systematic review aimed to synthesize current evidence on AHD measurement methods, assess reliability and diagnostic performance across imaging modalities, and examine the clinical relevance of AHD as both a structural and functional biomarker. Methods: A systematic search of PubMed, Web of Science, and SciELO (January 2006–May 2025) was conducted following PRISMA 2020. Eligible studies reported quantitative AHD measurements using ultrasound, MRI, or radiography in adults. Two reviewers independently conducted screening, extraction, and QUADAS-2 assessments. Due to heterogeneity, results were narratively synthesized. Results: Twenty-nine studies met the inclusion criteria. Definitions of AHD and imaging procedures varied substantially. Ultrasound showed the most consistent intra- and inter-observer reliability, whereas MRI and radiography demonstrated greater protocol-dependent variability. Reduced AHD values were frequently associated with full-thickness rotator cuff tears, while larger values typically characterized asymptomatic individuals. Several studies also reported reductions in AHD during arm elevation, supporting its interpretation as a functional parameter influenced by scapular motion and neuromuscular control. Conclusions: AHD is a reliable and clinically informative measure when acquired using standardized protocols, with Ultrasound demonstrating the highest reproducibility. Its sensitivity to positional and dynamic factors supports its role as both a structural and functional biomarker. Further research should prioritize standardized imaging procedures, dynamic assessment methods, and evaluation of emerging technologies to improve the diagnostic and prognostic value of AHD. Full article

Rare genetic ocular diseases represent a heterogeneous group of disorders that significantly impair visual function and quality of life. Despite their clinical relevance, many of these conditions remain insufficiently characterized due to complex molecular mechanisms and diagnostic limitations. Recent advances in molecular diagnostics, particularly Next-Generation Sequencing (NGS), have enabled comprehensive and accurate identification of pathogenic variants, offering novel insights into genotype–phenotype correlations and supporting precision medicine approaches. In parallel, the use of alternative biological matrices such as tear fluid has emerged as a promising non-invasive strategy for biomarker discovery and disease monitoring. Tear-based omics, including proteomics and transcriptomics, have identified diagnostic signatures and pathogenic mediators such as non-coding RNAs, microRNAs, and tRNA-derived fragments (tRFs). Among these, tRF-1001 has shown potential both as a biomarker and therapeutic target in ocular neovascular conditions through its modulation of angiogenic pathways. The objective of this review is to show the integration of two rapidly advancing yet frequently isolated fields: next-generation sequencing-based genomics and tear-fluid molecular profiling, positioning them as complementary foundations of precision ophthalmology for rare inherited retinal and optic nerve disorders. Previous reviews have mainly concentrated on either genetic diagnosis or ocular surface biomarkers separately; however, we have introduced a convergent model wherein genomic data furnish diagnostic and prognostic clarity, while tear-omics deliver dynamic, minimally invasive assessments of disease activity, treatment efficacy, and persistent neurovascular stress. By explicitly connecting these two aspects, we have delineated how multi-matrix, multi-omics approaches can expedite early diagnosis, facilitate personalized longitudinal monitoring, and direct focused treatment interventions in rare ocular genetic illnesses. Full article

Background: Celiac disease (CD) is a systemic autoimmune disorder triggered by gluten exposure in genetically predisposed individuals. Beyond gastrointestinal symptoms, CD is increasingly recognized to affect extraintestinal organs, including the eye. Methods: A PubMed, Cochrane, Web of Science, and Scopus databases search up to April 2025 was conducted to identify studies on ocular involvement in CD. Results: Large population-based cohorts have demonstrated an increased risk of cataract and uveitis in individuals with CD. Cross-sectional and case–control studies further report reduced tear break-up time and decreased Schirmer test values, indicating tear film instability and associated ocular surface abnormalities. Additional findings include reduced anterior chamber depth and volume, alterations in subfoveal and peripapillary choroidal thickness, thinning of the retinal nerve fiber layer, and microvascular changes such as reduced superficial and deep capillary plexus densities. Furthermore, deficiencies of vitamins A, D, B12, and iron have been consistently associated with structural and functional ocular alterations, underscoring the contribution of impaired nutrient absorption. Conclusions: Ocular involvement in CD likely reflects the interplay of immune dysregulation, nutritional deficiencies, and microvascular alterations. Ophthalmic referrals should be considered in CD patients presenting with ocular symptoms. Early recognition and regular monitoring may facilitate timely diagnosis, improve visual outcomes, and support normal ocular development. Full article

Background and Objectives: Ankylosing spondylitis (AS) is a chronic inflammatory disorder frequently associated with acute anterior uveitis; however, it may also predispose individuals to dry eye disease. We aimed to evaluate dry eye in AS participants employing both conventional tests and conjunctival impression cytology (Nelson grading) to compare their sensitivity in detecting ocular surface changes. Materials and Methods: This prospective case–control study enrolled 24 patients with AS and 27 age- and sex-matched healthy controls. Dry eye was evaluated using the Schirmer I test (measuring tear production), fluorescein tear break-up time (BUT, assessing tear film stability), the Ocular Surface Disease Index (OSDI) questionnaire (evaluating symptoms), and conjunctival impression cytology (analyzing ocular surface changes). Intergroup differences were assessed using non-parametric statistical methods, and their correlations with clinical variables were examined. Results: Nelson conjunctival cytology scores were significantly higher in AS patients than control subjects (1.63 ± 0.92 vs. 0.74 ± 0.86; p = 0.001), indicating greater conjunctival goblet cell loss and squamous metaplasia. In contrast, Schirmer, BUT, and OSDI observations did not differ significantly between AS and control subjects (all p > 0.05). Within AS, the Nelson cytology grade did not correlate accompanied by tear test observations or disease activity indices, and symptom scores did not align accompanied by Schirmer or BUT values. Conclusions: AS patients demonstrated evidence of subclinical dry eye changes detectable by impression cytology even when standard tests were normal. Conjunctival cytology was more sensitive than Schirmer, BUT, or symptom assessment in identifying ocular surface involvement in AS. Integrating such ocular surface evaluation into AS management could allow earlier diagnosis of dry eye and prompt intervention to improve patient quality of life. Full article

Eyelid retraction, cicatricial entropion, and deformities associated with facial nerve palsy are among the eyelid malpositions most detrimental to the ocular surface, as they cause exposure, tear film instability, inflammation, and potentially significant visual impairment. These conditions present major functional and esthetic challenges, underscoring the need for a clear understanding of their mechanisms and management. A narrative review was conducted using PubMed, MEDLINE, Embase, and Google Scholar to identify English and non-English studies (with English abstracts) addressing eyelid malpositions related to thyroid eye disease, cicatricial processes, and facial nerve palsy. Screening and cross-referencing yielded 115 relevant publications. Studies were excluded if they lacked clinical relevance, did not address the target disorders, involved animals, consisted of insufficient case reports, lacked an English abstract, or were non–peer-reviewed or duplicated. Extracted information included patient demographics, clinical presentations, diagnostic methods, treatments, complications, and outcomes. In thyroid eye disease, eyelid retraction results from adrenergic overstimulation, increased Müller muscle tone, and fibrosis involving the levator–superior rectus complex. Temporary improvement may be achieved with botulinum toxin, corticosteroids, or soft-tissue fillers, whereas sustained correction requires individualized surgical approaches. Cicatricial entropion arises from posterior lamellar contraction caused by inflammatory or iatrogenic injury and is best treated with lamellar repositioning or grafting procedures. In facial nerve palsy, incomplete blinking, punctal malposition, and lacrimal pump dysfunction contribute to tearing and ocular surface instability; management prioritizes corneal protection, eyelid rebalancing, and adjunctive measures such as botulinum toxin or physiotherapy. Across all conditions, tailored, multidisciplinary care is essential to maintain ocular surface integrity, restore eyelid function, and preserve quality of life. Full article

Susac Syndrome (SuS) is a rare autoimmune neurovascular disorder characterized by sudden visual loss, hearing disturbances, and encephalopathy. Pathology affects the small vessels of the brain, retina, and inner ear. Diagnosing SuS is challenging due to its rarity, complexity, and nonspecific symptoms. This single-case study presents a proteomic analysis of tear fluid from a patient with SuS, revealing upregulated proteins involved in immune dysregulation, cytoskeletal remodeling, and cellular repair. The activation of inflammatory proteins (e.g., S100), cytoskeletal and motility-related proteins (e.g., ezrin, radixin), and membrane transport proteins (e.g., aquaporin-5, chloride intracellular channel protein), together with activation of MAPK and NF-κB signaling pathways, highlights immune dysregulation and neurovascular damage in SuS. Hyperactivation of MAPK and NF-κB pathways leads to chronic neuroinflammation and decreased expression of neutrophil defensin 1, indicating a shift from a protective to a chronic inflammatory response. These findings from the personalized proteomic pattern of SuS support the potential of tear fluid proteomics for diagnosing SuS and offer valuable insights into its underlying molecular mechanisms. Full article

Background: Platelets have conventionally been viewed as cellular fragments crucial for hemostasis; nonetheless, their extensive secretome of cytokines and growth factors has been increasingly acknowledged as a significant regulator of inflammation and tissue healing at the ocular surface. Aims: The objective of this narrative review is to synthesize existing knowledge of platelet biology with new findings about the therapeutic use of platelet-derived products in dry eye disease (DED). Methods: A qualitative review of the PubMed, Scopus, and Web of Science databases up to June 2025 identified preclinical, translational, and clinical studies assessing platelet-rich plasma (PRP), plasma rich in growth factors (PRGF), platelet lysate, and autologous serum tears for dry eye disease (DED) and associated ocular surface disorders. Results: Platelet-derived formulations have exhibited reliable immunomodulatory and regenerative effects by diminishing inflammatory signaling, lowering cytokine expression, and facilitating epithelial and neurotrophic restoration. Clinical investigations have indicated enhancements in tear film stability, corneal staining, and patient-reported symptoms, especially in cases of moderate-to-severe or refractory illness. Nonetheless, methodological diversity, inconsistent preparation techniques, and restricted sample sizes have impeded comparability among experiments. Conclusions: Platelet-derived treatments constitute a biologically viable and clinically promising strategy for the management of dry eye disease (DED). Future research must emphasize the standardization of preparation protocols, the identification of predictive biomarkers such as transforming growth factor-β1 (TGF-β1), nerve growth factor (NGF), and matrix metalloproteinase-9 (MMP-9), as well as the design of multicenter randomized controlled trials to guarantee reproducible, GMP-compliant clinical applications. Full article

Background and Objectives: Triple A syndrome (TAS) is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, alacrimia (absence of tear production), and achalasia. This article aims to provide a better understanding of gonadal function and reproductive health in TAS by summarizing existing data from the literature regarding this topic. Materials and Methods: A comprehensive literature review was carried out until September 2025, using four electronic databases (PubMed, Embase, Web of Science and Scopus). Results: The review included a total of 25 articles. The most frequent findings in the articles included in the review were erectile dysfunction, ejaculatory dysfunction, delayed puberty, hypogonadism and fertility issues. Furthermore, several studies revealed reduced adrenal androgen levels in male patients, while other case reports documented the presence of osteoporosis in individuals with TAS. Conclusions: Gonadal dysfunction and reproductive health challenges in TAS remain underexplored aspects. The multisystemic nature of TAS requires a comprehensive approach to patient care for optimizing quality of life, and this review underscores the importance of evaluating reproductive function in individuals with this rare syndrome. Full article

Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic cause of acute coronary syndrome, characterized by the development of a false lumen within the coronary arterial wall, leading to narrowing or complete occlusion of the true lumen. This underrecognized condition accounts for a substantial proportion of sudden cardiac death (SCD), particularly among young, otherwise healthy women. Macroscopically, SCAD is defined by intramural hematoma and focal thickening of the arterial wall, while histological examination demonstrates separation of the tunica media, elastic fiber degeneration, and variable inflammatory infiltrates. Proposed pathogenic mechanisms include primary intimal tear and primary intramural hematoma, frequently associated with predisposing conditions such as fibromuscular dysplasia, connective tissue disorders, and specific hormonal states. In cases of myocardial infarction, the myocardium exhibits acute ischemic necrosis and early hypoperfusion injury. Postmortem diagnosis requires meticulous coronary dissection, adjunctive histochemical and immunohistochemical staining, and, when indicated, molecular autopsy (MA). The purpose of this review is to provide an updated synthesis of current knowledge on SCAD as a cause of SCD, integrating pathogenetic, morphological, and genetic perspectives, and to emphasize the role of MA as both a diagnostic and preventive tool. Full article

Duropathies encompass a spectrum of disorders linked to spinal dural tears and cerebrospinal fluid (CSF) leaks, resulting in significant neurological manifestations. This review synthesizes the current literature on duropathies, focusing on their anatomical and pathophysiological aspects, including conditions such as superficial siderosis, spontaneous intracranial hypotension, and spinal cord herniation. The methodologies employed include comprehensive evaluations through neuroimaging techniques such as MRI and CT myelography, alongside clinical assessments of symptoms like ataxia, hearing loss, and cognitive impairment. Key findings highlight the prevalence of dural defects in patients with superficial siderosis and the association of persistent CSF leaks with various neurological impairments. The review emphasizes the need for a standardized diagnostic and therapeutic approach to enhance patient management and improve outcomes. By addressing the interrelated nature of these conditions, the study underscores the importance of early intervention to mitigate long-term neurological consequences. Overall, the findings advocate for further research to elucidate the mechanisms underlying duropathies and the development of effective treatment strategies, ultimately aiming to improve the quality of life for affected individuals. Full article

Background: Dry eye disease is a multifactorial ocular surface disorder characterized by tear film instability, inflammation, and neurosensory abnormalities that can lead to corneal pain and discomfort. In this study, we evaluated the effects of specific eye drops for dry eyes on neuronal pain receptors to gain insight into the mechanisms underlying corneal nerve pain in patients with dry eyes using a primary cell culture model of murine trigeminal ganglion cells. Methods: Trigeminal ganglia were obtained from wild-type postnatal day 7–10 mice. Primary cultures were prepared using the cell suspension method. After culturing for one week, the cells were stained with neuron-specific anti-neuronal nuclei, polymodal nociceptor, and transient receptor potential vanilloid 1 (TRPV1) antibodies. The calcium ion probe Fura2-AM^® was added to cultured cells after 2 weeks of incubation. The effects of capsaicin alone, in combination with the TRPV1 antagonist AMG9810, and in the presence of components of commercially available eye drops (cyclosporine, diquafosol tetrasodium, or rebamipide) were evaluated by monitoring calcium signals. Results: Neural excitation and capsaicin-induced increase in fluorescence intensity ratio were suppressed by AMG9810, cyclosporine, and diquafosol tetrasodium, but not by rebamipide. Conclusions: Inhibition of cellular excitation by cyclosporine and diquafosol tetrasodium may underlie their clinical pain suppressive effects. The primary culture model described here may serve as a useful tool for future studies on corneal perception. Full article

Background and Objectives: Lateral osteotomies in rhinoplasty run adjacent to the lacrimal drainage system (LDS), risking postoperative tearing. Piezoelectric (piezo) devices enable precise bone cuts that may reduce LDS trauma. We compared the 1-month incidence of objective lacrimal dysfunction after piezo versus classic osteotomy. Materials and Methods: Retrospective, single-center controlled cohort (1 January 2024–1 January 2025) at a tertiary ENT clinic. Consecutive patients aged 19–45 with pre-operative paranasal sinus CT and no prior lacrimal disorder were grouped by osteotomy technique (piezo vs. classic; n = 65 per arm). Assessments were performed at postoperative day 7–10 and at 1, 3, and 6–12 months. The primary endpoint was 1-month objective lacrimal dysfunction, defined as fluorescein dye disappearance test (FDDT) grade ≥1 or reflux/resistance on irrigation plus symptoms (Munk ≥2). Pre-specified statistical tests were used. Results: Early tearing favored piezo. At week 1, epiphora occurred in 32.3% with piezo versus 46.1% with classic (p = 0.041); by month 6, rates were 4.6% versus 15.1% (p = 0.031). Differences at months 1 and 3 also favored piezo but were not statistically significant (p = 0.062 and p = 0.088). FDDT positivity was lower with piezo at week 1 (23.0% vs. 38.4%, p = 0.045) and month 6 (3.0% vs. 10.7%, p = 0.048). Irrigation obstruction was less frequent with piezo at week 1 (7.6% vs. 21.5%, p = 0.026), but groups converged by months 1 (15.4% vs. 12.3%, p = 0.80) and 3 (6.2% vs. 4.6%, p > 0.99). Punctum stenosis/occlusion remained uncommon in both groups without significant differences. Conclusions: Piezo-assisted lateral osteotomy is associated with less early lacrimal dysfunction and lower 6-month epiphora compared with the classic technique. Convergence of irrigation findings by 1–3 months suggests postoperative edema as the dominant transient mechanism. Given the retrospective, single-center design and low event rates, multicenter prospective studies powered for early LDS outcomes are warranted. Full article

Corneal nerves play a crucial role in maintaining ocular surface homeostasis by supporting the functional integrity of corneal epithelial, stromal, and endothelial cells; modulating tear secretion; and facilitating sensory responses essential for overall ocular health. With advancing age, these highly specialized peripheral sensory fibers undergo progressive attrition and morphologic distortion driven by the canonical hallmarks of aging including genomic instability, impaired proteostasis, mitochondrial dysfunction, and chronic low-grade inflammation. The resulting neuro-immune dysregulation reduces trophic support, delays wound healing, and predisposes older adults to dry-eye disease, neurotrophic keratopathy, and postsurgical hypoesthesia. Age-exacerbating cofactors including diabetes, dyslipidemia, neurodegenerative disorders, topical preservatives, chronic contact-lens wear, herpes zoster ophthalmicus, and ocular-surface hypoxia further accelerate sub-basal nerve rarefaction and functional decline. This review provides an overview of age-related physiological alterations in ocular surface nerves, with a particular emphasis on corneal innervation. It also discusses risk factors that speed up these changes. Given the inherently limited regenerative capacity of corneal nerves and their inability to fully restore to baseline conditions following injury or degeneration, it is critical to identify and develop effective strategies aimed at mitigating or delaying physiological nerve degeneration and promoting nerve regeneration. This review also brings up emerging therapeutic strategies, including regenerative medicine, neuroprotective agents, and lifestyle interventions aimed at mitigating age-related corneal nerve degeneration. Full article

Dry eye disease (DED) is a highly prevalent multifactorial disorder of the ocular surface that extends beyond local tear film pathology to involve systemic immune, neuroendocrine, and neurosensory mechanisms. Increasing evidence reveals a strong and bidirectional association between DED and psychiatric disorders, particularly depression, anxiety, post-traumatic stress disorder (PTSD), and sleep disturbances. This review synthesises the current knowledge on shared molecular, neuroimmune, and neuropathic pathways that underlie this comorbidity. Key mechanisms include hypothalamic–pituitary–adrenal (HPA) axis dysregulation, systemic and ocular inflammation, oxidative stress, mitochondrial dysfunction, and impaired neurotrophic signaling, especially reduced brain-derived neurotrophic factor (BDNF). Dysregulation of monoaminergic neurotransmitters such as serotonin and norepinephrine not only contributes to mood disturbances but also alters tear secretion and corneal pain perception. Corneal nerve changes and trigeminal–limbic sensitisation further reinforce the overlap between neuropathic ocular pain and affective dysregulation. Psychotropic medications, while essential for psychiatric care, may exacerbate ocular surface dysfunction through anticholinergic effects, altered neurotransmission, and tear film instability, highlighting the iatrogenic dimension of this interface. Conversely, tear-based biomarkers, including cytokines, serotonin, and BDNF, offer promising translational tools for patient stratification, diagnosis, and treatment monitoring across ocular and psychiatric domains. Recognising DED as part of a systemic, biopsychosocial continuum is critical for effective management. Multidisciplinary strategies that integrate ophthalmologic and psychiatric care, alongside novel therapies targeting shared molecular pathways, provide a framework for improving outcomes. Future research should prioritise longitudinal studies, biomarker validation, and personalised interventions to address this complex comorbidity. Full article