In this work, the life cycle of Gnathostoma turgidum was studied both in natural temporary water bodies and under experimental conditions, with materials collected from the municipality of San Francisco Ixhuatán, Oaxaca. Adult nematodes inhabit the interstitial layers of the stomach in the definitive host (Didelphis virginiana) and release their eggs into the environment via faeces, typically in a dry environment. Under these conditions, the eggs remain quiescent until the onset of the rainy season. Development of early third-stage larvae occurs in cyclopoid copepods. Fry acts as transport and/or intermediate hosts, while frogs (Lithobates forreri) serve as obligatory intermediate hosts for advanced third-stage larvae, ultimately transmitting the parasites to the definitive host. Notably, the precocity phenomenon, typical of larval development in intermediate hosts, occurs in this species within the definitive host. Precocity is likely a response to host behaviour or other ecological factors that restrict transmission to narrow spatial and temporal windows. Adults die at the end of the rainy season. The marked seasonality of this species is mainly attributed to the combination of two factors: (i) the seasonal predation of frogs by the definitive host, and (ii) expulsion of adult stages as immune-mediated 'self-cure'. This study represents the first documentation of birds acting as paratenic hosts for this nematode.
The integration of artificial intelligence (AI) into pathology practice is anticipated to drive substantial advancements. Numerous AI-based applications have been reported but the extent of their current clinical applicability remains uncertain. An evidence-informed clinical readiness review was conducted using the assistance of ChatGPT 5.1 Plus Thinking (OpenAI, San Francisco, CA). The initial summary provided by the large language model (LLM) was supplemented with additional data collected through further questioning and "conversation" between the authors and the LLM. The results were verified for accuracy and summarized by topic. The LLM provided useful outlines but extensive and time-consuming additional searches by the authors were needed to collect clinically relevant best evidence. Deep learning models (DLMs) for assistive diagnosis of prostate and breast cancer are being implemented in selected laboratories. DLMs for Pap smear assessment, metastasis detection, molecular inference, and other tasks have achieved promising results in curated settings but need further clinical validation. A variety of chatbots have been developed that show promise to enhance communications with patients and improve laboratory logistics. To date DLMs have shown great potential to improve the integration of clinico-pathologic data and can improve the diagnosis of selected entities. DLMs that can diagnose a more substantial number of pathological entities and provide better standardization of results reporting, prospective multicenter validation, and more detailed cost benefit analysis of AI-based models are needed prior to widespread adoption into the daily clinical practice of pathology.
To assess the impact of Continuity of Care (COC)-care provided by the same Primary Care Physician (PCP)-on outcomes in patients with atrial fibrillation (AF). We conducted a retrospective cohort study including all patients with AF referred by PCPs (n=17,889) between January 2010 and December 2023 in the Santiago de Compostela healthcare area (Spain). COC was categorized as "PCP stability" (care by the assigned PCP) or "interrupted COC" (care by multiple rotating PCPs). The association between COC and outcomes (hospitalization, mortality, stroke, and haemorrhage) was estimated using Cox regression and Fine-Gray competing risk models, adjusted for potential confounders. Patients with PCP stability had a significantly lower annual referral rate (1.5 vs. 1.8, p<0.001) and a higher rate of adequate Oral Anticoagulation (OAC) indication according to the CHA2DS2-VASc score (79.5% vs. 69.1%, p<0.001). COC was independently associated with reduced all-cause mortality (Hazard Ratio [95% CI]: 0.79 [0.69-0.91]), a benefit that remained robust after sensitivity analyses. No significant differences were observed in stroke or haemorrhagic complications; however, competing risk analysis suggests that the higher mortality rate in the interrupted COC group likely precluded the observation of non-fatal events in this high-risk subset. Longitudinal COC in Primary Care is associated with improved clinical management, including better OAC indication, and a significant reduction in all-cause mortality among patients with AF. The survival benefit of seeing the same physician appears to extend beyond anticoagulation optimization, highlighting the pleiotropic value of the patient-physician relationship. Does seeing the same Primary Care Physician prolong life in patients with Atrial Fibrillation? In a large-scale study involving 17,889 patients with atrial fibrillation (AF) in Spain, we investigated the health impact of “Continuity of Care”—defined as consistently seeing the same assigned Primary Care Physician (PCP) over time versus seeing multiple different doctors. Better Management: Patients who maintained a stable relationship with the same PCP were significantly more likely to receive correct oral anticoagulation therapy compared to those with interrupted care.Survival Benefit: The most striking finding was a 21% reduction in the risk of death from any cause among patients treated by the same PCP.The “Human” Factor: Interestingly, statistical analysis suggests that this survival benefit is not solely due to better medication use. We hypothesize that the trust, holistic knowledge, and accumulated experience of a PCP with their specific patient play a critical “pleiotropic” role in preventing fatal outcomes. These findings highlight that in the era of specialized medicine, the stable bond between a patient and their primary care doctor remains a powerful, life-saving tool for managing chronic heart conditions.
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Adults with congenital urologic conditions, such as bladder exstrophy and vesicoureteral reflux, often require lifelong care that begins with childhood surgical reconstructions and extends through adolescence and adulthood with ongoing surveillance, follow-up care, and revision procedures when needed. Measurement of "success" can be difficult to quantify, as the definition of success may differ between parents and patients later in adulthood, and the definition of success should extend beyond f technical success to the broader care interventions and long-term outcomes, which often requires decades of follow-up time. The traditional clinician-defined endpoints may not capture what patients consider as "success" in the context of the adult patients' evolving goals for urinary function, sexual health, fertility, body image, and mental health across the lifetime. Patient-centered outcomes research offers a framework for centering patient voices, yet this has rarely been applied in adult congenital urology. Guided by the Patient-Centered Outcomes Research Institute (PCORI) foundational expectations in patient engagement, we developed a structured community-partnership methodology for the patient-centered research process in lifetime congenital urologic care. The framework includes six steps: (1) partnership formation; (2) inclusive recruitment and relationship building; (3) co-defining research questions; (4) collaborative data generation and interpretation; (5) dissemination and knowledge return; and (6) iterative reflection and process evaluation. We illustrate its application through two collaborations. First, with the Unsilenced Movement (UM), a patient advocacy group addressing medical trauma related to childhood voiding cystourethrogram testing, to qualitatively analyze patient narratives and co-interpret themes related to post-traumatic stress and healthcare avoidance; second, with the Association for the Bladder Exstrophy Community (ABEC) to co-design a patient-driven survey to assess goals, needs, and barriers across the lifespan for those living with bladder exstrophy. In both partnerships, patient representatives served as core research team members, co-authors, and co-presenters of findings, and ensured that patients' lived experiences were translated accurately in a rigorous methodology. This framework shows how early and sustained collaboration with patient advocacy communities can reshape research prioritization, outcome selection, and interpretation of data in lifetime congenital urologic care. By centering patients' lived experiences and defining success together, researchers can move beyond clinician-defined metrics towards outcomes that better reflect patient priorities. This methodology is adaptable to other congenital and chronic conditions requiring complex medical and urological care.
Dementia conditions, including Alzheimer's disease, are progressive disorders for which effective treatments remain under development. Accordingly, interventions that improve quality of life are an important focus of patients, caregivers, and providers, including traditional art forms like painting and sculpture. In this Perspective article, we discuss the use light as a unique form of art to create transformative spaces that stimulate the senses and potentially support wellbeing. We outline an art-science collaborative initiative in which the patients themselves contribute, including through the recording and conversion their EEG brainwave activity to 2D time-frequency spectrogram representations. These representations are transferred to the ancient art of stained glass and installed into the patient's own home. This intervention creates a novel dynamic environment of illumination and colour saturation, derived from the patient and in sync with ever-changing solar and climate influences. Details of the approach and options for meaningful patient-centred customization are described, with illustrations of the procedures and resulting installations, along with thoughts for future improvements.
Adolescent and young adult (AYA) patients with acute lymphoblastic leukemia (ALL) are a growing population with unfavorable outcomes relative to pediatric peers. Historic underrepresentation in prospective studies has complicated unifying recommendations surrounding optimal therapeutic strategy for this group. Retrospective studies highlighting the superiority of pediatric-inspired regimens in this context have given rise to small prospective trials supporting these findings. Data demonstrating concordant implementation of these protocols outside of clinical trials is lacking. We designed a retrospective study summarizing therapeutic strategies for over 200 AYAs with ALL treated within an integrated healthcare system. We found increasing usage of pediatric protocols over the study period associated with higher utilization of outpatient clinic appointments, lower number of inpatient days, equivalent toxicity profiles, and favorable mortality rates. Our findings highlight the wide implementation and superiority of pediatric regimens for AYAs undergoing treatment for ALL in the community setting, for which more data have been needed.
The pathogenetic definition of a partial hydatidiform mole (PHM) is a diandric triploid gestation, thereby requiring short tandem repeat (STR) genotype testing for definitive diagnosis in formalin-fixed products of conception (POC) specimens. However, recent literature shows there is limited access to this test, even in high-income countries. Therefore, we hypothesized that in the United States, access to this test would be enriched in academic centers and commercial reference laboratories. We surveyed the Association for Molecular Pathology membership and directly queried selected commercial laboratories in the United States. The survey identified 13 laboratories (11 in academic centers, 2 in nonacademic centers, 0 commercial laboratories) that offered STR genotype testing for molar pregnancy diagnosis in formalin-fixed POC specimens. Four of the 13 laboratories did not accept specimens from pathologists outside of their health care system. Among the 9 who did, 8 first required that the specimen undergo formal diagnostic consultation in their surgical pathology department. Insufficient demand was the leading rationale reported by survey respondents from laboratories that did not offer this test at all. Separately, direct queries with client service representatives showed that only 1 of 16 selected commercial reference laboratories in the United States offered this test. Given the limited access to STR genotype testing, we propose a new reporting nomenclature system that reflects the level of diagnostic certainty for PHM, depending on whether the diagnosis is based on genotype analysis, ploidy analysis, or morphology alone. Further efforts are needed to educate pathologists who do have access to genotype analysis to select that test format rather than ploidy analysis to evaluate the concern for PHM.
Long-chain fatty acid oxidation disorders (LcFAODs) are rare inherited disorders associated with impaired energy metabolism and increased risk of metabolic decompensation during catabolic stress. With improved diagnosis and care, affected women reach reproductive age, making pregnancy management an emerging clinical challenge. We conducted an international, web-based survey among 55 metabolic centers from 21 countries to assess clinical management of pregnancies in women with lcFAODs focusing on management strategies rather than pregnancy outcomes. The 23-item questionnaire addressed preconception counseling, monitoring strategies, dietary management, peripartum care, postpartum follow-up, and neonatal management. Among respondents, 65% had managed pregnancies in women with lcFAODs, reporting 131 cases, most commonly in CPT2 (n = 52) and VLCAD (n = 44) deficiencies. Preconception counseling and genetic consultation were widely recommended (>85%). Core management principles included dietary adaptation with restriction of long-chain fatty acids, supplementation with medium-chain triglycerides, and prevention of catabolism. Marked inter-center variability was observed in monitoring frequency, biochemical parameters, and follow-up intensity. Creatine kinase was the most used biochemical marker for monitoring metabolic stability. Multidisciplinary care was endorsed but inconsistently implemented, with approximately half of the centers reporting structured multidisciplinary meetings. Individualized peripartum plans were nearly universal, and delivery in specialized centers was generally recommended. Pregnancy in women with lcFAODs is generally considered feasible and safe under specialist metabolic and obstetric care. However, management remains highly heterogeneous, particularly regarding monitoring and multidisciplinary structures. These findings highlight the need for international consensus and standardized care frameworks to optimize maternal and neonatal outcomes.
The AAEV (American Association of Extracellular Vesicles) Annual Meeting at the John P. McGovern Commons in Houston, TX convened over 300 leading researchers, clinicians, and industry experts from around the world to advance the rapidly evolving field of extracellular vesicle (EV) science. EVs, nanoscale lipid-bound particles released by all prokaryotic and eukaryotic cells, have emerged as crucial mediators of intercellular communication, trans- porting proteins, nucleic acids, and lipids that influence a wide spectrum of physiological and pathological processes. Their involvement in immune modulation, tissue regeneration, cancer progression, metabolic regulation, and other complex biological functions positions EVs as promising diagnostic biomarkers and therapeutic delivery agents in precision medicine and personalized healthcare. However, significant challenges persist, including the heterogeneity of EV populations, complexities in isolation and purification, and the pressing need for standardized characterization protocols. The 2024 AAEV's annual gathering provided a pivotal forum for exchanging insights and cultivating collaborations. The meeting featured keynote addresses delved into the intricate heterogeneity, biogenesis pathways, and immu- nomodulatory capabilities of EVs, as well as their contributions to disease progression. Subsequent sessions covered a broad range of topics, showcasing cutting-edge technologies for EV isolation and characterization, revealing novel mechanisms by which EVs modulate immune responses and disease states, and presenting innovative EV engineering approaches for delivering therapeutics. Industry presentations complemented academic discussions by introducing scalable EV production systems, automated isolation methods, specialized analytical tools, and strategies to navigate regulatory pathways. Alongside these presentations, the association supports dissemination of the latest discoveries and methodologies through its flagship publication, Extracellular Vesicle (EV). Collectively, the insights shared at the AAEV Annual Meeting underscored the remarkable progress in understanding EV complexity, refining isolation and analysis techniques and translating fundamental discoveries into clinically actionable solutions. Speakers highlighted advanced isolation platforms, refined bioengineering methods, and efforts to integrate EV-based diagnostics and therapeutics into existing clinical frameworks. As the field matures, the forward momentum reflects a transition from theoretical potential to tangible applications. By fostering global collaboration, strengthening ties between academia and industry, and providing platforms like the EV journal, for ongoing dialogue, the EV community is well-positioned to surmount current challenges and accelerate the integration of EV-based approaches into mainstream healthcare.
Methionine dependence represents a well-known metabolic vulnerability in cancer. Despite promising preclinical results, methionine restriction is impaired by the presence of methionine-independent cancer cells. After confirming both inter- and intra-tumoral heterogeneity in methionine dependence, we demonstrate that "methionine-independent" cells are rather "methionine self-sufficient," relying on the vitamin B12 (B12)-dependent methionine synthase (MTR) to sustain growth without exogenous methionine, which renders them highly vulnerable to B12 deprivation. Dual methionine and B12 deprivation produced synergistic cytotoxicity, inhibiting proliferation and inducing apoptosis across multiple cancer types and primary tumor cells, while sparing fibroblasts. This synergy persisted under moderate nutrient restriction, supporting translational potential. Moreover, dual therapy prevented the adaptive metabolic shift seen with methionine deprivation alone, avoiding rebound proliferation and resistance. In vivo, a methionine-restricted diet plus a synthesized B12 antagonist significantly suppressed growth of methionine-independent pancreatic xenografts without hematologic toxicity. These findings uncover a selective, synergistic anticancer strategy targeting methionine self-sufficiency.
Chronic heart failure (CHF) necessitates ongoing self-management to reduce hospital admissions and enhance clinical outcomes. Mobile health (mHealth) applications are promising tools. However, most lack validated content and user-centered design. This study aimed to identify and validate core content for a CHF-focused mHealth application through expert consensus. A two-round Delphi study was conducted with 24 experts, including physicians, nurses, and patients with CHF. In round one, 39 self-management items were evaluated. Based on quantitative scores and qualitative feedback, 5 items were excluded, and 13 new ones were added. In round two, 44 of 47 items (93.6%) achieved consensus (x̄ ≥ 7.5). Psychometric indicators included standard deviation, Content Validity Ratio (CVR), Content Validity Index (CVI), and Intraclass Correlation Coefficient (ICC). Validated content was categorized into two domains. Domain 1: Recording Functionalities included Signs and Symptoms (x̄ = 8.23 ± 0.88) and Medication Management (x̄ = 8.52 ± 0.94). Domain 2: Therapeutic Education included five classes: Basic Concepts (x̄ = 7.90), Self-care and Disease Management (x̄ = 8.27), Recognition of Signs and Symptoms (x̄ = 8.03), Psychosocial Support (x̄ = 8.15), and Lifestyle Management (x̄ = 8.06). Inter-rater reliability demonstrated variable but generally moderate to good agreement across items (ICC range 0.31-1.00), with statistical significance (p < 0.05). The overall CVI reached 0.82. This study validated 44 items for CHF self-management via mHealth. The participatory, evidence-based approach ensures clinical relevance and usability. Implementation may improve adherence, decrease readmissions, and support quality of life.
The implementation of preference signals in the general surgery match added another layer of complexity to an already intricate system, challenging medical student advisors in effectively guiding their students. This study aimed to explore advisors' experiences counseling applicants about signaling to inform improvements to the signaling process and improve applicant advising. Qualitative analysis of de-identified transcripts from semi-structured interviews of medical student advisors was performed. All interviews were conducted using a video conferencing platform. Eleven formal medical student advisors to general surgery applicants in the 2024 to 2025 application cycle were interviewed. Participants (55% male) included deans (n = 4), clerkship directors (n = 4), and program directors (n = 3) from across the US. Overall, advisors perceived signaling positively, believing that signaling improved applicant equity by decreasing interview hoarding and prestige bias. Advisors recounted common applicant mistakes, including applicants only signaling reach programs, signaling based on prestige instead of "fit," and misjudging their competitiveness for a program. Advisors felt that applicants should focus on signaling programs they are both interested in and competitive for, which requires an individualized strategy based on a balance of professional goals, geographic preferences, and program fit. Advisors noted several challenges they faced, including a lack of transparency regarding how programs use signals, uncertainty in advising students without clear data, and difficulty judging an applicant's competitiveness. While advisors generally acknowledged the positive influence of signals on residency recruitment, the lack of information about the purpose and use of signals limited their ability to provide actionable advice to their students. To effectively guide their students, advisors seek clear communication and evidence-based guidance from national organizations regarding both how signals are supposed to be used by applicants and how signals are used by programs.
Non-invasive transcranial ultrasound stimulation (TUS) enables deep brain therapeutic exploration at unprecedented scale. However, its optimal use is limited by the uncertainty surrounding ultrasound sensitivity across brain regions and cell types. This uncertainty often forces selection of sub-optimal parameter-target treatment paradigms guided solely by precedent, rather than an unbiased search of the larger combinatorial space. In principle, human brain-wide gene expression data could allow for a refinement of the search space based on known mechanisms and associated gene expression. In this perspective, we discuss the practicality of genetically informed TUS parameter search in humans using the Allen Brain Atlas and incorporating a broad set of genes related to the hypothesized mechanisms of TUS neuromodulation. We define principal component expression patterns across the brain, enabling dimensionality reduction and spatial clustering of ultrasound-relevant gene expression data. We identify regional clusters of covarying gene expression profiles across the brain topology that are likely to have similar responsivity to TUS. These findings may explain previous perplexities around highly variant neuronal response across brain areas and highlight the need to optimize stimulation parameters in the context of brain region and its molecular profile.
Bronchiectasis is a heterogeneous chronic lung disease marked by irreversible airway dilation and damage, instigating symptoms of chronic cough, dyspnea, and excessive mucus production. Recurrent exacerbations or infections with ongoing inflammation can lead to impaired quality of life, reduced ability to clear mucus, and even respiratory failure. Dozens of distinct conditions can contribute or coexist with bronchiectasis, often fueling a self-perpetuating vortex of inflammation, infection, and airway remodeling. Aspiration results in foreign particles into the airway can cause chemical pneumonitis from gastric contents, airway inflammation, and/or infection, with repeated exposures producing chronic injury. As clinical expertise has grown, aspiration-related pathology has acquired attention as a potential contributor to bronchiectasis and chronic lung infections, including nontuberculous mycobacteria (NTM), extrapolating from characterized relationships in other chronic lung diseases. Nonspecific symptoms, diagnostic challenges, and incomplete data characterizing the relationship have hindered the development of clear guidelines. Additionally, the necessity for multidisciplinary care can delay timely management. Here, we assembled a multidisciplinary team of experts to evaluate retrograde and anterograde aspiration as modifiable comorbidities to bronchiectasis through case-based formatting. Using this scaffold and a narrative literature review, we provide clinical perspective on who, when, and how to test for aspiration from swallowing dysfunction and reflux disease. Our purpose is to raise awareness of aspiration, enhance evaluation by improving the pulmonologist's knowledge of test selection and interpretation, highlight the value of cross-disciplinary discussion, outline basic management strategies, and inspire further studies within bronchiectasis and chronic lung infection populations.
To assess whether (1) household firearm ownership and, among firearm-owning households, (2) household firearm storage are associated with healthcare engagement. Data were from the 2024 Behavioral Risk Factor Surveillance System from 19 US states (N = 145,720), including a subsample of respondents living in firearm-owning households (n = 54,125). Four indicators of healthcare engagement were assessed: health insurance status, having a personal healthcare provider, cost as a barrier to care, and time since last routine checkup. Multiply imputed, weighted multivariable logistic regression models were used to estimate associations between (1) household firearm ownership and (2) household firearm storage (unloaded, loaded and locked, and loaded and unlocked) and healthcare engagement, adjusting for age, sex, race/ethnicity, marital status, educational attainment, income, presence of a child in the home, military veteran, bad physical health days, urban-rural classification, and state of residence. In covariate-adjusted models, household firearm ownership was associated with a higher odds of having a personal health care provider (adjusted odds ratio [aOR] = 1.12, 95% Confidence Interval [CI] = 1.03-1.21) compared with non-firearm-owning households. Household firearm ownership was not associated with any other healthcare engagement measure. Among firearm-owning households, storing firearms loaded and unlocked was associated with a lower odds lower odds of having health insurance (aOR = 0.65, 95% CI = 0.51-0.83), have a personal health care provider (aOR = 0.64, 95% CI = 0.54-0.76), and time since last routine checkup (aOR = 0.80, 95% CI = 0.69-0.92), compared to storing a firearm unloaded. These findings highlight the potential value of integrating firearm safety discussions into clinical visits and the need to develop strategies for reaching patients who store firearms unsecured and who engage less consistently with the healthcare system.
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This study presents the synthesis and biological evaluation of two DAPA-conjugated platinum-(II) complexes, PMX114 and PMX118, designed as structural analogues of cisplatin and carboplatin. Comparative cytotoxicity assays in cisplatin-sensitive and cisplatin-resistant A2780 ovarian cancer cells showed that PMX114 maintained activity in the resistant cell line, with a resistance index close to unity, although its absolute IC50 values remained higher than those of cisplatin in the sensitive strain. Mass cytometry analysis confirmed substantially greater intracellular platinum accumulation with PMX114 relative to carboplatin. Pharmacokinetic profiling of PMX114 in mice informed subsequent in vivo efficacy studies in xenograft models, in which both PMX114 and carboplatin significantly reduced tumor volumes. At equimolar doses, PMX114 (75 mg/kg) produced a numerically greater reduction in tumor burden than carboplatin (60 mg/kg), although this difference did not reach statistical significance. Guided by the structural design of the complexes, additional studies examined whether PMX114 engages biotin-receptor-mediated uptake. Cancer cell lines with differential biotin receptor expression were treated with PMX114 and compared with carboplatin. Mass cytometry revealed markedly higher intracellular platinum accumulation with PMX114, and pretreatment with excess biotin attenuated uptake, implicating SMVT-mediated transport. PMX118 demonstrated similar uptake behavior but exhibited substantially weaker cytotoxicity in initial assays; therefore, subsequent mechanistic and in vivo studies focused on PMX114. Collectively, these findings support PMX114 as a promising candidate for further development as a biotin-targeted platinum-(II) chemotherapeutic with potential advantages in resistant tumor settings.
Circulating tumor cells (CTCs) shed by solid tumors can travel to distant sites to initiate metastatic foci. These cells can be detected in the blood and bone marrow. In addition, CTCs can be found in fluids that accumulate in the pleural or peritoneal cavity, a complication of metastatic cancer called malignant effusion. Efforts to characterize CTCs in malignant effusions can face limitations because of the low proportion of CTCs relative to other cells (primarily immune cells) in these fluids. Therefore, expanding CTCs through in vitro culture could address this limitation and enable functional studies. Here, we describe a method for culturing breast cancer CTCs as organoids (clusters of tumor cells) amenable to downstream profiling and functional studies.
Leber hereditary optic neuropathy (LHON) constitutes a mitochondrial disorder characterized by subacute, bilateral central vision impairment, secondary to mitochondrial DNA (mtDNA) mutations. These mutations compromise Complex I, subsequently precipitating the degeneration of retinal ganglion cells (RGCs). While traditionally manifesting in young males, contemporary literature has documented a small number of cases of late-onset presentation. Numerous studies have suggested the existence of a distinct clinical phenotype, particularly concerning the funduscopic features of the optic disc. Elucidating this atypical manifestation is paramount to preclude diagnostic inaccuracies and to refine therapeutic intervention. In this context, we describe the case of a 70-year-old male presenting with progressive bilateral vision loss and diffuse thinning of the ganglion cell complex on optical coherence tomography (OCT), notably lacking the hyperaemic phase typical of younger patients. Genetic analysis confirmed the homoplasmic m.14484T>C mutation; however, despite the traditionally favourable prognosis associated with this variant, the patient progressed to permanent optic atrophy with no functional recovery. By reporting this case of late-onset LHON and providing a comprehensive review of clinical cases documented in recent literature, our objective is to ascertain whether late-onset presentation endows this clinical entity with additional distinguishing characteristics.