Search Results (286)

Introduction: Caregiving has been an emerging public health priority mainly due to the rapid pace of population aging, increase in chronic diseases and shortages of health professionals. In clinical settings, caregivers have a crucial role by providing support to patients. Consequently, they may experience physical and emotional burden mainly attributed to environmental, personal or family stressors. The aim of this study was to evaluate fatigue and the associated factors among caregivers of hospitalized patients in medical-surgical wards. Methods and Material: In the present study caregivers of hospitalized patients in medical and surgical wards were enrolled. Collection of data was performed with the following: a. Fatigue Assessment Scale (FAS), b. Zung Self-Rating Anxiety Scale (SAS) and c. Athens Insomnia Scale (AIS), which included patients’ characteristics. In this cross-sectional study, participants were selected using the method of convenience sampling. Results: Of the 142 participants, the majority were spouses (64.8%), female (64.8%) and over 60 years old (53.6%). The mean FAS score was 25.9 ± 9.3, the mean SAS was 38.1 ± 9.0, and the mean AIS score was 7.6 ± 4.7, indicating moderate, moderate to low and moderate levels of fatigue, anxiety and insomnia, respectively. Moreover, fatigue showed a positive linear correlation with both anxiety (Spearman’s rho = 0.713) and insomnia (Spearman’s rho = 0.671). The factors found to be statistically significantly associated with caregivers’ fatigue were the following: gender (p = 0.001), length of hospitalization (p = 0.013), experience of environmental stressors (p = 0.045), experience of financial stressors (p = 0.001), and unfamiliarity with the provision of care (p = 0.001). Conclusions: Provided that caregivers’ involvement in care not only enhances patient well-being but also supports clinical teams, it is widely comprehended that addressing their needs should be emphasized. Full article

Osteoarthritis (OA) is a degenerative joint disease characterized by progressive cartilage loss, extracellular matrix degradation, chondrocyte apoptosis, and elevated inflammatory mediators. Chondrocytes respond to IL-1β and other inflammatory signals by secreting cytokines and activating transcriptional pathways that perpetuate inflammation. Because current therapies do not prevent OA progression, bioactive compounds with cytoprotective and immunomodulatory activity are of considerable interest. Lonomia obliqua bristle extract (LOCBE) and its recombinant proteins rLOPAP and rLOSAC exhibit cytoprotective, proliferative, and antioxidant effects in mammalian cells, as well as the ability to influence cytoskeletal dynamics. Given the importance of Rac-1, RhoA, Rab9, and β-catenin in chondrocyte function and cartilage homeostasis, we evaluated LOCBE, rLOPAP, and rLOSAC in human chondrocytes stimulated or not with IL-1β. LOCBE and rLOPAP induced IL-6 and IL-8 secretion, although at lower levels than IL-1β. LOCBE exerts a cytoprotective effect in IL-1β-treated chondrocytes and reduces β-catenin, RhoA, and Rab9 expression without affecting NF-κB p65 translocation. rLOPAP increased mitochondrial activity, cytokine secretion, Rab9 expression, and membrane-associated β-catenin, and under inflammatory conditions, enhanced Rac-1 levels. In contrast, rLOSAC did not induce inflammatory cytokines and decreased RhoA and Rac-1 expression while increasing membrane-associated β-catenin. These findings suggest that L. obliqua extract and its derived-proteins rLOPAP and rLOSAC modulate cytoskeletal regulatory pathways and inflammatory responses in chondrocytes, supporting their potential as therapeutic leads for targeting mechanisms relevant to OA progression. Full article

Reservoir petrophysical characterization is traditionally performed through the interpretation of well logs validated with routine core analysis (RCAL), often excluding the integration of other tools such as computed tomography (CT), which provides interpretation of higher resolution. In this study, artificial neural network (ANN) models were applied to estimate porosity and permeability by integrating conventional logs with CT-derived data (RHOB and PEF), thereby validating the petrophysical model of Ciénaga de Oro Formation. Neural networks were trained in MATLAB^® using a feed-forward regression network based on a multilayer perceptron (MLP) architecture, with RCAL measurements serving as a reference. Model performance was assessed by comparing predictions with laboratory data from two wells, yielding high accuracy (R² = 0.98 for permeability and R² = 0.90 for porosity) with mean absolute errors below 5%. Additional validation was performed using well logs and CT data from complete 3 ft sections, with the trained models successfully reproducing core heterogeneities at millimetric resolution. These results confirm the potential of integrating well logs and CT data with ANN to enhance petrophysical characterization and extend property estimation to wells lacking core or laboratory measurements. Furthermore, an interactive MATLAB^® tool was developed, enabling users to load well logs and CT files as flat inputs, generate high-resolution predictions, validate results, and export the estimated values. Full article

We aimed to investigate the association between oxidative stress (OS), inflammation, and kidney function and the predictive ability of OS for mortality and cardiovascular disease in 143 patients with type 2 diabetes (T2DM) and various degrees of kidney function. At baseline, we assessed catalase, nitrogen oxides (NOx), malondialdehyde (MDA), advanced oxidation products (AOPPs), myeloperoxidase (MPO)], kidney function, and C-reactive protein (CRP). All patients were followed for 57 months, with the combined primary outcome of death/cardiovascular (CV) event, whichever occurred first. NOx was an independent predictor of estimated glomerular filtration rate (B = −0.097, p = 0.006), and MPO was correlated with glycated hemoglobin (r = 0.17, p = 0.046), CRP (r = −0.18, p = 0.032), and serum albumin (r = 0.2, p = 0.011, Spearman’s rho). During the follow-up, 24 composite events were documented. Kaplan–Meier curves showed that smoking (p = 0.029), serum albumin (p = 0.014), and MPO (p = 0.024, log-rank test) were associated with the outcome. In multivariate Cox regression models, smoking and MPO were independent predictors of the composite outcome (hazard ratio—HR = 2.8, p = 0.004, 955 confidence interval—CI 1.05–7.5 and HR = 0.99, p = 0.015, 95% CI: 0.98–1.00, respectively), after adjustment for several cofactors. OS might be associated with CV disease in T2DM. Full article

Background. Few studies have evaluated physical fitness (PF) and physical activity (PA) in individuals with heart failure and type 2 diabetes mellitus and the possibility that some telemedicine programs (TMPs) may impact them. This post hoc subgroup analysis of an RCT study aimed to describe PF and PA in this population before and after a TMP. Methods. We evaluated (a) PF as distance, assessed via the 6-Minute Walking Test (6MWT), and PA as daily step count in this population before and after a TMP; (b) their relationship; and (c) the patient characteristics that influence PF and PA. Results. Fifty-eight patients (aged 71.31 ± 7.92 years old, 84% male, BMI 28.01 ± 4.70 Kg/m², ejection fraction 48.64 ± 10.64%) were enrolled between August 2022 and September 2024. All patients received a six-month TMP (nurse teleassistance, telemonitoring, a dedicated app, and PA evaluation using a tracker bracelet and step count goals). The 6MWT improved (from 418 ± 113 to 439 ± 120 m, p < 0.001), while PA remained unchanged after the TMP (from 7181 ± 4149 to 7229 ± 4947 steps/day, p = 0.92). The PA and PF association ranged from moderate at baseline (rho = 0.4958, p < 0.001) to strong at the end of the study (rho = 0.6807, p < 0.001). The regression model shows that following the TMP, PA(y) was associated with baseline 6MWT [β= 8.5, 95%IC −0.31; 17.24], age (β = −144.0, 95%IC −262.14; −25.90)), baseline daily steps (β = 0.5967, 95%IC 0.37; 0.82), and HDL cholesterol (β = 119.7, 95%IC 39.07; 200.31) (R²= 0.6580, F(4.53) = 25.49, p < 0.001), while PF(y) was associated with BMI (β= −2.04, 95%IC −4.30; 0.22)), age (β= 0.90, 95%IC −4.4; 1.32), and baseline 6MWT (β = 0.90, 95%IC 0.79; 1.00) (R² = 0.9007, F(3.54) = 163.29, p < 0.001). Conclusions. Our TMP led to a statistically significant but clinically modest improvement in PF but did not impact PA despite there being variability among patients. PA and PF appear to be interdependent. PF, age, HDL cholesterol, and baseline PA were key predictors of PA, while BMI, age, and baseline 6MWT impacted PF at the end of the TMP. Full article

Background/Objectives: Transdermal formulations are widely utilized in the pharmaceutical and cosmetic fields because they enable non-invasive administration and sustained local drug delivery. Conventional ex vivo skin permeation experiments using Franz diffusion cells have limitations in capturing the spatial and temporal dynamics of skin penetration. This study aimed to develop a confocal laser scanning microscopy (CLSM)-based approach to visualize and semi-quantitatively assess the penetration behavior of fluorescent dyes with differing lipophilicities. Methods: Four fluorescent dyes with different Log P values—Rhodamine B (Rho-B), Rhodamine 123 (Rho-123), Fluorescein Sodium (Flu-Na), and Nile Red (NR)—were formulated into lotion-based vehicles and applied to excised human abdominal skin. CLSM imaging was performed from 10 min to 240 min post-application. Fluorescence intensities were extracted from depth-resolved regions (R1–R4, 30-μm intervals) to examine penetration kinetics and distribution. Results: CLSM imaging demonstrated that Rho-B penetrated through stratum corneum and entered deep into the skin via the hair follicles. Rho-123 and Flu-Na exhibited intercellular and follicular penetration; however, Flu-Na showed only a slight increase in intensity over time; NR showed negligible penetration into the deeper layers. The results of our analysis indicated that moderately lipophilic substances such as Rho-B and Rho-123 diffused deeply into the skin via both transdermal and follicular routes, whereas highly hydrophobic or lipophilic substances remained in the superficial layers. Conclusions: The CLSM-based approach enabled spatially and temporally resolved, semi-quantitative evaluation of transdermal penetration in a single, non-destructive experiment. Although restricted to fluorescent probes, this approach provides a practical early-stage screening tool for comparing route-specific and time-dependent penetration behaviors of compounds with different lipophilicities. Full article

Background/Objectives: Rho small GTPases (RSG), which regulates metastasis, constitute eight subfamilies—“classical” Rho, Rac, cdc42, and “atypical” Rif, Rnd, Wrch, RhoH, and RhoBTB. Their downstream signaling requires switching between GTP-bound active and GDP-bound inactive forms. Classical RSGs, but not atypical RSGs, require regulation by guanine nucleotide exchange factors (GEF), GTPase-activating proteins (GAP) and guanine nucleotide dissociation inhibitors (GDI) to achieve this switch. The objective of this review is to summarize the roles of RSGs in metastatic prostate cancer (mPCa) and their interaction with the androgen receptor (AR), which regulates this disease. Methods: We summarize the literature that describes the role of RSGs in mPCa, and their interaction with the AR. Results: Classical RSGs mostly promote metastasis (except RhoB), whereas atypical RSGs, with exceptions, mostly prevent it. Their role, however, is context-dependent—e.g., RhoB is tumor-suppressive in AR-null PCa but oncogenic in AR-positive tumors. The AR modulates RSG expression transcriptionally, but also affects their function through modulation of GEFs, GAPs, and GDIs. In turn, RSGs also regulate AR transcriptional activity. Interestingly, RSGs and the AR have non-genomic interactions via membrane-localized AR (mAR) not affected by AR inhibitors. Conclusions: Drugs that target RSGs are needed along with AR inhibitors to prevent mPCa progression. Full article

Retinal degeneration (RD) is an intractable ophthalmic disorder with no effective treatments, and its pathogenesis is complex, involving multiple genes. Endoplasmic reticulum (ER) stress and neuronal apoptosis are key factors that drive neurodegeneration in retinal degeneration. B cell receptor-associated protein 31 (BAP31) is a transmembrane protein predominantly found in the ER, which plays an important role in regulating ER stress and apoptosis. To date, no studies have directly confirmed the association between BAP31 and retinal degenerative diseases. However, considering that ER dysfunction is a key trigger for retinal photoreceptor cell damage and that BAP31 acts as a core regulator of ER function, we hypothesize that BAP31 may be involved in the development of retinal degeneration by regulating ER homeostasis. Our study aimed to investigate the pathogenic mechanisms of BAP31 in retinal disorders. A rod-specific conditional knockdown of BAP31 mouse model (Rho-iCre-BAP31^fl/fl(−/−)) was employed to explore the role of BAP31 in retinal pathogenesis. The Rho-iCre-BAP31^fl/fl(−/−) mice exhibited phenotypes similar to retinitis pigmentosa (RP), including decreased ERG responses, photoreceptor degeneration, and reduced visual function. Optical coherence tomography (OCT) results showed that the outer nuclear layer (ONL) of the retina in conditional knockdown mice exhibited progressive thinning after 9 months of age; histopathological examination results were consistent with those of OCT. These findings indicated that the rod photoreceptor cells in the conditional knockdown mice showed damage and irregular arrangement starting at 9 months of age, with more prominent changes by 12 months. RNA sequence analysis of 12-month-old mice indicated enrichment of the phototransduction pathway, with significant downregulation of key genes (rhodopsin, recoverin, Gnat1, Pde6a, and Pde6b) involved in retinal development and phototransduction, along with a marked increase in Gfap expression (indicating glial activation and retinal damage). Quantitative real-time PCR and Western blot analyses showed significant upregulation of unfolded protein response (UPR) marker proteins (BIP, CHOP, XBP1, ATF4, ATF6), demonstrating robust ER stress activation. The findings suggest that BAP31 deficiency induces retinal degeneration, and the activation of the ER stress may contribute to the pathogenic mechanisms underlying this process. Full article

Characterized by social communication deficits and the presence of restricted and repetitive behaviors, autism spectrum disorder (ASD) is a significant neurodevelopmental condition. Genetic studies have revealed a strong association between ASD and numerous mutations that alter the function of key proteins, either through activation or inactivation. These alterations are widely hypothesized to affect neuronal morphogenesis; however, a comprehensive understanding of the specific molecular cascades driving these cellular and symptomatic changes remains lacking. In this study, we report for the first time that signaling through the atypical Rho family guanine-nucleotide exchange factor (GEF) Dock7 and ErbB2, an activator acting upstream of Dock7, drives the excessive elongation of neuronal processes observed in association with the ASD- and intellectual disability (ID)-linked semaphorin-5A (Sema5A) Arg676Cys variant (p.Arg676Cys). Knockdown of Dock7 using short hairpin RNA or inhibition of ErbB2 kinase signaling with a specific chemical inhibitor reduced this excessive process elongation in primary cortical neurons. Similar results were obtained in the N1E-115 cell line, a neuronal cell model that undergoes neuronal morphological differentiation. Moreover, inhibition of ErbB2-Dock7 signaling specifically decreased the overactivation of the downstream molecules Rac1 and Cdc42. These findings indicate that the ErbB2–Dock7 signaling axis plays a role in mediating the aberrant neuronal morphology associated with the ASD- and ID-linked Sema5A p.Arg676Cys. Targeting this pathway may therefore offer a potential approach to addressing the molecular and cellular developmental challenges observed in ASD. Full article

Background and Objectives: Analgesia and sedation are a major challenge in pediatric intensive care. The COMFORT-B scale and the Bispectral Index (BIS) are commonly used to assess the degree of sedation. The aim of this study was to investigate the correlation between the COMFORT-B and BIS and to evaluate the predictive validity of the BIS scale. Materials and Methods: Mechanically ventilated children (n = 41) diagnosed with acute bronchiolitis and treated with fentanyl and midazolam were included in the study. COMFORT-B and BIS scores were recorded over a 7-day observation period. Patients were divided into subgroups based on chronological age, neuromuscular blocker use, and level of sedation. Statistical analyses included correlation analysis by subject and time, simple moving average trend analysis, linear mixed-effects modeling and random forest. Results: Conventional correlation analysis revealed a weak to moderate correlation between the two scales in the entire cohort (Spearman rho of patients’ means 0.42, p = 0.007). The longitudinal correlation analysis by individual patient showed no significant relationship between the two scales in the entire cohort (CCF 0-lag 0.23; p = 0.33) or any subgroup. Linear mixed-effects model analysis showed that BIS score was associated with COMFORT-B score (slope = 0.799, p = 0.0002). The random forest model explained 19.6% of the variance. Both models yielded similar prediction errors (RMSE 10.6 and 11.3, respectively). Conclusions: We found a weak correlation between the two scales, which does not allow for reliable and valid predictions between the two scales. The BIS scale is suitable for the assessment of deep sedation, whereas the COMFORT-B scale is suitable for the assessment of moderate sedation. Full article

Background/Objectives: Subjective well-being (SWB) in children is a key indicator of healthy development, influenced by physical activity and sports, with physical literacy (PL) as a potential mediator. Traditional linear models overlook non-linear and heterogeneous effects in diverse populations. This study uses causal machine learning (ML) to examine PL’s mediating role between sports participation and SWB in a multinational cohort. Methods: Data from the International Survey of Children’s Well-Being (ISCWeB) (n = 128,184 children aged 6–14, 35 countries) were analyzed. SWB was a composite (six items, α = 0.85); PL was a proxy (three items excluding sports frequency, α = 0.70); sports participation was continuous (0–5). Confounders were age, gender, parental listening, and school satisfaction. CausalForestDML estimated the effects; GroupKFold and bootstrap were used for robustness; SHAP/PDP was used for interpretability. Results: Total ATE = 0.083 (95% CI [0.073, 0.094]); indirect via PL = 0.055 (CI [0.049, 0.061]); direct = 0.028 (CI [0.020, 0.038]); mediation proportion = 0.660. Sensitivity with lean PL (2 items) was as follows: indirect = 0.045 (CI [0.040, 0.050]). For SHAP, school satisfaction was (+0.28), and parents were (+0.20) top. For PDP, there was a non-linear rise at PL 4–6 (+1.2 units) and a plateau ~9.2. The cross-cultural mean ATE = 0.083 ± 0.01 (from within-country meta-analysis); this was stronger in older children (CATE 0.30 for 12–14). For Rho sensitivity at 0.1, it was indirect −0.129; at Rho sensitivity of 0.2, it was −0.314 (robust to low confounding). Conclusions: The findings, grounded in SDT/PYD, support interventions targeting PL through sports to enhance SWB, addressing inactivity. Limitations are its cross-sectional nature and proxy measures; we recommend longitudinal studies. Full article

Background: Patients with chronic lymphocytic leukemia (CLL) who were not receiving treatment were included in this experimental prospective correlation study. We aimed to elucidate the complex relationship between smudge cells, surface CD20, and soluble CD20 in CLL patients. Methods: We created blood smears from blood samples collected from our patients using a manual technique consistently performed by the same technician. The May–Grunwald Giemsa dye was used to stain all of the slides. The B-cell phenotypic was analyzed using the FacsCanto II flow cytometer (Becton Dickinson, CA, USA) at the time of diagnosis. Competitive Enzyme-Linked Immunoassay (ELISA) was used to quantitatively assess the amounts of soluble CD20/MS4A1. Results: The percentage of smudge cells and soluble CD20 antigen levels were shown to be significantly inversely correlated, suggesting a considerable link (correlation coefficient (r) = −0.51, p = 0.006). Similarly, a significant inverse relationship (r = −0.36, p = 0.04) was found by the Spearman correlation test between the smudge cell ratio and CD20 median fluorescence intensity (MFI) on cell surfaces. Soluble CD20/MS4A1 and surface CD20 MFI were shown to have a weakly positive association that was almost statistically significant (Spearman’s rho = 0.34, p = 0.064). With a sensitivity of 69% and specificity of 86%, we discovered that a cut-off value of 2.2 ng/dL for soluble CD20 predicted higher smudge cells (area under the curve (95% confidence interval (CI)): 0.75 (0.57 to 0.93), p = 0.021). Conclusions: We found a significant inverse association between smudge cells and both surface CD20 and soluble CD20/MS4A1 in our study examining the correlation between smudge cells, soluble CD20, and CD20/MS4A1 in CLL patients. Our findings indicate that soluble CD20 may contribute to understanding the pathophysiology of smudge cells and could be further investigated as a potential prognostic marker in CLL. Full article

Investigating immunological and viral reservoir dynamics in blood and GALT during acute HIV phase advances understanding of HIV persistence. Dynamics of T cells and HIV reservoirs immediately after early ART require further investigation. We evaluated the ART impact at 12 (M12) and 24 months (M24) on immunological, virological and reservoir markers of 24 participants starting ART at Fiebig ≤ V (Baseline = D0) in a Brazilian cohort. We measured the frequency of T cell activation, exhaustion, memory subsets, Th17 and pTfh cells by flow cytometry and quantified total HIV DNA by qPCR in PBMC and GALT. Most participants were cisgender MSM (95.9%), with a median age of 27 years (IQR 25–36). At enrollment (D0), four participants used triple ART as PEP, and two were under oral PrEP and they exhibited higher CD4/CD8 ratios. Higher CD4/CD8 ratios were also observed in participants classified as Fiebig I to III. A total of 92% achieved viral suppression at M12 and 96% at M24. CD4 counts rose from 646 to 861 cells/mm³, and the CD4/CD8 ratio improved from 0.76 to 1.24 (p < 0.01). HIV DNA in PBMCs decreased 4-fold by M12 and 61-fold by M24, with 50% of participants reaching undetectable levels by M24 (p < 0.01). In GALT, undetectable HIV DNA increased from 27% at D0 to 75% at M12. HIV DNA in PBMCs and GALT correlated with plasma VL, while the CD4/CD8 ratio was inversely linked to PBMC reservoirs (rho = −0.66; p < 0.05). Early ART reduced activated CD8⁺ T cells (p < 0.05) but had minimal effects on CD4⁺ T cells or exhaustion markers. By M24, CD8⁺ TCM increased, and CD8⁺ TEF decreased (p < 0.01), while Th17 and pTfh levels remained stable. Early ART led to viral suppression and immune restoration, and influenced reservoir dynamics. The CD4/CD8 ratio was shown to be a key marker of early treatment success. Since a quarter of the participants were identified while initiating PrEP/PEP, it is important to consider the acute phase window according to vulnerability. Recent PEP/PrEP use often excludes participants from clinical trials on bNAbs and therapeutic vaccines targeting viral reservoirs during the acute phase of HIV. Since these are the populations that may benefit from these strategies, larger studies including those people are needed. Full article

Osteoarthritis (OA) lacks disease-modifying therapies, in part because key features of the joint microenvironment remain underappreciated. One such feature is localized acidosis, characterized by sustained reductions in extracellular pH within the cartilage, meniscus, and the osteochondral interface despite near-neutral bulk synovial fluid. We synthesize current evidence on the origins, sensing, and consequences of joint acidosis in OA. Metabolic drivers include hypoxia-biased glycolysis in avascular cartilage, cytokine-driven reprogramming in the synovium, and limits in proton/lactate extrusion (e.g., monocarboxylate transporters (MCTs)), with additional contributions from fixed-charge matrix chemistry and osteoclast-mediated acidification at the osteochondral junction. Acidic niches shift proteolysis toward cathepsins, suppress anabolic control, and trigger chondrocyte stress responses (calcium overload, autophagy, senescence, apoptosis). In the nociceptive axis, protons engage ASIC3 and sensitize TRPV1, linking acidity to pain. Joint cells detect pH through two complementary sensor classes: proton-sensing GPCRs (GPR4, GPR65/TDAG8, GPR68/OGR1, GPR132/G2A), which couple to G_s, G_q/11, and G_12/13 pathways converging on MAPK, NF-κB, CREB, and RhoA/ROCK; and proton-gated ion channels (ASIC1a/3, TRPV1), which convert acidity into electrical and Ca²⁺ signals. Therapeutic implications include inhibition of acid-enabled proteases (e.g., cathepsin K), pharmacologic modulation of pH-sensing receptors (with emerging interest in GPR68 and GPR4), ASIC/TRPV1-targeted analgesia, metabolic control of lactate generation, and pH-responsive intra-articular delivery systems. We outline research priorities for pH-aware clinical phenotyping and imaging, cell-type-resolved signaling maps, and targeted interventions in ‘acidotic OA’ endotypes. Framing acidosis as an actionable component of OA pathogenesis provides a coherent basis for mechanism-anchored, locality-specific disease modification. Full article

Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative genes. Methods: This longitudinal, retrospective, monocentric study included patients with genetically confirmed IRD identified from our database. Targeted next-generation sequencing (351-gene panel) and comprehensive ophthalmic evaluation were performed, including best-corrected visual acuity (BCVA) and spectral domain optical coherence tomography (SD-OCT). CML was defined as intraretinal hyporeflective spaces with well-defined borders visible on at least two B-scans within the SD-OCT macular volume and was categorized as cystoid macular edema (CME) or non-CME. Results: We enrolled 430 patients with genetically confirmed IRDs. CML was detected in 93 eyes of 57 patients. Mean age at OCT was 36.6 ± 18.7 years (range, 3–76); 32 were male (56.1%). Inheritance patterns were autosomal recessive in 24 (42.1%), X-linked in 19 (33.3%), and autosomal dominant in 14 (24.6%). Frequently implicated genes were RS1 (12/57), USH2A (7/57), NR2E3 (7/57), PRPF31 (4/57), RPGR (4/57), and RHO (4/57). CME predominated in retinitis pigmentosa (32/57, 56%), with mean BCVA 0.44 ± 0.29 (decimal) and central retinal thickness (CRT) 401 ± 181 µm. Non-CME CML occurred in 25/57 (44%)—notably in X-linked retinoschisis and enhanced S-cone syndrome—with BCVA 0.40 ± 0.23 and CRT 465 ± 258 µm. BCVA did not correlate with CRT (r_S = 0.18). Conclusions: CML occurred in 13.2% of patients within a large Hungarian cohort of genetically confirmed IRDs. Patients with IRD—mainly RP—are at higher risk for CML. Gene therapy is promising for retinal diseases, but CMLs can compromise effectiveness. Reducing and managing CME before gene therapy corroborates retinal stability and the functional state essential for the proper delivery and penetration of corrective genes to the target cells. Full article