Multi-omics combined approach to analyze the mechanism of flavor evolution in sturgeon caviar (Acipenser gueldenstaedtii) during refrigeration storage.

Multi-omics techniques were combined with microstructure, molecular sensory science and non-volatile matrices for the first time to investigate variations in organic macromolecules and flavor in caviar during preservation. After 4-6 weeks of storage, the peroxide value was 35.38 mg/g and the accumulation of thiobarbiturates was significant with caviar membranes exhibiting a decrease in elasticity and an increase in viscosity. Sixteen key volatile compounds were detected by GC-MS, while the volatile compounds that contributed to the differences in caviar flavor at different storage times were mainly tetradecane, (E)-2-hexenal, and heptanal. The pathways associated with flavor release during storage were mainly abundant in the linolenic acid metabolism, alanine metabolism, and glycerophospholipid metabolism pathways. The correlation of 11 differential proteins and 24 differential lipids with odorants was further explored, such as arginine, proline, alanine, PE (20:4/22:6), PE (16:1/18:2), and PE (20:5/18:2). Overall, Aspartate, glutamate, oleic acid, linoleic acid, and phospholipids enriched in C22:6 and C18:2 chains are potential metabolic markers. This study provides a basis from a multi-omics perspective for the investigation of the relationship between quality deterioration and precursor metabolism in caviar storage process.

From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China.

BACKGROUND: Variants in the RPGR are the leading cause of X-linked retinopathies (XLRPs). Further in-depth investigation is needed to understand the natural history. METHODS: Review of all case records, molecular genetic testing results, best-corrected visual acuity (BCVA), retinal imaging data (including fundus autofluorescence imaging and optical coherence tomography (OCT)), static visual field (VF) assessments and full-field electroretinogram. RESULTS: Genetic testing was conducted on 104 male patients from 89 family pedigrees, identifying 22 novel variants and 1 de novo variant. The initial symptoms appeared in 78.2% of patients at a median age of 5 years. BCVA declined at a mean rate of 0.02 (IQR, 0-0.04) logarithm of the minimum angle of resolution per year, with a gradual, non-linear decrease over the first 40 years. Autofluorescence imaging revealed macular atrophy at a median age of 36.1 (IQR, 29.9-43.2) years. Patients experienced blindness at a median age of 42.5 (IQR, 32.9-45.2) years according to WHO visual impairment categories. OCT analysis showed a mean ellipsoid zone narrowing rate of 23.3 (IQR, -1.04-22.29) µm/month, with an accelerated reduction in the first 40 years (p<0.01). The median age at which ERG no longer detected a waveform was 26.5 (IQR, 20.5-32.8) years. Comparison by variant location indicated faster progression in patients with exon 1-14 variants during the initial two decades, while those with ORF15 variants showed accelerated progression from the third decade. CONCLUSIONS: We provide a foundation for determining the treatment window and an objective basis for evaluating the therapeutic efficacy of gene therapy for XLRP.

Mechanism of low-voltage electrostatic field on flavor retention in refrigerated sturgeon caviar: Insights from phospholipids.

This study investigated the effect of low-voltage electrostatic field on the flavor quality changes and generation pathways of refrigerated sturgeon caviar. Research has found that after storage for 3-6 weeks, the physicochemical properties of caviar in the LVEF treatment group are better than those in the control group. The results of two-dimensional gas chromatography-time-of-flight mass spectrometry showed that the contents of hexanal, nonanal, (E,Z)-2,6-nonadienal, (E)-2-octenal and 1-octene-3-one related to the characteristic flavor of caviar (sweet, fruity and green) increased significantly. The lipidomics results indicated that the effects of LVEF on caviar mainly involve glycerophospholipid metabolism, linoleic acid metabolism, and α-Linolenic acid metabolism. Methanophosphatidylcholine (15:0/18:1), phosphatidylcholine (18:0/20:5), and phosphatidylcholine (18,1e/22:6) were significantly correlated with odor formation. Therefore, low-voltage electrostatic field treatment preserved the quality and enhanced the flavor of sturgeon caviar. This study provided a new theoretical basis for the preservation of sturgeon caviar.

The kinetic study of 2-acetyl-1-pyrroline accumulation in the model system: An insight into enhancing rice flavor through the Maillard reaction.

Controlling the Maillard reaction may affect the generation of 2-acetyl-1-pyrroline, the key aroma compound in rice. In this study, the kinetics of 2-acetyl-1-pyrroline accumulation in the glucose/proline model system was comprehensively investigated and extra methylglyoxal or glyoxal was added to enhance 2-acetyl-1-pyrroline concentrations during rice cooking. Using the multi-response kinetic modeling to derive kinetic parameters, the formation of glyoxal, as the reactive intermediate, was rate-determining for the overall generation rate of 2-acetyl-1-pyrroline. Besides, although 2-acetyl-1-pyrroline generation was easier to occur with lower activation energy, much higher depletion rates of 2-acetyl-1-pyrrroline at 120 °C and 140 °C led to maximal 2-acetyl-1-pyrroline accumulation at the lower temperature of 100 °C. Furthermore, the inclusion of 0.05 µmol/kg additional methylglyoxal in cooked rice significantly enhanced 2-acetyl-1-pyrroline generation. The work suggested that the development of rice products with superior flavor quality may be achieved by the slight accumulation of intermediates prior to thermal processing.

Study on Interaction of Aromatic Substances and Correlation between Electroencephalogram Correlates of Odor Perception in Light Flavor Baijiu.

Light-flavor Baijiu (LFB) is widely cherished for its flavor. This study identified the thresholds of 14 aroma compounds in a 52% ethanol-water matrix and conducted a comprehensive analysis of the interactions among key aroma compounds in LFB using the Feller additive model and odor activity values approach. Among them, the interactions of ß-damascenone with ester and alcohol compounds were primarily promotive, while the interaction with acid compounds was predominantly masking. Furthermore, for the first time, the electroencephalogram (EEG) technology was used to characterize the interactions between aroma compounds. The results showed that the brain activity in the alpha frequency band demonstrated heightened olfactory sensitivity. The EEG could not only display the additive effect of odor intensity but also reflect the differences in aroma similarity between different odors. This study demonstrated that the EEG can serve as an effective tool for olfactory assessment.

The effect of mango aroma in low-sugar beverage: A sensory study on odor induced sweetness enhancement.

Excessive intake of sugar has become a public concern. However, it is challenging for food industries to decrease sugar level without sacrificing safety and sensory profile. Odor-induced sweetness enhancement (OISE) is believed to be a novel and promising strategy for sugar reduction. In order to investigate the OISE effect of mango aroma and evaluate its degree of sugar reduction in low-sugar beverages, a mathematical model was constructed through sensory evaluation in this study. The results showed that the maximum liking of low-sugar model beverages was 4.28 % sucrose and 0.57 % mango flavor. The most synergistic of OISE was at the concentration level of 2.24 % sucrose + 0.25 % mango flavor, which was equivalent to 2.96 % pure sucrose solution. With 32.14 % sugar reduction, the mango aroma was suggested to generate the OISE effect. However, the same level of garlic aroma was not able to enhance sweetness perception, suggesting that the congruency of aroma and taste is a prerequisite for the OISE effect to occur. This study demonstrated that the cross-modal interaction of mango aroma on sweetness enhancement in low-sugar model beverages could provide practical guidance for developing sugar-reduced beverages without applying sweeteners.

Low gelatin concentration assisted cellulose nanocrystals stabilized high internal phase emulsion: The key role of interaction.

Low concentrations of gelatin (0.02-0.20 wt%) were applied to regulate the surface and interface properties of CNC (0.50 wt%) by forming CNC/G complexes. As gelatin concentration increased from 0 to 0.20 wt%, the potential value of CNC/G gradually changed from -44.50 to -17.93 mV. Additionally, various gelatin concentrations led to micromorphology changes of CNC/G complexes, with the formation of particle interconnection at gelatin concentration of 0.10 wt%, followed by network structure and enhanced aggregation at gelatin concentration of 0.15 and 0.20 wt% respectively. The water contact angle (25.91°-80.23°) and interface adsorption capacity of CNC/G were improved due to hydrophobic group exposure of gelatin. When gelatin concentration exceeded 0.10 % at a fixed oil phase volume fraction (75 %), a high internal phase emulsion (HIPE) stabilized by CNC/G can be formed with a good storage stability. The rheological and microstructure results of HIPE confirmed that low gelatin concentration can assist CNC to form stable emulsion structure. Especially, the auxiliary stabilization mechanism of various gelatin concentration was different. CNC/G-0.10 % and CNC/G-0.15 % stabilized HIPE mainly depended on the enhanced interface adsorption and network structure, while CNC/G-0.20 % stabilized HIPE mainly relied on enhanced interface adsorption/accumulation due to weak electrostatic repulsion and aggregate granular morphology of CNC/G-0.20 %.

Neuroprotective effects of apigenin on retinal ganglion cells in ischemia/reperfusion: modulating mitochondrial dynamics in in vivo and in vitro models.

BACKGROUND: Retinal ischemia/reperfusion (RIR) is implicated in various forms of optic neuropathies, yet effective treatments are lacking. RIR leads to the death of retinal ganglion cells (RGCs) and subsequent vision loss, posing detrimental effects on both physical and mental health. Apigenin (API), derived from a wide range of sources, has been reported to exert protective effects against ischemia/reperfusion injuries in various organs, such as the brain, kidney, myocardium, and liver. In this study, we investigated the protective effect of API and its underlying mechanisms on RGC degeneration induced by retinal ischemia/reperfusion (RIR). METHODS: An in vivo model was induced by anterior chamber perfusion following intravitreal injection of API one day prior to the procedure. Meanwhile, an in vitro model was established through 1% oxygen and glucose deprivation. The neuroprotective effects of API were evaluated using H&E staining, spectral-domain optical coherence tomography (SD-OCT), Fluoro-Gold retrograde labeling, and Photopic negative response (PhNR). Furthermore, transmission electron microscopy (TEM) was employed to observe mitochondrial crista morphology and integrity. To elucidate the underlying mechanisms of API, the terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay, flow cytometry assay, western blot, cell counting kit-8 (CCK-8) assay, lactate dehydrogenase (LDH) assay, JC-1 kit assay, dichlorofluorescein-diacetate (DCFH-DA) assay, as well as TMRE and Mito-tracker staining were conducted. RESULTS: API treatment protected retinal inner plexiform layer (IPL) and ganglion cell complex (GCC), and improved the function of retinal ganglion cells (RGCs). Additionally, API reduced RGC apoptosis and decreased lactate dehydrogenase (LDH) release by upregulating Bcl-2 and Bcl-xL expression, while downregulating Bax and cleaved caspase-3 expression. Furthermore, API increased mitochondrial membrane potential (MMP) and decreased extracellular reactive oxygen species (ROS) production. These effects were achieved by enhancing mitochondrial function, restoring mitochondrial cristae morphology and integrity, and regulating the expression of OPA1, MFN2, and DRP1, thereby regulating mitochondrial dynamics involving fusion and fission. CONCLUSION: API protects RGCs against RIR injury by modulating mitochondrial dynamics, promoting mitochondrial fusion and fission.

Decoding the Effects of High Hydrostatic Pressure and High-Temperature Short-Time Sterilization on the Volatile Aroma Profile of Red Raspberry Juice.

The loss of distinctive aromas due to sterilization significantly hinders efforts to enhance the sensory quality of fruit and vegetable juices. This study aimed to elucidate the impacts of high-hydrostatic pressure (HHP) and high-temperature short-time (HTST) sterilization methods on the loss of C6 aldehyde aroma-active compounds in red raspberry juice. External standard quantification and quantitative descriptive analysis (QDA) revealed a notable decline in the levels of hexanal and (Z)-3-hexenal following the HHP and HTST treatments (p < 0.05), resulting in a marked attenuation of the grassy aroma characteristic of red raspberry juice. Furthermore, a comprehensive examination of the precursors, pivotal enzymes, intermediates, and downstream aromas within the fatty acid metabolism pathway in different raspberry juice samples indicated that the C6 aldehydes loss induced by HHP and HTST sterilizations was primarily ascribed to the competitive inhibition of ß-oxidation and the hindered enzymatic oxidation of fatty acids. These insights suggest that modifying sterilization protocols and enhancing enzymatic stability may help preserve the aroma integrity of raspberry juice. Our findings offer practical guidance for optimizing juice processing techniques to maintain flavor.

Using GC-O-MS, GC-IMS, and chemometrics to investigate flavor component succession regularity in the Niulanshan Erguotou Baijiu brewing process.

The volatile compounds in Dacha liquor (DL) and Ercha liquor (EL) from Niulanshan Erguotou Baijiu (NEB) were analyzed. The results demonstrated that a total of 34 odorants were identified. For the first time, the products of different brewing stages were analyzed using temperature-programmed headspace gas chromatography-ion mobility spectrometry (TP-HS-GC-IMS). The 3D fingerprint obtained revealed that the compounds exhibited different change patterns during the brewing process. Furthermore, the results of principal component analysis (PCA) and partial least squares discriminant analysis (PLS-DA) revealed that hexanal, 3-hydroxy-2-butanone, trans-2-pentenal, and ethyl hexanoate could be used to distinguish different types of fermented grains; and hexanal, 1-pentanol, methyl isovalerate, isoamyl acetate, 3-hydroxy-2-butanone, ethyl hexanoate, ethyl acetate, ethyl 2-methylbutanoate, and ethyl pentanoate could be used to distinguish different types of distilled spirits. This study serves as a useful reference for enhancing quality control measures in the production of NEB.

Acute Effect of E-Cigarette Inhalation on Mucociliary Clearance in E-Cigarette Users.

Background: Recent studies show e-cigarette (EC) users have increased rates of chronic bronchitic symptoms that may be associated with depressed mucociliary clearance (MCC). Little is known about the acute or chronic effects of EC inhalation on in vivo MCC. Methods: In vivo MCC was measured in young adult vapers (n = 5 males, mean age = 21) after controlled inhalation of a radiolabeled (Tc99m sulfur colloid) aerosol. Whole-lung clearance of radiolabeled deposited particles was measured over a 90-minute period for baseline MCC and associated with controlled periodic vaping over the first 60 minutes of MCC measurements. The vaping challenge was administered from a fourth generation box mod EC containing unflavored e-liquid (65% propylene glycol/35% vegetable glycerin, 3 mg/mL freebase nicotine). The challenge was administered at the start of each 10-minute interval of MCC measurements and consisted of 1 puff every 30 seconds for 5 minutes (i.e., 10 puffs for each 10-minute period for a total of 60 puffs during the initial 60 minutes of MCC measurements). Results: Compared with baseline, peripheral lung average clearance (%) over the 90 minutes of MCC measures was enhanced, associated with EC challenge, 12 (±6) versus 24 (±6), respectively (p < 0.05 by Wilcoxon signed-rank test). Conclusions: Acute enhancement of in vivo MCC during EC challenge is contrary to recent studies showing nicotine-associated slowing of ciliary beat and mucus transport at higher nicotine levels than those used here. However, our findings are consistent with an acute increase in fluid volume and mucin secretion to the bronchial airway surface that is likely short lived. Research reported in this publication was supported by the National Institutes of Health R01HL139369 and registered with ClinicalTrials.gov (NCT03700892).

Profiling flavor characteristics of cold brew coffee with GC-MS, electronic nose and tongue: effect of roasting degrees and freeze-drying.

BACKGROUND: Roasting is an important process in the formation of coffee flavor characteristics, which determines the quality of coffee and consumer acceptance. However, the influence of roasting degree on the flavor characteristics of cold brew coffee has not been fully described. RESULTS: In the present study, the flavor characteristics of cold brew coffee with different roasting degrees were compared in detail by using chromatographic and electronic sensory approaches, and the flavor changes induced by freeze-drying were investigated. Pyrazine and heterocyclic compounds were the main aroma compounds in coffee, and gradually dominated with the increase of roasting. Pyridine was consistently present in cold brew coffees of different roasting degrees and showed significant gradient of quantity accumulation. Aroma compounds such as pyrazine, linalool and furfuryl acetate were the main contributors to coffee roasting, floral and fruity flavor. Freeze-drying preserved the fruity and floral aromas of medium-roasted cold brew coffee, whereas reducing the bitterness, astringency and acidity properties that are off-putting to consumers. CONCLUSION: The higher consumer acceptance and enjoyment in medium roast cold brew coffee may be related to its stronger floral and fruity aroma. The aroma profile qualities of freeze-drying processed medium roasted cold brewed coffee were more dominant and more suitable for freeze-drying processing than medium dark roasting. Application of freeze-drying for cold brew coffee will promote the convenience of drinking. The present study provides valuable technical guidance in improving the flavor and quality of cold brew coffee, and also promotes its commercialization process. © 2024 Society of Chemical Industry.

The Regulatory Effect of Huangshui Polysaccharides on Intestinal Microbiota and Metabolites during In Vitro Fermentation.

Huangshui polysaccharides (HSPs) have attracted extensive attention recently for their biological activity and physicochemical property. This research investigated the extraction, structural characterization, and prebiotic activity of three different HSPs (HSP40-0, HSP60-0, and HSP80-0) in vitro to reveal the scientific support for the high-value utilization of Huangshui. HSPs were heteropolysaccharide with diverse structures and surface morphologies. Comprehensive analysis was conducted through 16S rRNA gene sequencing and metabolite profiling techniques, and results showed that HSPs had different potentials to regulate the gut microbiota due to their different structures; for instance, both HSP40-0 and HSP80-0 could notably increase the relative abundance of Bacteroidota, whereas HSP60-0 could increase the relative abundance of Phascolarctobacterium. In addition, HSPs upregulated beneficial differential metabolites, especially short-chain fatty acids (SCFAs). Fermentation products containing these metabolites exhibited anti-inflammatory effects on LPS-treated Caco-2 cells. This study will provide reference for exploring the relationship between the natural polysaccharide structure and the prebiotic activity and widen the application of Huangshui.

Decoding Molecular Mechanism Underlying Human Olfactory Receptor OR8D1 Activation by Sotolone Enantiomers.

Sotolone, a chiral compound, plays an important role in the food industry. Herein, (R)-/(S)-sotolone were separated to determine their odor characteristics and thresholds in air (R-form: smoky, burned, herb, and green aroma, 0.0514 µg/m3; S-form: sweet, milk, acid, and nutty aroma, 0.0048 µg/m3). OR8D1 responses to (R)-/(S)-sotolone were detected in a HEK293 cell-based luminescence assay. (S)-Sotolone was a more potent agonist than (R)-sotolone (EC50 values of 84.98 ± 1.05 and 167.20 ± 0.25 µmol/L, respectively). Molecular dynamics simulations and molecular mechanics Poisson-Boltzmann surface area analyses confirmed that the combination of (S)-sotolone and OR8D1 was more stable than that of (R)-sotolone. Odorant docking, multiple sequence alignments, site-directed mutagenesis, and functional studies with recombinant odorant receptors (ORs) in a cell-based luminescence assay identified 11 amino-acid residues that influence the enantioselectivity of OR8D1 toward sotolone significantly and that N2065.46 was indispensable to the activation of OR8D1 by (S)-sotolone.

Preparation of nanocellulose light porous material adsorbed with tannic acid and its application in fresh-keeping pad.

This study fabricated nanocellulose lightweight porous material (TOCNF-G-LPM-TA) as absorbent fresh-keeping pad for meat products, using TEMPO-oxidized cellulose nanofibril (TOCNF) and gelatin as structural skeleton and tannic acid (TA) as antibacterial component of TOCNF lightweight porous material (TOCNF-G-LPM). The adsorption kinetics, capacity and mechanism of TOCNF-G-LPM in different initial concentrations of TA solutions were investigated, the antioxidant and antibacterial properties of TOCNF-G-LPM-TA and its fresh-keeping effect on refrigerated pork at 4 ℃ were studied. Due to strong hydrogen bonding and porous structure, TOCNF-G-LPM exhibited excellent TA adsorption ability (230 mg/g) conforming with pseudo-second-order kinetic and Langmuir isotherm models. TA endowed TOCNF-G-LPM with good antioxidant and antibacterial activities. According to changes in appearance, pH and TVB-N values of pork during storage at 4 ℃, TOCNF-G-LPM-TA effectively extended the shelf life of refrigerated pork. This work provides a facile method for preparing nanocellulose based absorbent fresh-keeping pads.

Semipinacol Rearrangement of Iododifluorohomoallyl Alcohols and Its Application in the Allylic C-H Esterification Reactions.

We herein present a study on the Ag(I)-mediated semipinacol rearrangement of iododifluorohomoallyl alcohols, the resulting allylic difluoromethyl ketones underwent oxidative allylic C-H esterification under palladium catalysis in the absence of external ligand. This process yielded a range of difluoromethyl ketones derived from allyl esters in a single operation. The reaction features broad scope of o-nitrobenzoic acids and homoallylic iododifluoroalcohols affording the targeted molecules in synthetically useful yields. Control experiments illustrated that the silver salt acted as not only a Lewis acid to promote the cleavage of a C-I bond and furnish the semipinacol rearrangement but also a co-oxidant in the catalytic cycle for the allylic C-H esterification.

The effect of discontinuing hypertonic saline or dornase alfa on mucociliary clearance in elexacaftor/tezacaftor/ivacaftor treated people with cystic fibrosis: The SIMPLIFY-MCC Study.

Many people with CF (pwCF) desire a reduction in inhaled treatment burden after initiation of elexacaftor/tezacaftor/ivacaftor. The randomized, open-label SIMPLIFY study showed that discontinuing hypertonic saline (HS) or dornase alfa (DA) was non-inferior to continuation of each treatment with respect to change in lung function over a 6-week period. In this SIMPLIFY substudy, we used gamma scintigraphy to determine whether discontinuation of either HS or DA was associated with deterioration in the rate of in vivo mucociliary clearance (MCC) in participants ≥12 years of age. While no significant differences in MCC endpoints were associated with HS discontinuation, significant improvement in whole and peripheral lung MCC was observed after discontinuing DA. These results suggest that pwCF on ETI with mild lung disease do not experience a subclinical deterioration in MCC that could later impact health outcomes after discontinuing HS, and in fact may benefit from improved MCC after stopping DA treatment.

Insights into the mechanisms driving microbial community succession during pepper fermentation: Roles of microbial interactions and endogenous environmental changes.

Elucidating the driving mechanism of microbial community succession during pepper fermentation contributes to establishing efficient fermentation regulation strategies. This study utilized three-generation high-throughput sequencing technology, microbial co-occurrence network analysis, and random forest analysis to reveal microbial community succession processes and driving mechanisms during pepper fermentation. The results showed that more positive correlations than negative correlations were observed among microorganisms, with positive correlation proportions of 60 %, 51.03 %, and 71.43 % between bacteria and bacteria, fungi and fungi, and bacteria and fungi in sipingtou peppers, and 69.23 %, 54.93 %, and 79.44 % in zhudachang peppers, respectively. Microbial interactions, mainly among Weissella hellenica, Lactobacillus plantarum, Hanseniaspora opuntiae, and Kazachstania humillis, could drive bacterial and fungal community succession. Notably, the bacterial community successions during the fermentation of two peppers were similar, showing the transition from Leuconostoc pseudomesenteroides, Lactococcus lactis, Weissella ghanensis to Weissella hellenica and Lactobacillus plantarum. However, the fungal community successions in the two fermented peppers differed significantly, and the differential biomarkers were Dipodascus geotrichum and Kazachstania humillis. Differences in autochthonous microbial composition and inherent constituents brought by pepper varieties resulted in different endogenous environmental changes, mainly in fructose, malic acid, and citric acid. Furthermore, endogenous environmental factors could also drive microbial community succession, with succinic acid, lactic acid, and malic acid being the main potential drivers of bacterial community succession, whereas fructose, glucose, and succinic acid were the main drivers of fungal community succession. These results will provide insights into controlling fermentation processes by raw material combinations, optimization of environmental parameters, and microbial interactions.

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants.

Inherited retinal diseases (IRDs) are a group of common primary retinal degenerative disorders. Conventional genetic testing strategies, such as panel-based sequencing and whole exome sequencing (WES), can only elucidate the genetic etiology in approximately 60% of IRD patients. Studies have suggested that unsolved IRD cases could be attributed to previously undetected structural variants (SVs) and intronic variants in IRD-related genes. The aim of our study was to obtain a definitive genetic diagnosis by employing whole genome sequencing (WGS) in IRD cases where the causative genes were inconclusive following an initial screening by panel sequencing. A total of 271 unresolved IRD patients and their available family members (n = 646) were screened using WGS to identify pathogenic SVs and intronic variants in 792 known ocular disease genes. Overall, 13% (34/271) of IRD patients received a confirmed genetic diagnosis, among which 7% were exclusively attributed to SVs, 4% to a combination of single nucleotide variants (SNVs) and SVs while another 2% were linked to intronic variants. 22 SVs, 3 deep-intronic variants, and 2 non-canonical splice-site variants across 14 IRD genes were identified in the entire cohort. Notably, all of these detected SVs and intronic variants were novel pathogenic variants. Among those, 74% (20/27) of variants were found in genes causally linked to Retinitis Pigmentosa (RP), with the gene EYS being the most frequently affected by SVs. The identification of SVs and intronic variants through WGS enhances the genetic diagnostic yield of IRDs and broadens the mutational spectrum of known IRD-associated genes.