Asian Biomedicine Feed

Antimicrobial functional ingredients used in hand hygiene products: a cross-sectional survey on regional e-commerce platforms in Wuhan area of China

Wed, 31 Dec 2025 00:00:00 GMT

Background Hand hygiene products containing antimicrobial functional ingredients have become daily products for many people during the post-pandemic period. However, their current market scenarios have not been well explored. Objective To provide an overview of antimicrobial functional ingredients in hand sanitizer products marketed to the public in Wuhan, China. Methods This cross-sectional product survey was conducted in September 2023. Information about existing hand hygiene products available online for household use was obtained from 2 major local e-commerce platforms in the Wuhan area of China: Tmall Supermarket and Jingdong Supermarket. Results A total of 674 hand sanitizer products were included in the survey, which were evenly divided into alcohol-based and alcohol-free sanitizers. More than 22 non-alcoholic compounds were used in alcohol-free hand sanitizer products, among which the top 5 major ingredients were benzalkonium chloride (BAC), iodine-based compounds, chloroxylenol (CX), hypochlorous acid, and polyhexamethylene biguanide. A majority (83.2%) of hand sanitizer products available on e-commerce platforms were single-ingredient formulations, with the remaining 16.8% containing sanitizers in combination. Triclosan (TCS)/triclocarban (TCC)-containing products accounted for 4.2% of all the included products and 8.3% of alcohol-free products; their recognized alternatives BAC/benzethonium chloride/CX had replaced the role of TCS/TCC in hand sanitization, especially in liquid hand rubs, antiseptic hand wipes, and liquid soaps. A total of 13 natural antimicrobial ingredients were identified in 2.1% of all the products. Conclusion There was a booming and diversified hand sanitizer market in Wuhan, China during the post-pandemic era. A market shift from alcohol-based to alcohol-free hand sanitizers has emerged.

A beginner’s guide to the clinical approach and key concepts of glomerular disease: a mini review

Wed, 31 Dec 2025 00:00:00 GMT

Glomerular disease is a common issue in nephrology, where prompt diagnosis and appropriate treatment are crucial to halting disease progression and preventing the development of chronic kidney disease or end-stage kidney disease. The initial approach and differential diagnosis remain essential clinical skills for ensuring timely investigation and management. In an era of advanced molecular diagnostics in histopathology and biologic therapies, there is a notable gap in the literature regarding a general introduction to the overarching concepts of glomerular disease. This article aims to serve as a guide for medical students and internists, offering an overview of the approach to glomerular disease, including differential diagnoses, the clinical features of nephritis and nephrotic syndrome, and common presentations that aid in diagnosis, such as foamy urine, hematuria, and proteinuria.

Anticancer potential of fused heterocycles: structural insights and mechanistic advances

Wed, 31 Dec 2025 00:00:00 GMT

β-lactam derivatives, carbazoles, isatin derivatives, pyrrolo-benzodiazepines (PBDs), and pyrido[2,3-d]pyrimidines have demonstrated potential as anticancer agents among organic compounds. They exhibit substantial anticancer efficacy across several cancer cell lines, such as HL-60, THP-1, U-937, HeLa, PANC1, MDA-MB-231, and A549 cell lines. These compounds display a significant anticancer profile via diverse biological pathways such as DNA interaction, kinase inhibition, microtubule disruption, and enzyme inhibition. Their low IC50 values across various cell lines suggest their viability as strong candidates for targeted and multi-mechanistic cancer therapy, warranting further in vivo and clinical exploration. This review thoroughly summarized the anticancer efficacy of β-lactam derivatives, carbazoles, isatins, PBDs, and pyrido[2,3-d]pyrimidine derivatives.

2024 Thai guidelines on the treatment of hypertension

Wed, 31 Dec 2025 00:00:00 GMT

The committee of the 2024 Thai Guidelines on the Treatment of Hypertension has reviewed new developments in the body of knowledge, combined with expertise in real-life clinical practice and evidence collected from clinical studies worldwide. The Guidelines consist of newly highlighted key topics to be up to date and suitable for the country’s context. We still maintained the current office blood pressure (BP) cut-point of 140/90 mmHg for hypertension diagnosis. The new BP category, “BP at risk,” i.e., BP of 130–139/80–89 mmHg, was introduced. The out-of-office BP measurements, including home BP monitoring (HBPM) or ambulatory blood pressure monitoring (ABPM), are also advocated to confirm the diagnosis of hypertension. Target BP levels depend on the age of the patients i.e., 120–130/70–79 mmHg for patients age 18–65 years, 130–139/70–79 mmHg for patients over 65 years of age. There are 5 main groups of antihypertensive medication, that is, angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, betablockers, calcium-channel blockers, and diuretics (thiazides and thiazide-like diuretics such as chlorthalidone and indapamide). Two types of medications should be started for most patients, except for frail elderly patients, patients with relatively low initial BP (140–149/90–99 mmHg), and low-risk patients; only 1 type of starting medication should be selected. Medication that is a combination of 2 types in 1 pill should be selected. Patient empowerment can be useful in sharing decisions in goal setting, provision of feedback channels, self-monitoring, education, and motivation, which the use of telemedicine and mobile health technologies can assist.

Basic research on antitoxin profiles: a key link to the management of snakebites

Wed, 31 Dec 2025 00:00:00 GMT

Recombinant phospholipase A2 inhibitor of Sinonatrix annularis (ringed water snake) attenuates hemorrhagic action of the venom from Daboia siamensis (Siamese Russell’s viper)

Wed, 31 Dec 2025 00:00:00 GMT

Background Phospholipase A2 (PLA2) is a common enzyme in snake venoms from many species that hydrolyzes phospholipids in cell membranes, causing local and systemic adverse effects. Interestingly, PLA2 inhibitors in the snake blood are a natural neutralization against PLA2 that is leaked into the circulation. Hence, synthesizing liver PLA2 inhibitors might be a novel and effective anti-venom strategy. Objective To test if PLA2 inhibitor gamma form (PLIϒ) reduces the hemorrhagic effect of crude Daboia siamensis (D. siamensis) (a venomous viper with high PLA2 abundance in the venom). Methods PLIϒ was synthesized and purified from the data of Sinonatrix annularis. Then, PLA2 activity in the snake venoms was screened and tested against PLA2 activity from crude D. siamensis venom. The hemorrhage effect of crude D. siamensis was measured with the minimum hemorrhagic activity dose in mice with and without PLIϒ. Results D. siamensis had the highest PLA2 activity among the 5 selected venomous snakes. The PLIϒ reduced the PLA2 activity of crude D. siamensis by up to 34.8% (in vitro) and decreased hemorrhagic spots in mice by up to 30.2% on the inner surface of mouse skins compared with controls. Conclusion PLIϒ reduced PLA2 activity and was effective in mitigating the hemorrhagic effect of crude D. siamensis.

The shifting burden of gastrointestinal and liver diseases in Southeast Asia and effective control strategies

Fri, 31 Oct 2025 00:00:00 GMT

Mobile health and hypertension in the digital era: patient perspectives on mHealth adoption and self-management in Saudi Arabia aligned with the digital health objectives of vision 2030

Fri, 31 Oct 2025 00:00:00 GMT

Background Hypertension remains a prominent public health concern in Saudi Arabia, contributing to cardiovascular morbidity and mortality. With widespread smartphone use and the national push toward digital transformation under Saudi Vision 2030, mobile health (mHealth) applications are a promising option for increasing self-management among hypertension patients. Objective This study aims to analyze the acceptance, preferences, and perceived barriers toward utilizing mHealth applications for hypertension self-management among patients in Saudi Arabia. Methods A cross-sectional survey was conducted from January to March 2025 utilizing an online, self-administered questionnaire disseminated across the 5 administrative regions of Saudi Arabia. The study investigated demographics, clinical factors, technology utilization, preferred app features, attitudes, and readiness to adopt mHealth solutions. Descriptive statistics and Pearson correlation analysis were employed. Results Among the 1098 respondents, 55.3% were female, and the mean age was 45.0 ± 11.8 years. A majority (95.2%) owned cellphones, although only 22.1% had used a health-related app, and 11.8% had used one for hypertension. Most participants reported great interest in app features like medication reminders (78.4%) and blood pressure tracking (71.9%). Willingness to utilize mHealth was high (85.6%), and substantially linked with education level (P = 0.008) and number of drugs (P = 0.03). Conclusion The study reveals considerable support for mHealth integration into hypertension care in Saudi Arabia. Tailoring app design to user demands and aligning deployment with Vision 2030’s digital health agenda can boost chronic illness management and patient empowerment nationally.

Evaluating plasma and tissue biopsy for DNA methylation markers in early colorectal cancer detection: a systematic review

Fri, 31 Oct 2025 00:00:00 GMT

Background DNA methylation markers are emerging as promising diagnostic tools for the early detection of colorectal cancer (CRC) that can significantly improve survival rates. Objective To compare the capabilities of blood plasma and tissue biopsy for detecting these markers in early CRC stages by diagnostic measures. Methods Nine studies published from 2020 to 2024 were analyzed, and the study quality was assessed using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool. Results This review reaffirms tissue-based samples as the gold standard based on the superior sensitivity and specificity with markers such as SFMBT2 being over 90% in the 2 parameters. However, due to its invasive nature, it challenges applicability for asymptomatic patients or routine screening. Plasma-based markers (SEPT9 and HAND1) offer a noninvasive alternative, with moderate sensitivity (40%–75.8%) and high specificity (69%–94.7%), while combining multiple markers improves overall diagnostic performance. However, most plasma-based assays evaluated in this review do not yet meet the 2021 Centers for Medicare and Medicaid Services approval benchmarks of ≥74% sensitivity and ≥90% specificity compared with colonoscopy, which shows the need for further optimization before its clinical implementation. QUADAS-2 illustrated a potential high risk of bias in patient selection and flow/timing domains, which underscores the need for more standardized diagnostic workflows and assay protocols. Conclusions Future research should focus on multi-marker panels, adherence to regulatory thresholds, cost-effectiveness analyses, and clear clinical management pathways to facilitate the widespread implementation of plasma-based CRC screening.

The shifting burden of gastrointestinal and liver diseases across 11 Southeast Asian nations: a 1990–2021 systematic analysis from the global burden of disease study

Fri, 31 Oct 2025 00:00:00 GMT

Background The burden of gastrointestinal (GI) and liver diseases in Southeast Asian (SEA) nations is substantial and evolving. Understanding contemporary trends is crucial for targeted public health interventions in this heterogeneous region. Objective To analyze disability-adjusted life years (DALYs) for major GI and liver diseases across 11 SEA nations from 1990 to 2021. Methods Age-standardized DALY rates per 100,000 were extracted from the Global Burden of Disease (GBD) 2021 study. We analyzed overall trends, causes with the highest relative DALY rate increases per country (1990–2021), and countries with the highest DALY rates per cause (2021). Results Although infectious GI DALYs such as diarrheal diseases declined, non-communicable disease, particularly GI cancers and chronic liver diseases, showed increasing prominence. Pancreatic cancer DALYs exhibited major relative increases in Indonesia (+61.7%) and Vietnam (+51.6%). Non-alcoholic fatty liver disease (NAFLD)-related DALYs (including cirrhosis) surged in Malaysia (+65.3%) and Thailand (+59.7%). In 2021, Cambodia, Myanmar, and Indonesia faced the highest DALY burdens from chronic hepatitis B and C. Brunei Darussalam, Malaysia, and Thailand led in colorectal cancer DALYs, while Brunei Darussalam also had high pancreatic cancer rates. Conclusion SEA nations confront a complex and evolving burden of transitioning GI and liver diseases. The persistent high impact of viral hepatitis, coupled with the alarming rise of NAFLD and GI cancers such as pancreatic cancer, underscores the urgent need for tailored national strategies focused on prevention, early detection, and enhanced treatment access.

Elevation of urinary alpha-1-antitrypsin and transferrin excretion in children of patients with nephrolithiasis

Fri, 31 Oct 2025 00:00:00 GMT

Background Children of patients with nephrolithiasis (NL) are highly susceptible to stone development. Abnormal urinary mineral excretion and elevated protein/albumin excretion rates have been reported in disease-free children of patients with NL. Increased protein excretion in these children could be associated with the risk of stone formation. Objective Explore the urinary proteomic profiles in children with NL who are highly susceptible to stone development. The suspected urinary proteins were further validated in the urine of children with and without a family history of stone formation. Methods Twenty-eight patients with NL (N), 40 volunteers (V), 46 children of patients with NL (NC) and 33 children of volunteer subjects (VC) were enrolled. The 24-hour urine of the participants was collected. Thirty urine samples were randomly selected from each children’s group (NC and VC) to investigate proteins with abnormal excretion. Quantitative proteomic analysis was conducted using tandem mass spectrometry. The levels of bikunin (AMBP), alpha-1-antitrypsin (AAT), transferrin (TF), alpha-2-HS-glycoprotein (fetuin-A), and adiponectin levels were measured in all samples using enzyme-linked immunosorbent assay. Results Total urinary protein excretion was increased in both N and NC. Urinary excretion rates for 26 proteins increased and 2 proteins decreased in the NC group compared to the VC group. The urinary excretion rates of AMBP, AAT, and TF in patients with NL and their children were higher than those of control and normal children while fetuin-A was increased only in the NC group. Elevation of urinary AAT and TF was dependent on urinary supersaturation. Conclusion Children of patients with calcium oxalate had increased urinary protein excretion, including AAT, TF, AMBP, and fetuin-A, considering the consequences of abnormal urine compositions. Increased excretion of these proteins may impact stone formation in these high-risk childhood members by regulation of renal inflammation, oxidation, crystallization, and crystal growth. We propose that AAT and TF excretion rates are potentially used as indicators for urinary supersaturation in high-risk populations.

2025 Thai guideline for the diagnosis and management of atrial fibrillation

Fri, 31 Oct 2025 00:00:00 GMT

Background The Thai Cardiac Electrophysiology Club, part of the Heart Association of Thailand under the Royal Patronage of His Majesty the King, published a Clinical Practice Guideline for the Management of Patients with Atrial Fibrillation (AF) in 2012. The availability of new evidence indicates a significant need for the updating of the existing clinical practice guideline. Objective To serve as guidelines on the diagnosis and management of Thai patients with AF. Methods Meetings were conducted from September 2024 to March 2025, including a public hearing that engaged various stakeholders. The final Thai version received approval in February 2025, while the English translation was completed in April 2025. Results AF is highly prevalent. The diagnosis is crucial to detect those who need treatment for the prevention of complication. Holistic management focused on stroke prevention, symptom management, and management of cardiovascular risk factors; and comorbidity is the key success factor to maintain a good quality of life. Emerging evidence regarding newer classes of anticoagulant indicates that these treatments are effective and safe for stroke prevention. Newer catheter ablation technology has been developed and provides a better success rate and lower rate of complication. The newer stroke risk prediction CHA2DS2-VA Score is recommended for the Thai population due to its simplicity. Conclusion The 2025 updated AF clinical practice guidelines establish a framework, provide recommendations, and serve as a comprehensive resource for the contemporary diagnosis and management of AF in the Thai population, with the goal of preventing complications.

Comparison of endoscopic resection, laparoscopic resection, and laparoscopic endoscopic cooperative surgery in esophageal or gastric subepithelial lesions in a Thai medical school

Mon, 08 Sep 2025 00:00:00 GMT

BackgroundEsophageal and gastric subepithelial lesions (SELs) are increasingly identified in routine endoscopic evaluations, necessitating optimal resection strategies. Minimally invasive techniques, including endoscopic resection (ER), laparoscopic resection (LR), and laparoscopic-endoscopic cooperative surgery (LECS), have distinct advantages. The present study compares the outcomes of these techniques. ObjectiveTo compare the clinical outcomes of ER, LR, and LECS in the management of esophageal or gastric SELs at King Chulalongkorn Memorial Hospital. MethodsA retrospective review was conducted on patients undergoing ER, LR, or LECS for esophageal and gastric SELs from January 2012 to August 2022. The primary outcome was the complete resection rate. Secondary outcomes included success rates, complications, and length of hospital stay. Statistical significance was set at P < 0.05. ResultsAmong 42 patients, 11 (26.2%) underwent ER, 12 (28.6%) underwent LR, and 19 (45.2%) underwent LECS. Complete resection was significantly higher in LR (100%) and LECS (84.2%) than ER (45.5%) (P = 0.033). Delayed bleeding occurred in 18.2% of ER cases (P = 0.052). Hospital stay was shortest in ER (3.9 d) and longest in LR (9.3 d) (P = 0.877). ConclusionWhile all techniques had high success rates, ER had the lowest complete resection rate and the highest bleeding risk. LR ensured complete resection but required longer hospitalization. LECS provided a balance between oncologic efficacy and safety. Surgical planning should be tailored based on tumor characteristics and surgical expertise.

Prevention of febrile neutropenia in diffuse large B-cell lymphoma treated with R-CHOP

Sun, 31 Aug 2025 00:00:00 GMT

Can transcutaneous bilirubin levels obtained from covered skin replace serum bilirubin measurement in neonates undergoing phototherapy?

Sun, 31 Aug 2025 00:00:00 GMT

BackgroundTranscutaneous bilirubinometers provide a non-invasive method to estimate total serum bilirubin (TSB) using multiwavelength reflectance. However, their accuracy during phototherapy (PT) remains controversial due to decreased dermal bilirubin. ObjectiveTo assess the correlation between TSB and transcutaneous bilirubin (TcB) measured from covered and exposed skin areas before, during, and after PT. MethodsIn this prospective study, 70 neonates undergoing PT were assessed. TcB measurements were obtained from the exposed sternum and the forehead, which were covered with an aluminum-coated radiopaque patch. TSB and TcB values were measured before PT, at 24 h during treatment, and 8 h post-treatment. The agreement between TSB and TcB values was evaluated using the intraclass correlation coefficient (ICC). ResultsTcB values of covered skin showed significant correlation with TSB at all-time points (ICC = 0.665 for pre-PT, ICC = 0.520 at 24 h, and ICC = 0.537 for post-treatment). TcB values of exposed skin showed poor correlation during and after PT. Mean differences between covered TcB and TSB remained within acceptable limits (<1 mg/dL). ConclusionTcB measurements from covered skin offer a reliable, non-invasive alternative to serum bilirubin levels in neonates receiving PT, reducing the need for repeated blood draws.

Effects of primary granulocyte colony-stimulating factor (G-CSF) prophylaxis for chemotherapy-induced febrile neutropenia in diffuse large B-cell lymphoma patients receiving the R-CHOP-21 regimen

Sun, 31 Aug 2025 00:00:00 GMT

BackgroundPrimary prophylaxis with granulocyte colony-stimulating factor (G-CSF) in diffuse large B-cell lymphoma (DLBCL) patients undergoing rituximab-cyclophosphamide-doxorubicin-vincristine-prednisolone every 21 d (R-CHOP-21) chemotherapy varies based on physician discretion. ObjectivesThe present study aims to investigate the impact of primary G-CSF prophylaxis on febrile neutropenia (FN) and other outcomes in DLBCL patients receiving R-CHOP-21 in real-world practice. MethodsMedical records of 103 newly diagnosed DLBCL patients, aged 18–80 years, were retrospectively analyzed. Seventy-four patients received primary G-CSF prophylaxis (prophylaxis group), while 29 patients did not receive prophylaxis (non-prophylaxis group). The occurrence of FN and other outcomes was compared between the two groups. ResultsThe prophylaxis group had older patients (median ± interquartile ranges [IQR], 63 ± 12 years vs. 50 ± 15 years, P < 0.001). The incidence of FN after the first R-CHOP was not statistically significant between groups (8.3% vs. 17.2%, P = 0.177). However, FN events were significantly higher in non-prophylaxis cycles (7.40%) compared with prophylaxis cycles (2.70%) (P = 0.027). Cumulative FN events were lower in the prophylaxis group (14.9%) than in the non-prophylaxis group (27.6%) (P = 0.134). FN-free survival was not significantly different between prophylaxis and non-prophylaxis groups (hazard ratio [HR], 0.48; 95% confidence interval [95%CI], 0.17–1.35), while primary G-CSF prophylaxis significantly improved event-free survival (HR, 0.36; 95%CI, 0.16–0.84). ConclusionsPrimary G-CSF prophylaxis may reduce the risk of FN in DLBCL patients undergoing R-CHOP-21 treatment. The present study highlights the importance of primary G-CSF prophylaxis, especially for those at high risk of FN.

Understanding the genetics and neurology: an overview of adult neurogenetics

Sun, 31 Aug 2025 00:00:00 GMT

Neurogenetics investigates the genetic basis of neurological disorders. It encompasses conditions ranging from neurodegenerative diseases with predominantly polygenic risk genes, such as Alzheimer's and Parkinson's, to monogenic diseases and repeated expansion disorders within movement and neuromuscular disorders, such as Friedreich ataxia and muscular dystrophies. Significant advances in recent years that have revolutionized our understanding of disease mechanisms and paved the way for personalized medicine approaches are due to the field of neurogenetics, with its intricate relationship both with clinical and genetic research. Therefore, all neurologists, even in resource-limited settings, are aware of the critical genetic basis; standard molecular diagnostic techniques such as next-generation sequencing, whole exome, and whole genome sequencing; and possible therapeutic modalities of their field. This review will also touch on elements of the neurogenetic clinic in tertiary care, ethical considerations, and insight into ongoing research that would help improve patient care and enhance clinical outcomes.

Development of a methodology for the volume estimation of the prefrontal cortical subfields in very pre-term infants using magnetic resonance imaging and stereology

Sun, 31 Aug 2025 00:00:00 GMT

BackgroundThe prefrontal cortex (PFC) is vital for cognitive and emotional functions and is vulnerable to disruptions in preterm infants. Reliable volume estimation methods are needed to study its development. ObjectiveTo develop and validate a novel method for estimating the volume of PFC subfields in very preterm infants using magnetic resonance imaging (MRI) combined with stereological techniques. The method was designed to achieve a coefficient of error (CE) below 5%. MethodsFive preterm infants born before 28 weeks of gestation were scanned using a 1.5-Tesla MRI scanner. The points of intersection between the grid and structure boundaries, in addition to the points in each slice, were counted using in-house software (Easy Measure). ResultsThe shape coefficient for each subfield of the prefrontal cortex was calculated, which yielded coefficients of 4.5, 6.1, 6.4, and 6.5 for dorsolateral, dorsomedial, orbitolateral, and orbitomedial PFC regions, respectively. For the dorsolateral prefrontal cortex, a grid size of 4 × 4 pixels and a 0.2 cm slice gap for the dorsomedial prefrontal cortex (DMPFC), a grid size of 5 × 5 pixels and a 0.1 cm slice gap for the orbitolateral PFC, a grid size of 5 × 5 pixels and a 0.3 cm slice gap, and a grid size of 5 × 5 pixels and 0.1 cm slice gap for the DMPFC resulted in <5% CE. ConclusionThis methodology offers new insights into the neurodevelopmental effects of preterm birth and has potential applications in the early detection of neurodevelopmental disorders. Its precision, reliability, and non-invasive nature make it suitable for longitudinal studies and contribute to neonatal neuroimaging and neurodevelopmental research.

Entanglement between pharmacy/pharmaceutical education and cancer? A bibliometric answer

Sun, 31 Aug 2025 00:00:00 GMT

BackgroundThe growing role of pharmacists in cancer care highlights the need to understand research trends linking pharmaceutical education and oncology. ObjectiveTo quantitatively investigate the bibliometric status of the entanglement between pharmacy/pharmaceutical education and cancer-related issues, providing feasible information and suggestions for the developmental basis and research hotspots. MethodsBibliometric analysis was performed using the Web of Science Core Collection. Boolean operations (BO) were used to set up the literature query set. The literature published between 1985 and 2022 was screened for the types of “article” and “review.” The citation analysis and research hotspot extraction were performed using the “analyze results” and “citation report” functions of Clarivate Analytics. ResultsThe bibliometric analysis of 722 relevant papers showed that the global interest in the topic is increasing and the collaboration between countries is quite active. The extraction results showed that guidelines for cancer therapy, palliative care and pain management, pharmacy staff's attitudes and knowledge, and adherence to chemotherapy were the main research hotspots and that these have been long-term discussed. ConclusionConducting a bibliometric study to analyze the overall publication status, developmental basis, and research hotspots will reveal the logical entanglement of the existing academic research between pharmacy/pharmaceutical education and cancer, and will provide a reference for academic development in the educational and oncological community.

Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights

Mon, 30 Jun 2025 00:00:00 GMT

Background Albinism is a rare genetic condition characterized by hypopigmentation of the skin, hair, and eyes, as well as visual impairments. Oculocutaneous albinism type 2 (OCA2) is commonly associated with variants in the OCA2 gene, which encodes a protein critical for melanosomal pH regulation and melanin biosynthesis. Exome sequencing, validated by Sanger sequencing, was employed to investigate the genetic basis of albinism in a consanguineous Iranian family. Bioinformatics analyses and structural modeling were conducted to assess the pathogenicity and impact of the detected variant. Case presentation A 27-year-old male from a consanguineous Iranian family presented with features of oculocutaneous albinism, including white hair, blue eyes, strabismus, sun-sensitive skin, reduced visual acuity, and significant photophobia, resulting in functional limitations in bright environments. Genetic analysis identified a novel homozygous missense variant in the OCA2 gene, NM_000275.3:c.1274T>G (p.Met425Arg), located in exon 13. The genomic coordinates of the variant are chr15:g.27985154A>C (GRCh38/hg38). In silico tools classified the variant as likely pathogenic based on its evolutionary conservation, absence in population databases, and structural modeling predictions. Segregation analysis confirmed autosomal recessive inheritance, with both parents being heterozygous carriers. Conclusion The identified OCA2 variant, c.1274T>G; p.Met425Arg, disrupts protein function, impairing melanosomal activity and melanin biosynthesis. This study underscores the importance of genetic analysis in characterizing OCA2 variants and highlights the need for further exploration of molecular mechanisms and phenotypic variability in OCA2-related albinism to improve diagnosis and counseling.