Diabetic retinopathy (DR) is a chronic complication of diabetes and a leading cause of blindness in the industrialized world. Traditional risk factors, such as glycemic control and duration of diabetes, are unable to explain why some individuals remain protected while others progress to a more severe form of the disease. Differences are also observed in DR heritability as well as the response to anti-vascular endothelial growth factor (VEGF) treatment. This review discusses various aspects of genetics in DR to shed light on DR pathogenesis and treatment. First, we discuss the global burden of DR followed by a discussion on disease pathogenesis as well as the role genetics plays in the prevalence and progression of DR. Subsequently, we provide a review of studies related to DR's genetic contribution, such as candidate gene studies, linkage studies, and genome-wide association studies (GWAS) as well as other clinical and meta-analysis studies that have identified putative candidate genes. With the advent of newer cutting-edge technologies, identifying the genetic components in DR has played an important role in understanding DR incidence, progression, and response to treatment, thereby developing newer therapeutic targets and therapies.
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http://dx.doi.org/10.3390/genes12081200 | DOI Listing |
Endocrinol Diabetes Metab
January 2025
Department of Endocrinology and Metabolism, Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Objective: This study investigates the relationship between the albumin-to-creatinine ratio and diabetic retinopathy (DR) in US adults using NHANES data from 2009 to 2016. This study assesses the predictive efficacy of the urinary serum albumin-to-creatinine ratio (UACR/SACR Ratio) against traditional biomarkers such as the serum albumin-to-creatinine ratio (SACR) and urinary albumin-to-creatinine ratio (UACR) for evaluating DR risk. Additionally, the study explores the potential of these biomarkers, both individually and in combination with HbA1c, for early detection and risk stratification of DR.
View Article and Find Full Text PDFActa Ophthalmol
January 2025
Department of Ophthalmology, Stavanger University Hospital, Stavanger, Norway.
Purpose: To study choroidal thickness (CT) and luminal areas of choroidal vessels in the setting of fovea-off rhegmatogenous retinal detachment (RRD).
Methods: Twenty-seven eyes with RRD were prospectively studied before and after pars plana vitrectomy and SF6 tamponade, using swept-source optical coherence tomography (SS-OCT). CT was measured pre- and postoperatively both subfoveally and in attached macular areas.
Expert Opin Drug Saf
January 2025
Department of Pharmacy, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Background: Faricimab is predominantlyprescribed for conditions such as age-related macular degeneration (AMD),diabetic macular edema (DME), and macular edema related to retinal veinocclusion (RVO-ME). Currently, a notable absence of large-scale, real-worldstudies focusing on the adverse reactions of faricimab exists.
Methods: Thisstudy assesses the side effects of faricimab by analyzing reports of adverseevents (AEs) from the FDA's AEReporting System (FAERS) database.
BMC Ophthalmol
January 2025
College of Optometry, University of Houston College of Optometry, 4401 Martin Luther King Blvd, 77204-2020, Houston, TX, USA.
Background: This study evaluates retinal oxygen saturation and vessel density within the macula and correlates these measures in controls and subjects with type 2 diabetes (DM) with (DMR) and without (DMnR) retinopathy. Changes in retinal oxygen saturation have not been evaluated regionally in diabetic patients.
Methods: Data from seventy subjects (28 controls, 26 DMnR, and 16 DMR were analyzed.
BMJ Open Ophthalmol
January 2025
Ophthalmology & Vision Sciences, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Dual inhibition of the angiopoietin (Ang)/Tie and vascular endothelial growth factor (VEGF) signalling pathways in patients with retinal diseases, such as neovascular age-related macular degeneration (nAMD) and diabetic macular oedema (DME), may induce greater vascular stability and contribute to increased treatment efficacy and durability compared with treatments that only target the VEGF pathway. Faricimab, a bispecific intravitreal agent that inhibits both VEGF and Ang-2, is the first injectable ophthalmic drug to achieve treatment intervals of up to 16 weeks in Phase 3 studies for nAMD and DME while exhibiting improvements in visual acuity and retinal thickness. Data from real-world studies have supported the safety, visual and anatomic benefits and durability of faricimab, even in patients who were previously treated with other intravitreal agents.
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